ClinVar Miner

List of variants in gene ABCC8 studied for Monogenic diabetes

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Total variants: 17
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HGVS dbSNP
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838
NM_000352.6(ABCC8):c.1127C>T (p.Ser376Phe)
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val) rs148709148
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558
NM_000352.6(ABCC8):c.3817A>T (p.Arg1273Trp) rs1554906389
NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser) rs763104338
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930
NM_000352.6(ABCC8):c.4043A>G (p.Asn1348Ser) rs1554905775
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His) rs193922401
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) rs148529020

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