ClinVar Miner

List of variants in gene GCK reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 210
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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.787T>C (p.Ser263Pro) rs193922331 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
GRCh37/hg19 7p13(chr7:44192900-44193062)x1
NC_000007.13:g.(?_44228488)_(44229109_?)del
NC_000007.14:g.44189510C>G
NM_000162.5(GCK):c.1000_1009del (p.Phe334fs)
NM_000162.5(GCK):c.1003del (p.Val335fs) rs193922254
NM_000162.5(GCK):c.1007C>A (p.Ser336Ter)
NM_000162.5(GCK):c.1010dup (p.Val338fs)
NM_000162.5(GCK):c.1016A>G (p.Glu339Gly) rs1057524903
NM_000162.5(GCK):c.1019+2T>G rs193929376
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.1020-1G>A rs193922258
NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer) rs1562713041
NM_000162.5(GCK):c.1072C>T (p.Arg358Ter)
NM_000162.5(GCK):c.1083dup (p.Thr362fs)
NM_000162.5(GCK):c.1092C>A (p.Cys364Ter)
NM_000162.5(GCK):c.1099G>A (p.Val367Met) rs1057521092
NM_000162.5(GCK):c.1105del (p.Arg369fs)
NM_000162.5(GCK):c.1113C>A (p.Cys371Ter) rs556581174
NM_000162.5(GCK):c.1116del (p.Ser373fs)
NM_000162.5(GCK):c.1121_1132del (p.Val374_Arg377del)
NM_000162.5(GCK):c.112C>T (p.Gln38Ter) rs878853246
NM_000162.5(GCK):c.1130G>T (p.Arg377Leu) rs193922264
NM_000162.5(GCK):c.1133_1149del (p.Ala378fs) rs1554334610
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.5(GCK):c.1136C>T (p.Ala379Val) rs193922265
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.5(GCK):c.1141_1142del (p.Met381fs)
NM_000162.5(GCK):c.1141_1142insCATA (p.Met381fs)
NM_000162.5(GCK):c.1142T>C (p.Met381Thr)
NM_000162.5(GCK):c.1144T>C (p.Cys382Arg) rs1554334613
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1155del (p.Leu386fs) rs1400535021
NM_000162.5(GCK):c.1155dup (p.Leu386fs) rs1400535021
NM_000162.5(GCK):c.1156del (p.Leu386fs)
NM_000162.5(GCK):c.1162_1364del203 (p.Val389fs)
NM_000162.5(GCK):c.1163dup (p.Val389fs) rs886042015
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.1178T>C (p.Met393Thr) rs2096271425
NM_000162.5(GCK):c.1183G>T (p.Glu395Ter)
NM_000162.5(GCK):c.1186_1187dup (p.Ser396fs)
NM_000162.5(GCK):c.118G>A (p.Glu40Lys) rs794727236
NM_000162.5(GCK):c.1195G>T (p.Glu399Ter)
NM_000162.5(GCK):c.1210_1211del (p.Ile404fs)
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.1245del (p.His416fs) rs2128819113
NM_000162.5(GCK):c.1253+2T>C
NM_000162.5(GCK):c.1268T>A (p.Phe423Tyr) rs193922273
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln) rs193922274
NM_000162.5(GCK):c.127C>A (p.Arg43Ser) rs1486280029
NM_000162.5(GCK):c.127C>T (p.Arg43Cys) rs1486280029
NM_000162.5(GCK):c.1280_1283dup (p.Arg429fs) rs2096270699
NM_000162.5(GCK):c.1284_1362del (p.Arg429fs) rs2096270423
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.130G>A (p.Gly44Ser) rs267601516
NM_000162.5(GCK):c.1315_1322del (p.Ile439fs)
NM_000162.5(GCK):c.1318G>T (p.Glu440Ter)
NM_000162.5(GCK):c.1322C>G (p.Ser441Trp) rs1286804191
NM_000162.5(GCK):c.1324G>T (p.Glu442Ter) rs758737171
