ClinVar Miner

List of variants in gene GCK reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.483+26C>A rs142668032 0.00048
NM_000162.5(GCK):c.-457C>T rs548039601 0.00011
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.16G>A (p.Ala6Thr) rs754792276 0.00001
NM_000162.5(GCK):c.434C>T (p.Pro145Leu) rs1413302700 0.00001
NM_000162.5(GCK):c.499T>C (p.Trp167Arg) rs1481197092 0.00001
NM_000162.5(GCK):c.824G>A (p.Arg275His) rs767565869 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NC_000007.14:g.44189504G>A rs2096325080
NC_000007.14:g.44189508G>A
NM_000162.5(GCK):c.1019G>T (p.Ser340Ile) rs1376631949
NM_000162.5(GCK):c.1085C>T (p.Thr362Ile) rs2096271812
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1166TCA[1] (p.Ile390del) rs2128819209
NM_000162.5(GCK):c.1216G>A (p.Val406Met) rs2128819150
NM_000162.5(GCK):c.1222G>A (p.Val408Met) rs1293307672
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp) rs1554334546
NM_000162.5(GCK):c.1265G>T (p.Arg422Leu)
NM_000162.5(GCK):c.137G>T (p.Arg46Met) rs1064796993
NM_000162.5(GCK):c.158C>T (p.Ala53Val) rs2128823130
NM_000162.5(GCK):c.318G>C (p.Gln106His)
NM_000162.5(GCK):c.350G>T (p.Gly117Val)
NM_000162.5(GCK):c.352A>G (p.Thr118Ala) rs2128822620
NM_000162.5(GCK):c.355G>A (p.Ala119Thr) rs1064796698
NM_000162.5(GCK):c.384G>C (p.Glu128Asp)
NM_000162.5(GCK):c.427_428delinsCT (p.Lys143Leu) rs1554335598
NM_000162.5(GCK):c.431T>C (p.Leu144Pro) rs1554335596
NM_000162.5(GCK):c.45+3A>G rs1554340088
NM_000162.5(GCK):c.45+3A>T rs1554340088
NM_000162.5(GCK):c.463A>G (p.Arg155Gly) rs193922301
NM_000162.5(GCK):c.499T>G (p.Trp167Gly) rs1481197092
NM_000162.5(GCK):c.501G>T (p.Trp167Cys) rs1470521850
NM_000162.5(GCK):c.527C>A (p.Ala176Glu) rs193922304
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.576A>C (p.Arg192Ser)
NM_000162.5(GCK):c.580-13T>A rs1386067636
NM_000162.5(GCK):c.595G>A (p.Val199Met) rs1554335417
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.878T>C (p.Ile293Thr) rs2128820046
NM_000162.5(GCK):c.995C>G (p.Thr332Arg) rs770231054
NM_033507.3(GCK):c.520G>C (p.Ala174Pro) rs2128821634

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