Unique variants in the HBB gene

Information The variants shown are described using the transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     
Reported     
Exon     
AscendingDNA change (cDNA)     
Published as     
RNA change     
Protein     
GVS function     
Clinical classification     
DNA change (genomic) (hg38)     
Published as     
Reference     
DB-ID     
dbSNP ID     
Frequency     
Variant remarks     
Owner     
./. 1 - c.-138C>T -88 (C>T) r.(=) p.(=) - ClinVar g.5227159G>A -88 (C>T) E George et al. (1992), dbSNP, (OMIM 0372) HBB_000031 rs33944208 1/7 - Nuur Athirah Binti Mohd Daud
+?/. 1 - c.-126C>T -76 C>T r.(=) p.(=) - - g.5227147G>A -76 C>T HBB_000052 - 2 - Nuur Athirah Binti Mohd Daud
+?/. 1 - c.-123A>C -73 A>C r.(=) p.(=) - - g.5227144T>G -73 A>C HBB_000049 - 3 - Nuur Athirah Binti Mohd Daud
+?/. 1 - c.-123A>G -73 A>G r.(=) p.(=) - - g.5227144T>C -73 A>G HBB_000048 - 1 - Nuur Athirah Binti Mohd Daud
+?/. 1 - c.-113A>G -63 A>G r.(=) p.(=) - - g.5227134T>C -63 A>G HBB_000061 - 1 - Nuur Athirah Binti Mohd Daud
./. 1 - c.-80T>A -30 (T>A) r.(=) p.(=) - ClinVar g.5227101A>T -30 (T>A) M Sivalingam et al. (2012), dbSNP, (OMIM 0377), ClinVar HBB_000035 rs33980857 1/396 - Nuur Athirah Binti Mohd Daud
+/., -/. 13 - c.-79A>G -29, -29 (A>G) r.(=) p.(=) - Pathogenic​, ClinVar, ClinVar, ClinVar g.5227100T>C -29, -29 (A>G) dbSNP, dbSNP, (OMIM 0379), ClinVar, E George et al. (1992), dbSNP, (OMIM 0379), ClinVar, 8 more items HBB_000009 rs34598529, rs35906110 1/279, 1/396, 1/76, 1/91, 2/169, 2/274, 2/34, 3/322 MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah, Nurul Atika Binti Musa, NUR ALIA TASNIM BINTI MAT DAUD
+/., ./., ?/. 19 -, = c.-78A>G -28 (A>G), 28 (A>G) r.(=) p.(=) - ClinVar g.5227099T>C -28 (A>G), 28 (A>G) E George et al. (1992), dbSNP, (OMIM 0381), ClinVar, George et al. (1993){dbSNPrs33931746}, 14 more items HBB_000005 rs33931746 1/12, 1/40, 1/46, 11/279, 13/396, 14/151, 14/154, 14/91, 2/12, 2/169, 2/24, 21/322, 3/141, 3/504, 4/34, 3 more items - MyHVP, Nuur Athirah Binti Mohd Daud, Nurul Atika Binti Musa
+/., ./. 9 - c.-50A>C CAP +1 (A>C) r.(=) p.(=) - ClinVar, ClinVar g.5227071T>G CAP +1 (A>C) E George et al. (1992), dbSNP, (OMIM 0387), Hassan et al. (2013)dbSNP, Hassan S et al. 2013dbSNP, 5 more items HBB_000008 rs34305195 1/2, 1/322, 1/46, 1/76, 2/140, 2/141, 2/169, 4/297, 4/396 - MyHVP, Nuur Athirah Binti Mohd Daud
+/. 1 - c.-24C>G CAP +27 (C>G) r.(=) p.(=) - - g.5227045G>C CAP +27 (C>G) HBB_000050 rs374054030 1 - Nuur Athirah Binti Mohd Daud
+/. 5 1 c.2T>G ATG>AGG, Init CD ATG>AGG r.? p.? - ClinVar g.5227020A>C ATG>AGG, Init CD ATG>AGG dbSNP, M Sivalingam et al. (2012), dbSNP, (OMIM 0344), ClinVar, 3 more items HBB_000036 rs33941849 1/279, 1/396, 1/91, 2/322 Nuur Athirah Binti Mohd Daud, Nurul Atika Binti Musa
