ClinVar Miner

List of variants in gene GCK reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (305):
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Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.580-1G>A rs1554335421 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.70C>T (p.Gln24Ter) rs1281712444 0.00001
NM_000162.5(GCK):c.823C>T (p.Arg275Cys) rs556436603 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NM_000162.5(GCK):c.1003del (p.Val335fs) rs193922254
NM_000162.5(GCK):c.1007C>A (p.Ser336Ter)
NM_000162.5(GCK):c.1015G>A (p.Glu339Lys) rs397514580
NM_000162.5(GCK):c.1019+2T>C
NM_000162.5(GCK):c.1019+2T>G rs193929376
NM_000162.5(GCK):c.1019G>T (p.Ser340Ile) rs1376631949
NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs) rs1583592247
NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer) rs1562713041
NM_000162.5(GCK):c.1077del (p.Ser360fs)
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.1133C>A (p.Ala378Asp)
NM_000162.5(GCK):c.1139A>C (p.His380Pro) rs2128819280
NM_000162.5(GCK):c.1141_1142del (p.Met381fs)
NM_000162.5(GCK):c.1146C>A (p.Cys382Ter) rs1583591809
NM_000162.5(GCK):c.1156del (p.Leu386fs)
NM_000162.5(GCK):c.1165G>C (p.Val389Leu) rs1350717554
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.1247A>G (p.His416Arg)
NM_000162.5(GCK):c.1253+1G>C
NM_000162.5(GCK):c.1253+2T>A rs1057524902
NM_000162.5(GCK):c.1254-20_1312del rs2096270578
NM_000162.5(GCK):c.1256del (p.Phe419fs)
NM_000162.5(GCK):c.1261G>T (p.Glu421Ter)
NM_000162.5(GCK):c.1278_1279del (p.Val427fs) rs2128818859
NM_000162.5(GCK):c.127C>T (p.Arg43Cys) rs1486280029
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs)
NM_000162.5(GCK):c.1309_1310del (p.Thr437fs)
NM_000162.5(GCK):c.130G>A (p.Gly44Ser) rs267601516
NM_000162.5(GCK):c.1327G>T (p.Glu443Ter) rs1562711915
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) rs193922281
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup) rs1554334433
NM_000162.5(GCK):c.1363G>A (p.Val455Met) rs104894012
NM_000162.5(GCK):c.1367C>T (p.Ala456Val) rs104894014
NM_000162.5(GCK):c.1378del (p.Ala460fs)
NM_000162.5(GCK):c.137G>T (p.Arg46Met) rs1064796993
NM_000162.5(GCK):c.148C>T (p.His50Tyr) rs1562719705
NM_000162.5(GCK):c.151G>T (p.Glu51Ter)
NM_000162.5(GCK):c.158C>T (p.Ala53Val) rs2128823130
NM_000162.5(GCK):c.183C>A (p.Tyr61Ter) rs780612692
NM_000162.5(GCK):c.184G>A (p.Val62Met) rs1064793998
NM_000162.5(GCK):c.208+2T>C rs2128823089
NM_000162.5(GCK):c.208G>A (p.Glu70Lys) rs2128823091
NM_000162.5(GCK):c.209-1G>A
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.214G>C (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.25G>T (p.Glu9Ter) rs1131691483
NM_000162.5(GCK):c.271G>Y (p.Val91Leu)
NM_000162.5(GCK):c.286G>T (p.Glu96Ter) rs2096281776
NM_000162.5(GCK):c.295del (p.Trp99fs) rs1554335752
NM_000162.5(GCK):c.296G>A (p.Trp99Ter)
NM_000162.5(GCK):c.304A>T (p.Lys102Ter) rs193922291
NM_000162.5(GCK):c.316C>T (p.Gln106Ter) rs2096281702
NM_000162.5(GCK):c.317_333del (p.Gln106fs) rs797045595
NM_000162.5(GCK):c.351_358del (p.Thr118fs)
NM_000162.5(GCK):c.364-1G>A rs1057521094
NM_000162.5(GCK):c.387C>A (p.Cys129Ter) rs1583601365
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.5(GCK):c.393del (p.Asp132fs) rs193922295
NM_000162.5(GCK):c.445dup (p.Thr149fs)
NM_000162.5(GCK):c.45+1G>T rs781260712
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.469G>T (p.Glu157Ter)
NM_000162.5(GCK):c.478G>A (p.Asp160Asn) rs1554335566
NM_000162.5(GCK):c.483+1G>A
NM_000162.5(GCK):c.483+2T>C rs1554335564
NM_000162.5(GCK):c.483+2_483+16del rs1583601110
NM_000162.5(GCK):c.484-2A>G
NM_000162.5(GCK):c.491T>C (p.Leu164Pro) rs2096278847
NM_000162.5(GCK):c.501G>C (p.Trp167Cys) rs1470521850
NM_000162.5(GCK):c.533G>A (p.Gly178Glu) rs886039380
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.551T>C (p.Leu184Pro) rs2128821610
NM_000162.5(GCK):c.556C>T (p.Arg186Ter) rs104894006
NM_000162.5(GCK):c.562G>A (p.Ala188Thr) rs751279776
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.568A>T (p.Lys190Ter)
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.579+1G>A
NM_000162.5(GCK):c.579G>T (p.Gly193=) rs2128821570
NM_000162.5(GCK):c.580-13_580-1del
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000162.5(GCK):c.629T>A (p.Met210Lys) rs80356654
NM_000162.5(GCK):c.641A>G (p.Tyr214Cys) rs104894015
NM_000162.5(GCK):c.641dup (p.Tyr214Ter) rs2128821490
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.645C>G (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.656del (p.Gln219fs)
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.661G>A (p.Glu221Lys) rs193922317
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.671T>C (p.Met224Thr) rs2128821476
NM_000162.5(GCK):c.678_679+2del rs1554335391
NM_000162.5(GCK):c.679+1G>A rs2128821468
NM_000162.5(GCK):c.679+1G>C
NM_000162.5(GCK):c.679G>A (p.Gly227Ser)
NM_000162.5(GCK):c.680-1G>A rs1057524905
NM_000162.5(GCK):c.680-6C>G
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.686del (p.Gly229fs) rs1554335164
NM_000162.5(GCK):c.695C>A (p.Ala232Asp)
NM_000162.5(GCK):c.706G>A (p.Glu236Lys) rs587780347
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.751A>G (p.Met251Val) rs2128820620
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000162.5(GCK):c.766G>T (p.Glu256Ter)
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.5(GCK):c.770G>A (p.Trp257Ter) rs1562715426
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>A (p.Glu265Lys) rs104894011
NM_000162.5(GCK):c.793G>T (p.Glu265Ter) rs104894011
NM_000162.5(GCK):c.819T>A (p.Tyr273Ter) rs1562715296
NM_000162.5(GCK):c.835G>T (p.Glu279Ter) rs104894005
NM_000162.5(GCK):c.863+1G>A rs1376796469
NM_000162.5(GCK):c.864-1G>C
NM_000162.5(GCK):c.867T>A (p.Tyr289Ter) rs1192394824
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.940del (p.Leu314fs)
NM_000162.5(GCK):c.941T>C (p.Leu314Pro) rs1554334886
NM_000162.5(GCK):c.944T>A (p.Leu315His) rs193922338
NM_000162.5(GCK):c.962_963dup (p.Glu322fs)
NM_000162.5(GCK):c.971T>C (p.Leu324Pro) rs193922341
NM_000162.5(GCK):c.982G>T (p.Gly328Ter)

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