ClinVar Miner

List of variants in gene GCK reported as pathogenic for Hyperinsulinemic hypoglycemia familial 3

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Total variants: 6
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HGVS dbSNP
GCK, VAL91LEU
NM_000162.3(GCK):c.1165G>C (p.Val389Leu) rs1350717554
NM_000162.3(GCK):c.1361_1363dup (p.Ala454_Val455insAla) rs1554334433
NM_000162.3(GCK):c.1363G>A (p.Val455Met) rs104894012
NM_000162.3(GCK):c.1367C>T (p.Ala456Val) rs104894014
NM_000162.3(GCK):c.641A>G (p.Tyr214Cys) rs104894015

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