ClinVar Miner

List of variants in gene ABCC8 reported as pathogenic by Counsyl

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Total variants: 9
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NM_000352.5(ABCC8):c.1630+1G>T rs773306994
NM_000352.5(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.5(ABCC8):c.3509del (p.Leu1170fs) rs587783169
NM_000352.5(ABCC8):c.3748C>T (p.Arg1250Ter) rs1057516281
NM_000352.5(ABCC8):c.3868-1G>A rs766431403
NM_000352.5(ABCC8):c.3989-9G>A rs151344623
NM_000352.5(ABCC8):c.560T>A (p.Val187Asp) rs137852672
NM_000352.5(ABCC8):c.584dup (p.Tyr195Ter) rs1057517199
NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) rs151344624

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