+/. 1 1 c.20A>T HbS r.(?) p.(Glu7Val) - ClinVar g.5227002T>A - Lie-Injo et al HBB_000069 - - - MyHVP Team
+/. 8 1 c.27dupG CD 8/9 (+G), CD 8/9 +AGAA r.(?) p.(Ser10Valfs*14) - ClinVar g.5226995dupC CD 8/9 (+G), CD 8/9 +AGAA dbSNP, (OMIM 0325), Hassan et al. (2013)dbSNP, Lai Kuan Teh et al. (2014), dbSNP, (OMIM 0325), ClinVar, 4 more items HBB_000022 rs35699606 0, 1/274, 1/40, 1/46, 2/504, 2/7, 4/140, 4/279 - MyHVP, Nuur Athirah Binti Mohd Daud
+/. 4 1 c.27_28insAGAA CD 8/9, CD 8/9 +AGAA r.(?) p.(Ser10Argfs*15) - ClinVar g.5226994_5226995insTTCT CD 8/9, CD 8/9 +AGAA M Sivalingam et al. (2012), ClinVar, Mohd Rashdan Abd Rahim et al. (2015), ClinVar HBB_000033 - 1/1, 1/25, 2/128, 4/396 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.27_28insG - r.(?) p.(Ser10Valfs*14) - ClinVar g.5226994_5226995insC - Hassan S at al. 2013dbSNP HBB_000010 rs35699606 4/169 - MyHVP
+/. 2 1 c.46delT CD 15 (-T) r.(?) p.(Trp16Glyfs*4) - ClinVar g.5226976delA CD 15 (-T) S Fucharoen et al. (1990), dbSNP, ClinVar HBB_000043 rs63749960 0, 1/7 - Nuur Athirah Binti Mohd Daud
+/. 7 1 c.47G>A CD 15 TGG>TAG r.(?) p.(Trp16*) - ClinVar g.5226975C>T CD 15 TGG>TAG E George et al. (1992), dbSNP, (OMIM 0313), ClinVar, Hassan et al. (2013)dbSNP, Tan JadbSNP, 4 more items HBB_000020 rs63750783 1/279, 1/3, 1/322, 1/91, 2/40, 2/7 - MyHVP, Nuur Athirah Binti Mohd Daud
+/. 1 1 c.48G>A - r.(?) p.(Trp16*) - ClinVar g.5226974C>T - Hassan S et al. 2013dbSNP HBB_000017 rs34716011 1/169 - MyHVP
+/. 2 1 c.51delC CD 16, CD 16 (GGC>GG-) r.(?) p.(Lys18Argfs*2) - ClinVar g.5226971delG CD 16, CD 16 (GGC>GG-) dbSNP, Mohd Rashdan Abd Rahim et al. (2015), dbSNP, ClinVar HBB_000044 rs35662066 1, 1/1 - Nuur Athirah Binti Mohd Daud
+/. 21 1 c.52A>T CD 17 (AAG>TAG), CD 17 A>T, CD17 r.(?) p.(Lys18*) - Pathogenic​, ClinVar, ClinVar, ClinVar g.5226970T>A CD 17 (AAG>TAG), CD 17 A>T dbSNP, (OMIM 0311), ClinVar, E George et al. (1992), dbSNP, (OMIM 0311), ClinVar, Tan JadbSNP, 13 more items HBB_000011 rs33986703 1/12, 1/28, 1/3, 1/41, 1/46, 1/504, 13/154, 2/274, 2/34, 2/40, 2/76, 2/91, 27/322, 3/169, 3/396, 4/24, 3 more items - MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 23 1 c.59A>G CD 19 (AAC>AGC) / Hb Malay, CD 19 A>G / Hb Malay, CD19 r.(?) p.(Asn20Ser) - Pathogenic, ClinVar, ClinVar, ClinVar g.5226963T>C CD 19 (AAC>AGC) / Hb Malay, CD 19 A>G / Hb Malay dbSNP, (OMIM 0168), DXR Koh et al. (2017), dbSNP, (OMIM 0168)ClinVar, Hassan et al. (2013)dbSNP, 16 more items HBB_000012 rs33972047 1/16, 1/25, 1/46, 10/141, 18/274, 2/21, 2/26, 2/322, 2/40, 20/396, 3/279, 3/28, 3/396, 3/76, 5/741, 4 more items - MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/+, +/. 