ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 studied for Hemoglobinopathy

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.-138C>T rs33944208 0.00021
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936 0.00001
NM_000518.4(HBB):c.191A>G (p.His64Arg) rs33985544
NM_000518.4(HBB):c.277C>A (p.His93Asn) rs33924775
NM_000518.4(HBB):c.86T>C (p.Leu29Pro) rs33916412
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-29G>A rs34704828
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.118_121dup (p.Arg41fs)
NM_000518.5(HBB):c.126dup (p.Phe43fs) rs2133588679
NM_000518.5(HBB):c.127_129del (p.Phe43del) rs41417446
NM_000518.5(HBB):c.129dup (p.Glu44Ter) rs33979901
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.138del (p.Phe46fs) rs35133315
NM_000518.5(HBB):c.155del (p.Pro52fs) rs63750128
NM_000518.5(HBB):c.15_19delinsATCTT (p.Pro6_Glu7delinsSerTer)
NM_000518.5(HBB):c.176C>G (p.Pro59Arg) rs33991472
NM_000518.5(HBB):c.176del (p.Pro59fs) rs35395625
NM_000518.5(HBB):c.199A>G (p.Lys67Glu) rs34165323
NM_000518.5(HBB):c.1A>G (p.Met1Val) rs34563000
NM_000518.5(HBB):c.257T>C (p.Phe86Ser) rs35693898
NM_000518.5(HBB):c.273G>C (p.Glu91Asp) rs35002698
NM_000518.5(HBB):c.292_295dup (p.Val99fs) rs1564874901
NM_000518.5(HBB):c.295G>A (p.Val99Met) rs33933298
NM_000518.5(HBB):c.36del (p.Thr13fs) rs34856846
NM_000518.5(HBB):c.45dup (p.Trp16fs) rs35383398
NM_000518.5(HBB):c.70G>A (p.Val24Ile) rs33929459
NM_000518.5(HBB):c.71_73del (p.Val24del) rs34160180
NM_000518.5(HBB):c.76_92+27del rs63751076
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) rs33950507
NM_000518.5(HBB):c.81G>C (p.Glu27Asp) rs281864581
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.8del (p.His3fs) rs1847589398
NM_000518.5(HBB):c.93-2A>C rs63750513

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