ClinVar Miner

List of variants in gene GCK reported as pathogenic by Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008

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