38 1 c.79G>A Cd 26 (GAG>AAG) HbE (βE), CD 26 G>A / HbE, CD 26 GAG>AAG / HbE, CD26 (HbE), CD26, HbE, 1 more item r.(?) p.(Glu27Lys) - Pathogenic / Likely Pathogenic, Pathogenic​, ClinVar, ClinVar g.5226943C>T CD 26 G>A / HbE, CD 26 GAG>AAG / HbE dbSNP, (OMIM 0071), ClinVar, DXR Koh et al. (2017), dbSNP, (OMIM 0071), ClinVar, HassandbSNP, 21 more items HBB_000006 rs33950507 1/1, 1/2, 1/3, 1/7, 1/91, 10/16, 11/28, 129/396, 15/322, 15/46, 2/151, 2/154, 2/169, 2/24, 2/3, 2/741, 16 more items 1 more item MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/., ./. 3 1 c.85dupC CD 27/28 (+C) r.(?) p.(Leu29Profs*16) - ClinVar g.5226937dupG CD 27/28 (+C) Meow-Keong Thong et al. (2005), dbSNP, (OMIM 0342), ClinVar, 2 more items HBB_000038 rs35532010 1/12, 2/91, 3/322 - Nuur Athirah Binti Mohd Daud
+/. 1 1i c.92G>C CD 30 (G>C) / Hb Monroe r.(?) p.(Arg31Thr) - ClinVar g.5226930C>G CD 30 (G>C) / Hb Monroe Lai Kuan Teh et al. (2014), dbSNP, (OMIM 0144), ClinVar HBB_000039 rs33960103 1/504 - Nuur Athirah Binti Mohd Daud
+/. 5 1i c.92+1G>A IVS I-1 G>A, IVS1-1(G>A) r.spl? p.? - ClinVar, ClinVar g.5226929C>T IVS I-1 G>A Hassan et al. (2013)dbSNP, Hassan S et al. 2013dbSNP, Jin-Ai M A Tan et al.(2014)dbSNP, 2 more items HBB_000013 rs33971440 1/140, 1/169, 1/21, 2/396 - MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/+, +/., ./. 25 1i c.92+1G>T IVS I-1 (G>T), IVS1-1 (G→T), VS I-1 (G>T) r.spl? p.? splice Pathogenic / Likely Pathogenic, Pathogenic​, ClinVar g.5226929C>A IVS I-1 (G>T), VS I-1 (G>T) dbSNP, (OMIM 0347), ClinVar, E George et al. (1992), dbSNP, (OMIM 0347), ClinVar, Hassan SdbSNP, 16 more items HBB_000004, HBB_000018 rs33915217, rs33971440 1/151, 1/154, 1/16, 1/21, 1/25, 1/3, 1/76, 19/274, 2/46, 23/279, 24, 27/169, 3/396, 3/41, 3/87, 36/396, 6 more items - MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah, MyHVP Team
+/. 3 1i c.92+2T>C IVS I-2 (T>C) r.spl? p.? - ClinVar g.5226928A>G IVS I-2 (T>C) E George et al. (1992), dbSNP, (OMIM 0350), ClinVar, 2 more items HBB_000032 rs33956879 6/396, 7/279, 9/141 - Nuur Athirah Binti Mohd Daud
+/. 1 1i c.92+2T>G IVS I-2 (T>G) r.spl? p.? - ClinVar g.5226928A>C IVS I-2 (T>G) Lai Kuan Teh et al. (2014), dbSNP, (OMIM 0349), ClinVar HBB_000040 rs33956879 1/504 - Nuur Athirah Binti Mohd Daud
