ClinVar Miner

List of variants in gene GCK studied for Monogenic diabetes

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Total variants: 13
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HGVS dbSNP
NM_000162.5(GCK):c.1016A>G (p.Glu339Gly) rs1057524903
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.146C>A (p.Thr49Asn) rs193922286
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166
NM_000162.5(GCK):c.680-1G>A rs1057524905
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.74T>A (p.Leu25Gln) rs193922325
NM_000162.5(GCK):c.918_919delinsAT (p.Leu307Phe) rs1057524892

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