ClinVar Miner

List of variants reported as pathogenic for Permanent neonatal diabetes mellitus; Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young, type 2

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Total variants: 4
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NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803

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