+/+, +/. 32 1i c.92+5G>C IVS 1-5 (G→C), IVS I-5 (G>C) r.spl? p.? - Pathogenic​ClinVar, ClinVar, ClinVar, ClinVar g.5226925C>G IVS I-5 (G>C) Faidatul Syazlin Abdul Hamid et al.(2015): 10.4172/2155-9864.1000260, dbSNP, (OMIM 0357), ClinVar, 21 more items HBB_000003 rs33915217 0, 1/169, 1/2, 1/24, 1/25, 1/76, 11/40, 14/25, 14/46, 2/128, 2/16, 2/2, 2/46, 2/504, 2/741, 20/41, 3/4, 12 more items - MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+?/. 1 1i c.92+65G>A IVS I-65 (G>A) r.(=) p.(=) - - g.5226865C>T IVS I-65 (G>A) HBB_000063 - 1 - Nuur Athirah Binti Mohd Daud
+/. 1 1i c.93-22_95del IVS-1 25bp Deletion r.? p.? - ClinVar g.5226797_5226821del - Faidatul Syazlin Abdul Hamid et al.(2015): 10.4172/2155-9864.1000260 HBB_000065 rs193922563 - - Nur Aisyah Athirah
+/. 1 2 c.101_106delTGGTCT CD 33-35 (-TGGTCT) r.(?) p.(Val34_Tyr36delinsAsp) - - g.5226786_5226791delAGACCA CD 33-35 (-TGGTCT) K G Yang et al. (1989), dbSNP HBB_000042 rs35389895 2/41 - Nuur Athirah Binti Mohd Daud
+?/. 1 2 c.108delC CD 35 (TAC>TA-) r.(?) p.(Pro37Leufs*25) - - g.5226784delG CD 35 (TAC>TA-) HBB_000060 - 2 - Nuur Athirah Binti Mohd Daud
./. 1 2 c.114G>A CD 37 (TGG>TGA) r.(?) p.(Trp38*) - ClinVar g.5226778C>T CD 37 (TGG>TGA) M Sivalingam et al. (2012), dbSNP, (OMIM 0315), ClinVar HBB_000037 rs33974936 1/396 - Nuur Athirah Binti Mohd Daud
./. 1 - c.124_127delTTCT - r.(?) p.(Phe42Leufs*19) - ClinVar g.5226765_5226768delAGAA - Hassan S et al. 2013dbSNP HBB_000007 rs80356821 13/169 - MyHVP
+/. 1 2 c.126_129del Cd 41/42 (-TTCT) (β0) r.(?) p.(Phe42Leufs*19) - ClinVar g.5226763_5226766del - Saad HKM et al. (2023) HBB_000070 - 21/65 (32.3%) 1 more item MyHVP
+/., ./., ?/. 39 -, 2 c.126_129delCTTT c.127_130delCTTT, CD 41/42, c.127_130delCTTT, CD41/42, cd 41-42, CD 41/42 (-CTTT) r.(?) p.(Phe42Leufs*19) - Pathogenic/Likely pathogenic​, ClinVar, ClinVar g.5226763_5226766delAAAG cd 41-42, CD 41/42 (-CTTT) dbSNP, (OMIM 0326), ClinVar, E George et al. (1992), dbSNP, (OMIM 0326), ClinVar, Hassan SdbSNP, 20 more items HBB_000014 rs281864900, rs80356821 1/1, 1/12, 1/16, 1/3, 1/46, 121/322, 13/24, 13/34, 14/140, 14/169, 14/220, 14/24, 2/15, 3/12, 3/21, 16 more items MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah, Nurul Atika Binti Musa
+/. 4 2 c.130G>T CD 43 (GAG>TAG) r.(?) p.(Glu44*) - ClinVar g.5226762C>A CD 43 (GAG>TAG) Hassan et al. (2013)dbSNP, J A M A Tan et al. (2004), dbSNP, (OMIM 0316), ClinVar, 2 more items HBB_000023 rs33922842 1/34, 2/151, 2/3, 5/322 - MyHVP, Nuur Athirah Binti Mohd Daud
+/. 1 - c.216_217insA CD71/72 r.(?) p.(Ser73Lysfs*2) - Pathogenic g.5226675_5226676insT - Jin-Ai M A Tan et al.(2014) HBB_000066 rs606231217 - - Nur Aisyah Athirah
?/. 1 - c.217dup cd 71-72 r.(?) p.(Ser73Lysfs*2) - ClinVar g.5226675dup cd 71-72 K L Tan et al. (2001)dbSNP HBB_000068 rs33969853 - - Nurul Atika Binti Musa
