ClinVar Miner

List of variants in gene GCK studied for Monogenic diabetes

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 261
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166 0.00663
NM_000162.5(GCK):c.649G>A (p.Asp217Asn) rs147065275 0.00011
NM_000162.5(GCK):c.203G>A (p.Gly68Asp) rs373418736 0.00004
NM_000162.5(GCK):c.646G>A (p.Glu216Lys) rs778550411 0.00004
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000162.5(GCK):c.142G>A (p.Glu48Lys) rs759514960 0.00003
NM_000162.5(GCK):c.10G>A (p.Asp4Asn) rs202091228 0.00002
NM_000162.5(GCK):c.1285A>C (p.Arg429=) rs140672134 0.00002
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe) rs193922260 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 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.605T>C (p.Met202Thr) rs193922311 0.00001
NM_000162.5(GCK):c.622G>A (p.Ala208Thr) rs1476637197 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.823C>T (p.Arg275Cys) rs556436603 0.00001
NM_000162.5(GCK):c.824G>A (p.Arg275His) rs767565869 0.00001
NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC rs2096270755
NM_000162.5(GCK):c.-97G>A
NM_000162.5(GCK):c.1003del (p.Val335fs) rs193922254
NM_000162.5(GCK):c.1015G>A (p.Glu339Lys) rs397514580
NM_000162.5(GCK):c.1016A>G (p.Glu339Gly) rs1057524903
NM_000162.5(GCK):c.1017G>C (p.Glu339Asp) rs954171452
NM_000162.5(GCK):c.1019+1G>A
NM_000162.5(GCK):c.1019+1G>T
NM_000162.5(GCK):c.1019+2T>G rs193929376
NM_000162.5(GCK):c.1019+5G>A
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) rs1000236360
NM_000162.5(GCK):c.1030_1039del (p.Asp344fs)
NM_000162.5(GCK):c.1064T>C (p.Leu355Pro) rs1583592156
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1099G>A (p.Val367Met) rs1057521092
NM_000162.5(GCK):c.1099G>T (p.Val367Leu)
NM_000162.5(GCK):c.109A>G (p.Met37Val)
NM_000162.5(GCK):c.110T>A (p.Met37Lys)
NM_000162.5(GCK):c.110T>C (p.Met37Thr)
NM_000162.5(GCK):c.110T>G (p.Met37Arg)
NM_000162.5(GCK):c.1111T>C (p.Cys371Arg)
NM_000162.5(GCK):c.1112G>A (p.Cys371Tyr)
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe) rs587780343
NM_000162.5(GCK):c.1113C>A (p.Cys371Ter) rs556581174
NM_000162.5(GCK):c.1113C>G (p.Cys371Trp) rs556581174
NM_000162.5(GCK):c.1114G>T (p.Glu372Ter) rs193922262
NM_000162.5(GCK):c.1120G>A (p.Val374Met) rs1415041911
NM_000162.5(GCK):c.1121T>A (p.Val374Glu)
NM_000162.5(GCK):c.1129C>A (p.Arg377Ser)
NM_000162.5(GCK):c.1129C>T (p.Arg377Cys) rs1471992838
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1130G>T (p.Arg377Leu) rs193922264
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del) rs1131691505
NM_000162.5(GCK):c.1132G>A (p.Ala378Thr) rs104894016
NM_000162.5(GCK):c.1132G>C (p.Ala378Pro)
NM_000162.5(GCK):c.1133C>A (p.Ala378Asp)
NM_000162.5(GCK):c.1133C>G (p.Ala378Gly) rs193929374
NM_000162.5(GCK):c.1133C>T (p.Ala378Val) rs193929374
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>G (p.Ala379Gly) rs193922265
NM_000162.5(GCK):c.1136C>T (p.Ala379Val) rs193922265
