ClinVar Miner

List of variants in gene GCK reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 102
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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.209-8G>A rs144798843 0.00249
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813 0.00109
NM_000162.5(GCK):c.-455A>G rs140894490 0.00101
NM_000162.5(GCK):c.-215A>G rs13306390 0.00065
NM_000162.5(GCK):c.-281G>C rs570705419 0.00058
NM_000162.5(GCK):c.-453C>T rs191795044 0.00049
NM_000162.5(GCK):c.-98C>T rs200216829 0.00024
NM_000162.5(GCK):c.-102G>A rs781377703 0.00023
NM_000162.5(GCK):c.735G>A (p.Glu245=) rs775481896 0.00016
NM_000162.5(GCK):c.1288C>T (p.Leu430=) rs193922276 0.00013
NM_000162.5(GCK):c.-299A>G rs765620490 0.00012
NM_000162.5(GCK):c.363+9C>T rs200985182 0.00011
NM_000162.5(GCK):c.-375C>T rs775776110 0.00009
NM_000162.5(GCK):c.1020-19_1020-5dup rs760999682 0.00009
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00009
NM_000162.5(GCK):c.-135G>A rs746492953 0.00003
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000162.3(GCK):c.-487C>G rs1329261791 0.00002
NM_000162.5(GCK):c.-452G>A rs187173652 0.00002
NM_000162.5(GCK):c.784G>A (p.Asp262Asn) rs779460424 0.00002
NM_000162.3(GCK):c.-534C>T rs182891400 0.00001
NM_000162.5(GCK):c.1120G>C (p.Val374Leu) rs1415041911 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.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000162.5(GCK):c.908G>A (p.Arg303Gln) rs1312678560 0.00001
NM_000162.5(GCK):c.1003del (p.Val335fs) rs193922254
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe) rs587780343
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del) rs1131691505
NM_000162.5(GCK):c.1147T>C (p.Ser383Pro) rs749298368
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1165G>C (p.Val389Leu) rs1350717554
NM_000162.5(GCK):c.1173C>A (p.Asn391Lys) rs1554334579
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp) rs1554334546
NM_000162.5(GCK):c.1245del (p.His416fs) rs2128819113
NM_000162.5(GCK):c.130G>A (p.Gly44Ser) rs267601516
NM_000162.5(GCK):c.1319A>G (p.Glu440Gly) rs2128818815
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.5(GCK):c.1324G>T (p.Glu442Ter) rs758737171
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.1367C>T (p.Ala456Val) rs104894014
NM_000162.5(GCK):c.148C>T (p.His50Tyr) rs1562719705
NM_000162.5(GCK):c.158C>T (p.Ala53Val) rs2128823130
NM_000162.5(GCK):c.207A>G (p.Ser69=) rs779548342
NM_000162.5(GCK):c.215G>A (p.Gly72Glu) rs2128822720
NM_000162.5(GCK):c.295del (p.Trp99fs) rs1554335752
NM_000162.5(GCK):c.317_333del (p.Gln106fs) rs797045595
NM_000162.5(GCK):c.317del (p.Gln106fs) rs2128822656
NM_000162.5(GCK):c.333C>G (p.Pro111=) rs61736250
NM_000162.5(GCK):c.356C>A (p.Ala119Asp) rs1176659689
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.5(GCK):c.364C>G (p.Leu122Val) rs1554335616
NM_000162.5(GCK):c.367T>C (p.Phe123Leu)
NM_000162.5(GCK):c.422A>C (p.His141Pro) rs2128822078
NM_000162.5(GCK):c.423C>A (p.His141Gln) rs1299283674
NM_000162.5(GCK):c.449T>A (p.Phe150Tyr) rs193922297
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.477C>G (p.Ile159Met) rs1554335567
NM_000162.5(GCK):c.511T>G (p.Phe171Val) rs2128821636
NM_000162.5(GCK):c.523G>A (p.Gly175Arg) rs587780344
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.562G>A (p.Ala188Thr) rs751279776
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.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.617C>T (p.Thr206Met) rs1441649062
NM_000162.5(GCK):c.623C>T (p.Ala208Val) rs746913146
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.632T>A (p.Ile211Asn) rs1554335400
NM_000162.5(GCK):c.635_637del (p.Ser212del) rs193922314
NM_000162.5(GCK):c.666del (p.Gly223fs) rs2096278285
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.678_679+2del rs1554335391
NM_000162.5(GCK):c.680-2A>G rs1562715657
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.706G>A (p.Glu236Lys) rs587780347
NM_000162.5(GCK):c.749G>A (p.Arg250His) rs370375148
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.5(GCK):c.775G>A (p.Ala259Thr) rs1375656631
NM_000162.5(GCK):c.793G>A (p.Glu265Lys) rs104894011
NM_000162.5(GCK):c.824G>T (p.Arg275Leu) rs767565869
NM_000162.5(GCK):c.835G>A (p.Glu279Lys) rs104894005
NM_000162.5(GCK):c.835G>C (p.Glu279Gln) rs104894005
NM_000162.5(GCK):c.871A>G (p.Lys291Glu) rs193922335
NM_000162.5(GCK):c.926T>C (p.Leu309Pro) rs2128820009
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.981C>G (p.Arg327=) rs766907428
NM_000162.5(GCK):c.98T>A (p.Val33Glu) rs1554335954

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