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.1340_1368del (p.Arg447fs) rs1339598338
NM_000162.5(GCK):c.1344del (p.Ala449fs) rs1057524901
NM_000162.5(GCK):c.1348G>T (p.Ala450Ser)
NM_000162.5(GCK):c.1358C>G (p.Ser453Trp)
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
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.140dup (p.Glu48fs) rs2128823146
NM_000162.5(GCK):c.148C>T (p.His50Tyr) rs1562719705
NM_000162.5(GCK):c.148del (p.His50fs) rs886041690
NM_000162.5(GCK):c.148dup (p.His50fs) rs886041690
NM_000162.5(GCK):c.171G>T (p.Met57Ile) rs1057520109
NM_000162.5(GCK):c.175C>T (p.Pro59Ser) rs193922287
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.185T>C (p.Val62Ala) rs1444739794
NM_000162.5(GCK):c.18del (p.Arg7fs) rs2128834774
NM_000162.5(GCK):c.208+1G>A rs1554335913
NM_000162.5(GCK):c.208G>A (p.Glu70Lys) rs2128823091
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.255_256del (p.Arg85fs)
NM_000162.5(GCK):c.286G>T (p.Glu96Ter) rs2096281776
NM_000162.5(GCK):c.291del (p.Gln98fs) rs1562719029
NM_000162.5(GCK):c.295T>C (p.Trp99Arg) rs1554335751
NM_000162.5(GCK):c.307A>T (p.Thr103Ser) rs2096281726
NM_000162.5(GCK):c.307del (p.Thr103fs) rs2128822668
NM_000162.5(GCK):c.316C>T (p.Gln106Ter) rs2096281702
NM_000162.5(GCK):c.320dup (p.Met107fs) rs2128822650
NM_000162.5(GCK):c.344dup (p.Met115fs)
NM_000162.5(GCK):c.359dup (p.Met121fs) rs2128822614
NM_000162.5(GCK):c.363+1G>T
NM_000162.5(GCK):c.364-1G>A rs1057521094
NM_000162.5(GCK):c.387C>A (p.Cys129Ter) rs1583601365
NM_000162.5(GCK):c.389T>C (p.Ile130Thr)
NM_000162.5(GCK):c.431del (p.Leu144fs) rs1064796410
NM_000162.5(GCK):c.435_436dup (p.Leu146fs) rs1064793428
NM_000162.5(GCK):c.437T>C (p.Leu146Pro)
NM_000162.5(GCK):c.43_45+1del
NM_000162.5(GCK):c.440del (p.Gly147fs) rs1554335585
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) rs193922297
NM_000162.5(GCK):c.45+1G>T rs781260712
NM_000162.5(GCK):c.452_454del (p.Ser151del)
NM_000162.5(GCK):c.46-2A>G rs1554335966
NM_000162.5(GCK):c.468del (p.His156fs)
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.475A>G (p.Ile159Val) rs1319364468
NM_000162.5(GCK):c.478G>A (p.Asp160Asn) rs1554335566
NM_000162.5(GCK):c.481A>T (p.Lys161Ter)
NM_000162.5(GCK):c.483+1G>T
NM_000162.5(GCK):c.483+2T>C rs1554335564
NM_000162.5(GCK):c.483+2_483+16del rs1583601110
NM_000162.5(GCK):c.483G>A (p.Lys161=) rs193922302
NM_000162.5(GCK):c.484-1G>A
NM_000162.5(GCK):c.484-2A>G
NM_000162.5(GCK):c.490del (p.Leu164fs)
NM_000162.5(GCK):c.500G>A (p.Trp167Ter)
NM_000162.5(GCK):c.501G>A (p.Trp167Ter) rs1470521850
NM_000162.5(GCK):c.520del (p.Ser174fs)
NM_000162.5(GCK):c.529_536del (p.Glu177fs)
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.556C>T (p.Arg186Ter) rs104894006
NM_000162.5(GCK):c.562G>A (p.Ala188Thr) rs751279776
NM_000162.5(GCK):c.564_567dup (p.Lys190fs) rs2128821589
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.580-2A>G
NM_000162.5(GCK):c.586G>T (p.Glu196Ter)
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.606_607insACACCGT (p.Val203fs) rs2128821515