NM_000162.5(GCK):c.1139A>C (p.His380Pro) rs2128819280
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.5(GCK):c.113A>T (p.Gln38Leu)
NM_000162.5(GCK):c.1142T>A (p.Met381Lys) rs193922266
NM_000162.5(GCK):c.1142T>C (p.Met381Thr)
NM_000162.5(GCK):c.1142T>G (p.Met381Arg) rs193922266
NM_000162.5(GCK):c.1144T>C (p.Cys382Arg) rs1554334613
NM_000162.5(GCK):c.1144T>G (p.Cys382Gly)
NM_000162.5(GCK):c.1144del (p.Cys382fs)
NM_000162.5(GCK):c.1145G>A (p.Cys382Tyr) rs2096271616
NM_000162.5(GCK):c.1146C>A (p.Cys382Ter) rs1583591809
NM_000162.5(GCK):c.1147T>A (p.Ser383Thr)
NM_000162.5(GCK):c.1148C>G (p.Ser383Trp)
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1148del (p.Ser383fs) rs2096271597
NM_000162.5(GCK):c.1159G>A (p.Ala387Thr)
NM_000162.5(GCK):c.1160C>A (p.Ala387Glu) rs193921338
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) rs2096271482
NM_000162.5(GCK):c.1174C>A (p.Arg392Ser)
NM_000162.5(GCK):c.1174C>G (p.Arg392Gly) rs1167124132
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.1175G>C (p.Arg392Pro)
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu) rs193922269
NM_000162.5(GCK):c.1181G>C (p.Arg394Pro)
NM_000162.5(GCK):c.1181G>T (p.Arg394Leu) rs1235227560
NM_000162.5(GCK):c.1189C>G (p.Arg397Gly)
NM_000162.5(GCK):c.1189C>T (p.Arg397Cys)
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) rs193929375
NM_000162.5(GCK):c.122T>C (p.Met41Thr) rs1057524906
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.1240A>T (p.Lys414Ter)
NM_000162.5(GCK):c.1253+2T>A rs1057524902
NM_000162.5(GCK):c.1254-12_1257del
NM_000162.5(GCK):c.1254-13C>A
NM_000162.5(GCK):c.1254-1G>C
NM_000162.5(GCK):c.1254-1G>T
NM_000162.5(GCK):c.1254-2A>G
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu) rs1554334478
NM_000162.5(GCK):c.1255T>G (p.Phe419Val)
NM_000162.5(GCK):c.1256T>C (p.Phe419Ser)
NM_000162.5(GCK):c.1261del (p.Glu421fs)
NM_000162.5(GCK):c.1265_1273delinsTGCGAGCCACCTTCAT (p.Arg422fs)
NM_000162.5(GCK):c.1270C>T (p.His424Tyr)
NM_000162.5(GCK):c.1278_1279del (p.Val427fs) rs2128818859
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln) rs193922274
NM_000162.5(GCK):c.127C>T (p.Arg43Cys) rs1486280029
NM_000162.5(GCK):c.1283_1284del (p.Arg428fs) rs193922275
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs)
NM_000162.5(GCK):c.1298_1309del (p.Ser433_Ile436del)
NM_000162.5(GCK):c.1302C>A (p.Cys434Ter)
NM_000162.5(GCK):c.1306A>T (p.Ile436Phe)
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) rs1185622190
NM_000162.5(GCK):c.1312_1314del (p.Phe438del)
NM_000162.5(GCK):c.1313T>A (p.Phe438Tyr)
NM_000162.5(GCK):c.1317C>T (p.Ile439=) rs1554334455
NM_000162.5(GCK):c.1318G>T (p.Glu440Ter)
NM_000162.5(GCK):c.1319_1323dup (p.Glu442fs)
NM_000162.5(GCK):c.1322C>A (p.Ser441Ter)
NM_000162.5(GCK):c.1322C>G (p.Ser441Trp) rs1286804191
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.5(GCK):c.1327G>T (p.Glu443Ter) rs1562711915
NM_000162.5(GCK):c.1331G>A (p.Gly444Asp)
