ClinVar Miner

List of variants in gene combination ABCC8, LOC110121471 reported as pathogenic for diazoxide-resistant focal hyperinsulinism

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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NM_001287174.2(ABCC8):c.2295-1G>A rs1564905676
NM_001287174.2(ABCC8):c.2298_2310delinsAA (p.Arg767fs) rs1554917411

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