ClinVar Miner

List of variants in gene ABCC8 reported as pathogenic for Familial hyperinsulinism

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Total variants: 14
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HGVS dbSNP
NM_000352.5(ABCC8):c.1176+2T>C rs750586210
NM_000352.5(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_000352.5(ABCC8):c.2695-1G>C rs1057517420
NM_000352.5(ABCC8):c.3574del (p.Asp1192fs) rs1057516317
NM_000352.5(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066
NM_000352.5(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779
NM_000352.5(ABCC8):c.3748C>T (p.Arg1250Ter) rs1057516281
NM_000352.5(ABCC8):c.3989-9G>A rs151344623
NM_000352.5(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.5(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716
NM_000352.5(ABCC8):c.62T>A (p.Val21Asp) rs200670692
NM_000352.5(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.5(ABCC8):c.695G>A (p.Trp232Ter) rs1564977373
NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) rs151344624

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