ClinVar Miner

List of variants reported as pathogenic for diazoxide-resistant focal hyperinsulinism by Counsyl

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_001287174.2(ABCC8):c.1630+1G>T rs773306994
NM_001287174.2(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_001287174.2(ABCC8):c.2995C>T (p.Arg999Ter) rs769518471
NM_001287174.2(ABCC8):c.3512del (p.Leu1171fs) rs587783169
NM_001287174.2(ABCC8):c.3751C>T (p.Arg1251Ter) rs1057516281
NM_001287174.2(ABCC8):c.3871-1G>A rs766431403
NM_001287174.2(ABCC8):c.3992-9G>A rs151344623
NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) rs151344624
NM_001287174.2(ABCC8):c.560T>A (p.Val187Asp) rs137852672
NM_001287174.2(ABCC8):c.584dup (p.Tyr195Ter) rs1057517199

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