ClinVar Miner

List of variants in gene ABCC8 reported as uncertain significance by Ambry Genetics

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_000352.6(ABCC8):c.1923+3G>A rs374869130 0.00028
NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val) rs369049969 0.00016
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys) rs144705160 0.00011
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn) rs781480098 0.00008
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936 0.00006
NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile) rs771882862 0.00005
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met) rs149331388 0.00003
NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys) rs1254230359 0.00002
NM_000352.6(ABCC8):c.1142T>C (p.Ile381Thr)
NM_000352.6(ABCC8):c.1366C>T (p.Leu456Phe)
NM_000352.6(ABCC8):c.1432G>T (p.Ala478Ser)
NM_000352.6(ABCC8):c.157A>G (p.Ser53Gly)
NM_000352.6(ABCC8):c.2030G>A (p.Cys677Tyr)
NM_000352.6(ABCC8):c.2120A>C (p.Gln707Pro)
NM_000352.6(ABCC8):c.2264G>A (p.Arg755Gln)
NM_000352.6(ABCC8):c.2603T>C (p.Met868Thr)
NM_000352.6(ABCC8):c.2888A>T (p.Asp963Val)
NM_000352.6(ABCC8):c.289G>A (p.Gly97Arg)
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro) rs201499958
NM_000352.6(ABCC8):c.3098T>C (p.Leu1033Pro)
NM_000352.6(ABCC8):c.3289C>T (p.His1097Tyr)
NM_000352.6(ABCC8):c.3326T>G (p.Met1109Arg)
NM_000352.6(ABCC8):c.3461C>T (p.Ala1154Val)
NM_000352.6(ABCC8):c.3490C>T (p.Leu1164Phe)
NM_000352.6(ABCC8):c.3511G>A (p.Ala1171Thr)
NM_000352.6(ABCC8):c.3535A>G (p.Lys1179Glu)
NM_000352.6(ABCC8):c.371A>G (p.Tyr124Cys)
NM_000352.6(ABCC8):c.3788C>A (p.Ala1263Glu) rs772094360
NM_000352.6(ABCC8):c.3995C>T (p.Ser1332Leu)
NM_000352.6(ABCC8):c.4078G>A (p.Val1360Met) rs1953962707
NM_000352.6(ABCC8):c.4099C>T (p.Leu1367Phe)
NM_000352.6(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.4400C>T (p.Pro1467Leu)
NM_000352.6(ABCC8):c.4406G>A (p.Gly1469Asp)
NM_000352.6(ABCC8):c.4C>T (p.Pro2Ser) rs756552692
NM_000352.6(ABCC8):c.602C>A (p.Pro201Gln)
NM_000352.6(ABCC8):c.689A>G (p.Tyr230Cys)
NM_000352.6(ABCC8):c.854G>A (p.Arg285Gln)
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
NM_000352.6(ABCC8):c.949C>A (p.Pro317Thr)

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