+/., ./. 16 2 c.217dupA c.217dupA, CD 71/72 (+A) r.(?) p.(Ser73Lysfs*2) - ClinVar, ClinVar g.5226675dupT c.217dupA, CD 71/72 (+A) dbSNPClinVar, dbSNPM Sivalingam et al. (2012), ClinVardbSNP, E George et al. (1992), ClinVardbSNP, 11 more items HBB_000019 rs33969853 1/16, 1/2, 1/25, 1/279, 1/396, 1/46, 1/7, 10/87, 2/274, 2/34, 2/76, 2/91, 3/504, 5/151, 5/154, 9/322 - MyHVP, Nuur Athirah Binti Mohd Daud
?/. 1 - c.286A>G - r.(?) p.(Lys96Glu) - ClinVar g.5226606T>C - Rahimah Ahmad et al.(2012),dbSNP HBB_000067 rs33914359 14/150 - Noorzalifah Binti Mazuki
+/. 1 2i c.315+1G>T - r.spl? p.? - ClinVar g.5226576C>A - Tan Ja et al. 2006dbSNP HBB_000021 rs33945777 2/26 - MyHVP
-?/. 1 2i c.315+15C>T IVS II-15 (C>T r.(=) p.(=) - ClinVar g.5226562G>A IVS II-15 (C>T dbSNP HBB_000047 rs756567448 2 - Nuur Athirah Binti Mohd Daud
+?/. 1 2i c.315+45A>G IVS II-45 (A>G) r.(=) p.(=) - - g.5226532T>C IVS II-45 (A>G) HBB_000046 - 2 - Nuur Athirah Binti Mohd Daud
+?/. 1 2i c.315+63T>C IVS II-63 (T>C) r.(=) p.(=) - - g.5226514A>G IVS II-63 (T>C) HBB_000055 - 1 - Nuur Athirah Binti Mohd Daud
+?/. 1 2i c.315+70G>A IVS II-70 (G>A) r.(=) p.(=) - - g.5226507C>T IVS II-70 (G>A) HBB_000054 - 3 - Nuur Athirah Binti Mohd Daud
+?/. 1 2i c.315+129G>A IVS II-129 (G>A) r.(=) p.(=) - - g.5226448C>T IVS II-129 (G>A) HBB_000053 - 1 - Nuur Athirah Binti Mohd Daud
-/. 4 2i c.315+180T>C IVS II-180 (T>C) r.(=) p.(=) - ClinVar g.5226397A>G IVS II-180 (T>C) dbSNP, dbSNP HBB_000056 rs529931134 1, 6 - Nuur Athirah Binti Mohd Daud
+?/. 1 2i c.315+308delA IVS II-308 (-A) r.(=) p.(=) - - g.5226269delT IVS II-308 (-A) HBB_000064 - 4 - Nuur Athirah Binti Mohd Daud
-/. 1 2i c.316-373C>A IVS II-478 (C>A) r.(=) p.(=) - ClinVar g.5226099G>T IVS II-478 (C>A) dbSNP HBB_000057 rs78815705 1 - Nuur Athirah Binti Mohd Daud
-?/. 1 2i c.316-238C>T IVS II-613 (C>T) r.(=) p.(=) - ClinVar g.5225964G>A IVS II-613 (C>T) dbSNP HBB_000058 rs558554234 1 - Nuur Athirah Binti Mohd Daud
+/. 29 2, 2i c.316-197C>T IVS II-654 C>T, IVS2-654, IVSII #654 r.(=) p.(=) - Pathogenic / Likely Pathogenic, ClinVar, ClinVar g.5225923G>A IVS II-654 C>T, IVSII #654 E George et al. (1992), dbSNP, (OMIM 0368), ClinVar, George et al. (1993)dbSNP, Tan JadbSNP, 17 more items HBB_000015 rs34451549 1/140, 1/15, 1/169, 1/2, 1/4, 1/46, 10/34, 12/396, 14/76, 18/279, 2/12, 25/91, 3/25, 3/41, 3/504, 3/7, 8 more items MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah, Nurul Atika Binti Musa
./. 2 2i c.316-179A>C IVS II-672 (A>C) r.(=) p.(=) - ClinVar g.5225905T>G IVS II-672 (A>C) dbSNP, dbSNP HBB_000051 rs185607297 1 - Nuur Athirah Binti Mohd Daud
./. 1 2i c.316-45G>C IVS II-806 (G>C) r.(=) p.(=) - ClinVar g.5225771C>G IVS II-806 (G>C) dbSNP HBB_000062 rs140033163 1 - Nuur Athirah Binti Mohd Daud
