ClinVar Miner

List of variants in gene GCK reported as pathogenic for Maturity-onset diabetes of the young, type 2

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Total variants: 30
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HGVS dbSNP
GCK, IVS4DS, 15-BP DEL
NM_000162.5(GCK):c.1015G>A (p.Glu339Lys) rs397514580
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694
NM_000162.5(GCK):c.1113C>A (p.Cys371Ter) rs556581174
NM_000162.5(GCK):c.112C>T (p.Gln38Ter) rs878853246
NM_000162.5(GCK):c.1132G>A (p.Ala378Thr) rs104894016
NM_000162.5(GCK):c.1253+2T>A rs1057524902
NM_000162.5(GCK):c.148C>T (p.His50Tyr) rs1562719705
NM_000162.5(GCK):c.184G>A (p.Val62Met) rs1064793998
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.295del (p.Trp99fs) rs1554335752
NM_000162.5(GCK):c.317_333del (p.Gln106fs) rs797045595
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.5(GCK):c.45+1G>T rs781260712
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455
NM_000162.5(GCK):c.629T>A (p.Met210Lys) rs80356654
NM_000162.5(GCK):c.645C>G (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934
NM_000162.5(GCK):c.678_679+2del rs1554335391
NM_000162.5(GCK):c.680-1G>A rs1057524905
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.775G>A (p.Ala259Thr) rs1375656631
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.793G>T (p.Glu265Ter) rs104894011
NM_000162.5(GCK):c.835G>T (p.Glu279Ter) rs104894005
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) rs193922335
NM_000162.5(GCK):c.895G>C (p.Gly299Arg) rs104894009
NM_000162.5(GCK):c.941T>C (p.Leu314Pro) rs1554334886
NM_000162.5(GCK):c.944T>A (p.Leu315His) rs193922338

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