NM_000162.5(GCK):c.1331dup (p.Ser445fs)
NM_000162.5(GCK):c.1332del (p.Ser445fs) rs193922280
NM_000162.5(GCK):c.1335_1345del (p.Arg447fs)
NM_000162.5(GCK):c.1339del (p.Arg447fs) rs1064795242
NM_000162.5(GCK):c.1339dup (p.Arg447fs)
NM_000162.5(GCK):c.1340_1368del (p.Arg447fs) rs1339598338
NM_000162.5(GCK):c.1343del (p.Gly448fs)
NM_000162.5(GCK):c.1344del (p.Ala449fs) rs1057524901
NM_000162.5(GCK):c.1346_1347del (p.Ala449fs)
NM_000162.5(GCK):c.1346_1362del (p.Ala449fs)
NM_000162.5(GCK):c.1348del (p.Ala450fs)
NM_000162.5(GCK):c.1351del (p.Leu451fs)
NM_000162.5(GCK):c.1358C>A (p.Ser453Ter)
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.1358_*127delinsT (p.Ser453fs)
NM_000162.5(GCK):c.1360del (p.Ala454fs) rs1583590393
NM_000162.5(GCK):c.1361C>A (p.Ala454Glu) rs1057524900
NM_000162.5(GCK):c.1363dup (p.Val455fs)
NM_000162.5(GCK):c.1368del (p.Cys457fs)
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs) rs193922284
NM_000162.5(GCK):c.1373_1376del (p.Lys458fs)
NM_000162.5(GCK):c.1373_1384del (p.Lys458_Cys461del)
NM_000162.5(GCK):c.1379_*2del (p.Ala460fs)
NM_000162.5(GCK):c.1391_1392del (p.Gly464fs)
NM_000162.5(GCK):c.1391del (p.Gly464fs)
NM_000162.5(GCK):c.1396T>C (p.Ter466Arg)
NM_000162.5(GCK):c.1398A>G (p.Ter466Trp)
NM_000162.5(GCK):c.1398A>T (p.Ter466Cys)
NM_000162.5(GCK):c.146C>A (p.Thr49Asn) rs193922286
NM_000162.5(GCK):c.167A>C (p.Lys56Thr)
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.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.322T>C (p.Tyr108His) rs193922292
NM_000162.5(GCK):c.322T>G (p.Tyr108Asp) rs193922292
NM_000162.5(GCK):c.323A>G (p.Tyr108Cys)
NM_000162.5(GCK):c.323A>T (p.Tyr108Phe)
NM_000162.5(GCK):c.324C>A (p.Tyr108Ter)
NM_000162.5(GCK):c.349G>C (p.Gly117Arg) rs748554061
NM_000162.5(GCK):c.350G>T (p.Gly117Val)
NM_000162.5(GCK):c.363+2T>A
NM_000162.5(GCK):c.389T>A (p.Ile130Asn)
NM_000162.5(GCK):c.389T>C (p.Ile130Thr)
NM_000162.5(GCK):c.3G>A (p.Met1Ile)
NM_000162.5(GCK):c.437T>C (p.Leu146Pro)
NM_000162.5(GCK):c.437T>G (p.Leu146Arg)
NM_000162.5(GCK):c.440G>A (p.Gly147Asp) rs193922296
NM_000162.5(GCK):c.442T>A (p.Phe148Ile) rs1554335582
NM_000162.5(GCK):c.443T>C (p.Phe148Ser)
NM_000162.5(GCK):c.449T>A (p.Phe150Tyr) rs193922297
NM_000162.5(GCK):c.449_451del (p.Phe150del)
NM_000162.5(GCK):c.45G>A (p.Lys15=)
NM_000162.5(GCK):c.461T>G (p.Val154Gly)
NM_000162.5(GCK):c.465G>T (p.Arg155Ser)
NM_000162.5(GCK):c.466C>T (p.His156Tyr) rs1562718043
NM_000162.5(GCK):c.483G>A (p.Lys161=) rs193922302
NM_000162.5(GCK):c.502A>C (p.Thr168Pro)
NM_000162.5(GCK):c.502A>G (p.Thr168Ala)
NM_000162.5(GCK):c.503C>A (p.Thr168Asn)
NM_000162.5(GCK):c.503C>T (p.Thr168Ile) rs2096278825
NM_000162.5(GCK):c.509_517dup (p.Lys172_Ala173insGlyPheLys)
NM_000162.5(GCK):c.521C>T (p.Ser174Leu)
NM_000162.5(GCK):c.523G>A (p.Gly175Arg) rs587780344
NM_000162.5(GCK):c.523G>C (p.Gly175Arg)
NM_000162.5(GCK):c.524G>A (p.Gly175Glu)
NM_000162.5(GCK):c.524G>C (p.Gly175Ala) rs2128821624