+/. 1 3 c.370_378delACCCCACCA CD 123-125 (-ACCCCACC) >135aa r.(?) p.(Thr124_Pro126del) - - g.5225664_5225672delTGGTGGGGT CD 123-125 (-ACCCCACC) >135aa Lai Kuan Teh et al. (2014), dbSNP HBB_000041 rs281864902 1/504 - Nuur Athirah Binti Mohd Daud
+?/. 1 - c.*21A>G 3'UTR +21 A>G r.(=) p.(=) - - g.5225577T>C 3'UTR +21 A>G HBB_000059 - 1 - Nuur Athirah Binti Mohd Daud
+/., -/. 3 3'UTR c.*108A>G - r.(=) p.(=) - - g.5225490T>C - Hassan et al. (2013), Hassan S et al. 2013, Tan Ja et al. 2006 HBB_000016 - 2/26, 5/140, 5/169 - MyHVP
+/. 4 - c.*110T>C Poly A (A>G), Poly A (T>C) r.(=) p.(=) - ClinVar, ClinVar g.5225488A>G Poly A (T>C) dbSNP, ClinVar, M Sivalingam et al. (2012), dbSNP, (OMIM 0382), 2 more items HBB_000034 rs33978907 0, 1/7, 2/396 - Nuur Athirah Binti Mohd Daud, Noorzalifah Binti Mazuki
+/. 3 - c.*111A>G Poly A (A>G) r.(=) p.(=) - ClinVar g.5225487T>C Poly A (A>G) J A M A Tan et al. (2004), dbSNP, (OMIM 0399), Meow-Keong Thong et al. (2005), dbSNP, (OMIM 0399), 1 more item HBB_000028 rs63751128 1/46, 2/21, 2/322 - Nuur Athirah Binti Mohd Daud
+/. 7 - c.*112A>G c.+*112A>G, Poly A(A>G) AATAAA>AATAGA, Poly A (A>G), Poly A (A>G) AATAAA>AATAGA r.(=) p.(=) - Pathogenic / Likely Pathogenic, ClinVar g.5225486T>C Poly A (A>G), Poly A (A>G) AATAAA>AATAGA E George et al. (1992), dbSNP, (OMIM 0386), Jin-Ai M A Tan et al.(2014), 3 more items HBB_000030 rs63750954 1/141, 1/2, 3/279, 4/504 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+?/. 2 - c.*261T>C 3'UTR +261 T>C r.(=) p.(=) - - g.5225337A>G 3'UTR +261 T>C HBB_000045 - 1 - Nuur Athirah Binti Mohd Daud
+/. 28 - c.*5040864_*5159340del118477 Filipino (~45 kb deletion) r.(=) p.(=) - - g.66258_184734del118477 Filipino (~45 kb deletion) J A M A Tan et al. (2004), Jin-Ai M A Tan et al.(2014), Jin-Ai M A Tan et al.(2014), , 3 more items HBB_000025 - 11/15, 16/125, 25/322, 460/504 Filipino β-deletion Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 - c.*5097900_*5176803del78904 Chinese (Aγδβ)0 r.(=) p.(=) - - g.48795_127698del78904 Chinese (Aγδβ)0 J A M A Tan et ai. (2004) HBB_000027 - 2/151 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.*5153371_*5153989del619 619 bp deletion r.(=) p.(=) - - g.71609_72227del619 619 bp deletion Y C Wee et al. (2008), ClinVar HBB_000026 - 1/322 - Nuur Athirah Binti Mohd Daud
+/. 2 - c.*5154552_*5161966del Hb Lepore r.(=) p.(=) - - g.63632_71046del Hb Lepore E George et al. (1992), (OMIM 0020) HBB_000029 - 1/141, 1/76 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.*5187631_*5191434del3804 - r.(=) p.(=) - - g.34164_37967del3804 - Jin-Ai Mary Anne Tan et al. (2010) HBB_000024 - 42/125 - Nuur Athirah Binti Mohd Daud
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