ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_000352.5(ABCC8):c.2454_2456del (p.Asp818_Gln819delinsGlu) rs1554916621

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