NM_000162.5(GCK):c.524G>T (p.Gly175Val)
NM_000162.5(GCK):c.53del (p.Gln18fs)
NM_000162.5(GCK):c.565A>G (p.Ile189Val)
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.567C>G (p.Ile189Met)
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.604A>G (p.Met202Val) rs193922310
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
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.622G>C (p.Ala208Pro)
NM_000162.5(GCK):c.623C>T (p.Ala208Val) rs746913146
NM_000162.5(GCK):c.626C>T (p.Thr209Met) rs1583599303
NM_000162.5(GCK):c.627_628delinsAG (p.Met210Val)
NM_000162.5(GCK):c.628A>G (p.Met210Val)
NM_000162.5(GCK):c.629T>A (p.Met210Lys) rs80356654
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.630G>A (p.Met210Ile)
NM_000162.5(GCK):c.630G>T (p.Met210Ile) rs193922313
NM_000162.5(GCK):c.658T>C (p.Cys220Arg) rs193922315
NM_000162.5(GCK):c.659G>T (p.Cys220Phe)
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.676G>C (p.Val226Leu)
NM_000162.5(GCK):c.677T>C (p.Val226Ala) rs193922319
NM_000162.5(GCK):c.679+3A>T
NM_000162.5(GCK):c.680-1G>A rs1057524905
NM_000162.5(GCK):c.680-2A>G rs1562715657
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000162.5(GCK):c.683C>A (p.Thr228Lys)
NM_000162.5(GCK):c.683C>G (p.Thr228Arg)
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.688T>C (p.Cys230Arg) rs794727839
NM_000162.5(GCK):c.689G>A (p.Cys230Tyr)
NM_000162.5(GCK):c.736G>A (p.Gly246Arg) rs2096275721
NM_000162.5(GCK):c.737G>A (p.Gly246Glu) rs1583596522
NM_000162.5(GCK):c.737G>C (p.Gly246Ala) rs1583596522
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.749G>A (p.Arg250His) rs370375148
NM_000162.5(GCK):c.749G>C (p.Arg250Pro)
NM_000162.5(GCK):c.74T>A (p.Leu25Gln) rs193922325
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.775G>T (p.Ala259Ser)
NM_000162.5(GCK):c.776C>T (p.Ala259Val) rs1554335132
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.782G>A (p.Gly261Glu)
NM_000162.5(GCK):c.790G>A (p.Gly264Ser) rs193929373
NM_000162.5(GCK):c.797T>A (p.Leu266Gln)
NM_000162.5(GCK):c.797T>C (p.Leu266Pro)
NM_000162.5(GCK):c.802G>A (p.Glu268Lys) rs1554335111
NM_000162.5(GCK):c.808CTG[1] (p.Leu271del) rs2096275478
NM_000162.5(GCK):c.810_814del (p.Leu271fs)
NM_000162.5(GCK):c.823C>G (p.Arg275Gly)
NM_000162.5(GCK):c.824G>C (p.Arg275Pro)
NM_000162.5(GCK):c.824G>T (p.Arg275Leu) rs767565869
NM_000162.5(GCK):c.835G>C (p.Glu279Gln) rs104894005
NM_000162.5(GCK):c.883G>A (p.Gly295Ser) rs1554334905
NM_000162.5(GCK):c.884G>A (p.Gly295Asp) rs2096273902
NM_000162.5(GCK):c.884G>T (p.Gly295Val)
NM_000162.5(GCK):c.898G>A (p.Glu300Lys) rs1255911887
NM_000162.5(GCK):c.898G>C (p.Glu300Gln)
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000162.5(GCK):c.918_919delinsAT (p.Leu307Phe) rs1057524892
NM_000162.5(GCK):c.924del (p.Arg308fs)
NM_000162.5(GCK):c.952G>A (p.Gly318Arg) rs193922340
NM_000162.5(GCK):c.976A>C (p.Thr326Pro)
NM_000162.5(GCK):c.982G>T (p.Gly328Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.