ClinVar Miner

List of variants in gene ABCC8 studied for Retrognathia; Polyhydramnios; Hypoglycemia; Bilateral cryptorchidism; Pointed chin; Broad forehead; Triangular face; Long philtrum; Generalized hypotonia; Neonatal hypotonia; Large for gestational age; Large fleshy ears

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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NM_000352.5(ABCC8):c.1024G>T (p.Gly342Trp) rs763028380

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