ClinVar Miner

List of variants in gene GCK reported as pathogenic for Permanent neonatal diabetes mellitus

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Total variants: 6
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NM_000162.5(GCK):c.1019+2T>G rs193929376
NM_000162.5(GCK):c.1133C>T (p.Ala378Val) rs193929374
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) rs193929375
NM_000162.5(GCK):c.629T>A (p.Met210Lys) rs80356654
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.790G>A (p.Gly264Ser) rs193929373

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