ClinVar Miner

List of variants in gene GCK reported by Translational Genomics Laboratory, University of Maryland School of Medicine

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000162.5(GCK):c.1016A>G (p.Glu339Gly) rs1057524903
NM_000162.5(GCK):c.1113C>A (p.Cys371Ter) rs556581174
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.5(GCK):c.122T>C (p.Met41Thr) rs1057524906
NM_000162.5(GCK):c.1253+2T>A rs1057524902
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.1344del (p.Ala449fs) rs1057524901
NM_000162.5(GCK):c.1361C>A (p.Ala454Glu) rs1057524900
NM_000162.5(GCK):c.184G>A (p.Val62Met) rs1064793998
NM_000162.5(GCK):c.680-1G>A rs1057524905
NM_000162.5(GCK):c.718A>G (p.Asn240Asp) rs1562715574
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904

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