ClinVar Miner

List of variants in gene GCK reported by Ambry Genetics

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Gene type:
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Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.34109
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166 0.00663
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813 0.00109
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318 0.00011
NM_000162.5(GCK):c.393C>T (p.Ser131=) rs139139350 0.00009
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00009
NM_000162.5(GCK):c.270G>A (p.Lys90=) rs571528578 0.00005
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000162.5(GCK):c.138G>A (p.Arg46=) rs550111033 0.00003
NM_000162.5(GCK):c.198A>G (p.Pro66=) rs377410513 0.00003
NM_000162.5(GCK):c.1324G>A (p.Glu442Lys) rs758737171 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 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.952G>T (p.Gly318Trp) rs193922340 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.1077del (p.Ser360fs)
NM_000162.5(GCK):c.1086C>T (p.Thr362=)
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1129C>A (p.Arg377Ser)
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.5(GCK):c.1137G>A (p.Ala379=)
NM_000162.5(GCK):c.1139A>C (p.His380Pro) rs2128819280
NM_000162.5(GCK):c.1141_1142del (p.Met381fs)
NM_000162.5(GCK):c.1150G>A (p.Ala384Thr) rs1376620210
NM_000162.5(GCK):c.1151C>A (p.Ala384Glu)
NM_000162.5(GCK):c.1156del (p.Leu386fs)
NM_000162.5(GCK):c.1161G>C (p.Ala387=)
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) rs2096271482
NM_000162.5(GCK):c.1182C>T (p.Arg394=)
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly) rs193922271
NM_000162.5(GCK):c.1219G>A (p.Gly407Ser) rs2096271295
NM_000162.5(GCK):c.1233C>G (p.Ser411=) rs755112715
NM_000162.5(GCK):c.1253+1G>C
NM_000162.5(GCK):c.1260G>T (p.Lys420Asn)
NM_000162.5(GCK):c.1264C>T (p.Arg422Trp)
NM_000162.5(GCK):c.1288C>G (p.Leu430Val)
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs)
NM_000162.5(GCK):c.1310C>G (p.Thr437Ser) rs1185622190
NM_000162.5(GCK):c.132C>T (p.Gly44=)
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) rs193922281
NM_000162.5(GCK):c.1348G>T (p.Ala450Ser)
NM_000162.5(GCK):c.1359G>T (p.Ser453=)
NM_000162.5(GCK):c.1389G>A (p.Leu463=)
NM_000162.5(GCK):c.151G>T (p.Glu51Ter)
NM_000162.5(GCK):c.171G>A (p.Met57Ile) rs1057520109
NM_000162.5(GCK):c.179C>T (p.Thr60Ile) rs747783371
NM_000162.5(GCK):c.183C>A (p.Tyr61Ter) rs780612692
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.264G>A (p.Leu88=)
NM_000162.5(GCK):c.295del (p.Trp99fs) rs1554335752
NM_000162.5(GCK):c.300C>T (p.Ser100=)
NM_000162.5(GCK):c.360G>A (p.Glu120=)
NM_000162.5(GCK):c.364-1G>A rs1057521094
NM_000162.5(GCK):c.393del (p.Asp132fs) rs193922295
NM_000162.5(GCK):c.445dup (p.Thr149fs)
NM_000162.5(GCK):c.447C>T (p.Thr149=)
NM_000162.5(GCK):c.455T>C (p.Phe152Ser)
NM_000162.5(GCK):c.457C>T (p.Pro153Ser) rs193922300
NM_000162.5(GCK):c.458C>A (p.Pro153His)
NM_000162.5(GCK):c.463A>G (p.Arg155Gly) rs193922301
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.478G>C (p.Asp160His)
NM_000162.5(GCK):c.483+1G>A
NM_000162.5(GCK):c.523G>A (p.Gly175Arg) rs587780344
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.525A>G (p.Gly175=)
NM_000162.5(GCK):c.534G>A (p.Gly178=)
NM_000162.5(GCK):c.535A>G (p.Asn179Asp)
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.554T>G (p.Leu185Arg) rs1583599749
NM_000162.5(GCK):c.556C>A (p.Arg186=)
NM_000162.5(GCK):c.556C>T (p.Arg186Ter) rs104894006
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.580-1G>C
NM_000162.5(GCK):c.595G>A (p.Val199Met) rs1554335417
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
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.623C>T (p.Ala208Val) rs746913146
NM_000162.5(GCK):c.626C>T (p.Thr209Met) rs1583599303
NM_000162.5(GCK):c.627GAT[3] (p.Met210_Ile211insMet)
NM_000162.5(GCK):c.630G>T (p.Met210Ile) rs193922313
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.656del (p.Gln219fs)
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr) rs193922316
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.675C>G (p.Ile225Met) rs772754004
NM_000162.5(GCK):c.679+1G>A rs2128821468
NM_000162.5(GCK):c.680-2A>G rs1562715657
NM_000162.5(GCK):c.680G>A (p.Gly227Asp) rs2128820681
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.695C>A (p.Ala232Asp)
NM_000162.5(GCK):c.730G>A (p.Val244Met) rs1240035630
NM_000162.5(GCK):c.731T>A (p.Val244Glu)
NM_000162.5(GCK):c.731T>G (p.Val244Gly)
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.756C>T (p.Cys252=)
NM_000162.5(GCK):c.766G>T (p.Glu256Ter)
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.818A>T (p.Tyr273Phe) rs1182603872
NM_000162.5(GCK):c.867T>A (p.Tyr289Ter) rs1192394824
NM_000162.5(GCK):c.871A>C (p.Lys291Gln)
NM_000162.5(GCK):c.907C>T (p.Arg303Trp) rs193922336
NM_000162.5(GCK):c.917T>C (p.Leu306Pro) rs193922337
NM_000162.5(GCK):c.921C>G (p.Leu307=)
NM_000162.5(GCK):c.941T>C (p.Leu314Pro) rs1554334886
NM_000162.5(GCK):c.962_963dup (p.Glu322fs)
NM_000162.5(GCK):c.982G>T (p.Gly328Ter)
NM_000162.5(GCK):c.98T>A (p.Val33Glu) rs1554335954

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