ClinVar Miner

List of variants in gene ABCC8 reported as pathogenic by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

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Total variants: 10
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NM_000352.5(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373
NM_000352.5(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_000352.5(ABCC8):c.2695-2A>T rs863225278
NM_000352.5(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861
NM_000352.5(ABCC8):c.3989-9G>A rs151344623
NM_000352.5(ABCC8):c.4454_4455AG[1] (p.Arg1486fs) rs863225279
NM_000352.5(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.5(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.5(ABCC8):c.72C>A (p.Asn24Lys) rs771075821
NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) rs151344624

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