ClinVar Miner

List of variants reported for Hemoglobinopathy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.-138C>T rs33944208 0.00021
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000518.4(HBB):c.374C>G (p.Pro125Arg) rs33983276 0.00001
NM_000518.5(HBB):c.*111A>G rs63751128 0.00001
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936 0.00001
NC_000011.9:g.(5248030_5248159)_(5254322_5255220)del
NC_000011.9:g.(?_5246695)_(5255713_?)del
NM_000518.4(HBB):c.422C>T (p.Ala141Val) rs33927093
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.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.176del (p.Pro59fs) rs35395625
NM_000518.5(HBB):c.1A>G (p.Met1Val) rs34563000
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.316-1G>A rs33952266
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.345_348dup (p.His117fs)
NM_000518.5(HBB):c.36del (p.Thr13fs) rs34856846
NM_000518.5(HBB):c.396_397del (p.Lys133fs) rs63750320
NM_000518.5(HBB):c.436T>A (p.Tyr146Asn) rs33949869
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427
NM_000518.5(HBB):c.45dup (p.Trp16fs) rs35383398
NM_000518.5(HBB):c.76_92+27del rs63751076
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) rs33950507
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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