ClinVar Miner

List of variants in gene GCK reported by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.203G>A (p.Gly68Asp) rs373418736 0.00004
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) rs143484733 0.00004
NM_000162.5(GCK):c.301G>A (p.Val101Met) rs762922697 0.00003
NM_000162.5(GCK):c.394G>A (p.Asp132Asn) rs762419802 0.00002
NM_000162.5(GCK):c.107G>A (p.Arg36Gln) rs193922261 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000162.5(GCK):c.716A>G (p.Gln239Arg) rs764146649 0.00001
NM_000162.5(GCK):c.1019G>T (p.Ser340Ile) rs1376631949
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) rs1000236360
NM_000162.5(GCK):c.1133C>G (p.Ala378Gly) rs193929374
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly) rs193922271
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.207A>G (p.Ser69=) rs779548342
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.316C>T (p.Gln106Ter) rs2096281702
NM_000162.5(GCK):c.440G>A (p.Gly147Asp) rs193922296
NM_000162.5(GCK):c.45+1G>T rs781260712
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.562G>A (p.Ala188Thr) rs751279776
NM_000162.5(GCK):c.577G>C (p.Gly193Arg) rs376050856
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000162.5(GCK):c.709G>A (p.Glu237Lys) rs1176858193
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.773G>A (p.Gly258Asp) rs747662793

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