ClinVar Miner

List of variants in gene ABCC8 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 17
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HGVS dbSNP
NM_000352.5(ABCC8):c.1874C>T (p.Ala625Val)
NM_000352.5(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.5(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.5(ABCC8):c.2117-3C>T rs1799854
NM_000352.5(ABCC8):c.2539G>A (p.Ala847Thr)
NM_000352.5(ABCC8):c.2610C>T (p.Ala870=) rs111967655
NM_000352.5(ABCC8):c.279C>A (p.Ile93=) rs550990673
NM_000352.5(ABCC8):c.3329+6C>T rs113873225
NM_000352.5(ABCC8):c.3612C>T (p.Ala1204=) rs149861153
NM_000352.5(ABCC8):c.3613G>A (p.Glu1205Lys) rs768448830
NM_000352.5(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000352.5(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930
NM_000352.5(ABCC8):c.3989-9G>A rs151344623
NM_000352.5(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110
NM_000352.5(ABCC8):c.560T>A (p.Val187Asp) rs137852672
NM_000352.5(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) rs151344624

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