ClinVar Miner

List of variants in gene GCK reported as likely pathogenic for Monogenic diabetes

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Gene type:
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Total variants: 106
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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.1042A>T (p.Ile348Phe) rs193922260 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC rs2096270755
NM_000162.5(GCK):c.1015G>A (p.Glu339Lys) rs397514580
NM_000162.5(GCK):c.1019+1G>T
NM_000162.5(GCK):c.1019+5G>A
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.109A>G (p.Met37Val)
NM_000162.5(GCK):c.110T>C (p.Met37Thr)
NM_000162.5(GCK):c.1111T>C (p.Cys371Arg)
NM_000162.5(GCK):c.1112G>A (p.Cys371Tyr)
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.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1130G>T (p.Arg377Leu) rs193922264
NM_000162.5(GCK):c.1132G>C (p.Ala378Pro)
NM_000162.5(GCK):c.1133C>G (p.Ala378Gly) 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>T (p.Ala379Val) rs193922265
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>G (p.Met381Arg) rs193922266
NM_000162.5(GCK):c.1144T>G (p.Cys382Gly)
NM_000162.5(GCK):c.1144del (p.Cys382fs)
NM_000162.5(GCK):c.1147T>A (p.Ser383Thr)
NM_000162.5(GCK):c.1148C>G (p.Ser383Trp)
NM_000162.5(GCK):c.1160C>A (p.Ala387Glu) 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.1175G>C (p.Arg392Pro)
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu) rs193922269
NM_000162.5(GCK):c.1189C>G (p.Arg397Gly)
NM_000162.5(GCK):c.1189C>T (p.Arg397Cys)
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.1256T>C (p.Phe419Ser)
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.1283_1284del (p.Arg428fs) rs193922275
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.1298_1309del (p.Ser433_Ile436del)
NM_000162.5(GCK):c.1306A>T (p.Ile436Phe)
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) rs1185622190
NM_000162.5(GCK):c.1331dup (p.Ser445fs)
NM_000162.5(GCK):c.1332del (p.Ser445fs) rs193922280
NM_000162.5(GCK):c.1344del (p.Ala449fs) rs1057524901
NM_000162.5(GCK):c.1346_1347del (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.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.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.146C>A (p.Thr49Asn) rs193922286
NM_000162.5(GCK):c.167A>C (p.Lys56Thr)
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.349G>C (p.Gly117Arg) rs748554061
NM_000162.5(GCK):c.350G>T (p.Gly117Val)
NM_000162.5(GCK):c.389T>A (p.Ile130Asn)
NM_000162.5(GCK):c.389T>C (p.Ile130Thr)
NM_000162.5(GCK):c.437T>G (p.Leu146Arg)
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.509_517dup (p.Lys172_Ala173insGlyPheLys)
NM_000162.5(GCK):c.524G>A (p.Gly175Glu)
NM_000162.5(GCK):c.567C>G (p.Ile189Met)
NM_000162.5(GCK):c.622G>C (p.Ala208Pro)
NM_000162.5(GCK):c.627_628delinsAG (p.Met210Val)
NM_000162.5(GCK):c.628A>G (p.Met210Val)
NM_000162.5(GCK):c.658T>C (p.Cys220Arg) rs193922315
NM_000162.5(GCK):c.677T>C (p.Val226Ala) rs193922319
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000162.5(GCK):c.688T>C (p.Cys230Arg) rs794727839
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.775G>T (p.Ala259Ser)
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.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.952G>A (p.Gly318Arg) rs193922340

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