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000162.5(GCK):c.609_610del (p.Val203_Asn204insTer)
NM_000162.5(GCK):c.613G>C (p.Asp205His)
NM_000162.5(GCK):c.615C>G (p.Asp205Glu) rs193922312
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.617C>T (p.Thr206Met) rs1441649062
NM_000162.5(GCK):c.626C>T (p.Thr209Met) rs1583599303
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.632T>C (p.Ile211Thr)
NM_000162.5(GCK):c.637T>C (p.Cys213Arg)
NM_000162.5(GCK):c.641A>G (p.Tyr214Cys) rs104894015
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.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.661G>A (p.Glu221Lys) rs193922317
NM_000162.5(GCK):c.666del (p.Gly223fs) rs2096278285
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.675C>G (p.Ile225Met) rs772754004
NM_000162.5(GCK):c.679+1G>A rs2128821468
NM_000162.5(GCK):c.680-1G>A rs1057524905
NM_000162.5(GCK):c.680-2A>G rs1562715657
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.686del (p.Gly229fs) rs1554335164
NM_000162.5(GCK):c.692del (p.Asn231fs)
NM_000162.5(GCK):c.703A>G (p.Met235Val) rs1057521093
NM_000162.5(GCK):c.710del (p.Glu237fs)
NM_000162.5(GCK):c.715C>T (p.Gln239Ter)
NM_000162.5(GCK):c.728T>C (p.Leu243Pro) rs1470562535
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.760A>C (p.Asn254His) rs193922327
NM_000162.5(GCK):c.762T>A (p.Asn254Lys) rs1554335141
NM_000162.5(GCK):c.763A>G (p.Thr255Ala)
NM_000162.5(GCK):c.763_779dup (p.Phe260fs) rs1554335128
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000162.5(GCK):c.766G>T (p.Glu256Ter)
NM_000162.5(GCK):c.769T>C (p.Trp257Arg) rs1554335135
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.771G>A (p.Trp257Ter) rs2128820597
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.781G>C (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.785del (p.Asp262fs)
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.821A>C (p.Asp274Ala)
NM_000162.5(GCK):c.834C>A (p.Asp278Glu)
NM_000162.5(GCK):c.834C>G (p.Asp278Glu)
NM_000162.5(GCK):c.854del (p.Gly285fs) rs1583596063
NM_000162.5(GCK):c.856C>T (p.Gln286Ter)
NM_000162.5(GCK):c.863+1G>A rs1376796469
NM_000162.5(GCK):c.863+1G>C
NM_000162.5(GCK):c.864-1G>A rs1167675604
NM_000162.5(GCK):c.866A>G (p.Tyr289Cys)
NM_000162.5(GCK):c.867T>A (p.Tyr289Ter) rs1192394824
NM_000162.5(GCK):c.86del (p.Asp29fs) rs2128823213
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) rs193922335
NM_000162.5(GCK):c.883G>A (p.Gly295Ser) rs1554334905
NM_000162.5(GCK):c.895G>C (p.Gly299Arg) rs104894009
NM_000162.5(GCK):c.896G>A (p.Gly299Asp)
NM_000162.5(GCK):c.904G>C (p.Val302Leu) rs1583594501
NM_000162.5(GCK):c.908G>T (p.Arg303Leu) rs1312678560
NM_000162.5(GCK):c.926T>C (p.Leu309Pro) rs2128820009
NM_000162.5(GCK):c.944T>A (p.Leu315His) rs193922338
NM_000162.5(GCK):c.952G>A (p.Gly318Arg) rs193922340
NM_000162.5(GCK):c.971T>C (p.Leu324Pro) rs193922341
NM_000162.5(GCK):c.98T>C (p.Val33Ala) rs1554335954
NM_033507.2(GCK):c.488del rs1246464603

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