ClinVar Miner

List of variants in gene CDK4 studied for Hereditary melanoma

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 252
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HGVS dbSNP
NC_000012.11:g.(?_58144429)_(58145510_?)dup
NC_000012.11:g.(?_58144433)_(58145506_?)dup
NC_000012.12:g.(?_57748525)_(57751717_?)dup
NC_000012.12:g.(?_57750646)_(57751717_?)dup
NM_000075.4(CDK4):c.102C>G (p.Leu34=)
NM_000075.4(CDK4):c.105G>A (p.Lys35=)
NM_000075.4(CDK4):c.107G>C (p.Ser36Thr)
NM_000075.4(CDK4):c.109G>A (p.Val37Met) rs1060501930
NM_000075.4(CDK4):c.111G>A (p.Val37=)
NM_000075.4(CDK4):c.116T>C (p.Val39Ala)
NM_000075.4(CDK4):c.117C>A (p.Val39=)
NM_000075.4(CDK4):c.119C>T (p.Pro40Leu)
NM_000075.4(CDK4):c.11C>A (p.Ser4Tyr)
NM_000075.4(CDK4):c.120C>T (p.Pro40=)
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720
NM_000075.4(CDK4):c.126AGG[2] (p.Gly48del) rs770784286
NM_000075.4(CDK4):c.127G>C (p.Gly43Arg) rs1595111088
NM_000075.4(CDK4):c.128G>A (p.Gly43Glu)
NM_000075.4(CDK4):c.132A>T (p.Gly44=) rs878853621
NM_000075.4(CDK4):c.132_143del (p.Gly45_Gly48del) rs749094206
NM_000075.4(CDK4):c.132_143dup (p.Gly45_Gly48dup)
NM_000075.4(CDK4):c.133G>A (p.Gly45Ser) rs876660318
NM_000075.4(CDK4):c.137G>A (p.Gly46Glu) rs878853622
NM_000075.4(CDK4):c.138A>G (p.Gly46=)
NM_000075.4(CDK4):c.141A>C (p.Gly47=) rs863224320
NM_000075.4(CDK4):c.142G>A (p.Gly48Ser) rs1595111053
NM_000075.4(CDK4):c.147T>C (p.Leu49=) rs1060504383
NM_000075.4(CDK4):c.14G>A (p.Arg5Gln) rs1031329993
NM_000075.4(CDK4):c.150C>T (p.Pro50=) rs1595111028
NM_000075.4(CDK4):c.153C>T (p.Ile51=) rs1555201373
NM_000075.4(CDK4):c.155G>A (p.Ser52Asn) rs760719270
NM_000075.4(CDK4):c.160G>A (p.Val54Ile) rs775085950
NM_000075.4(CDK4):c.165T>G (p.Arg55=) rs1595111002
NM_000075.4(CDK4):c.168G>A (p.Glu56=) rs1555201371
NM_000075.4(CDK4):c.169G>T (p.Val57Leu) rs1555201369
NM_000075.4(CDK4):c.172G>A (p.Ala58Thr)
NM_000075.4(CDK4):c.178C>T (p.Leu60=) rs1595110993
NM_000075.4(CDK4):c.180G>A (p.Leu60=) rs1555201367
NM_000075.4(CDK4):c.183G>A (p.Arg61=) rs771902016
NM_000075.4(CDK4):c.185G>A (p.Arg62Gln) rs1595110979
NM_000075.4(CDK4):c.189G>A (p.Leu63=)
NM_000075.4(CDK4):c.192G>A (p.Glu64=) rs587780666
NM_000075.4(CDK4):c.195T>C (p.Ala65=) rs770618992
NM_000075.4(CDK4):c.198T>C (p.Phe66=) rs1595110954
NM_000075.4(CDK4):c.19G>A (p.Glu7Lys) rs1000052939
NM_000075.4(CDK4):c.200A>T (p.Glu67Val)
NM_000075.4(CDK4):c.209A>G (p.Asn70Ser) rs1595110952
NM_000075.4(CDK4):c.210T>C (p.Asn70=) rs1162061851
NM_000075.4(CDK4):c.211G>A (p.Val71Ile) rs1555201364
NM_000075.4(CDK4):c.216C>A (p.Val72=)
NM_000075.4(CDK4):c.217C>T (p.Arg73Trp) rs1437365423
NM_000075.4(CDK4):c.218+3G>A
NM_000075.4(CDK4):c.218+6_218+7delinsGT
NM_000075.4(CDK4):c.218G>A (p.Arg73Gln)
NM_000075.4(CDK4):c.219-10C>T rs759302811
NM_000075.4(CDK4):c.219-5G>C rs1286893141
NM_000075.4(CDK4):c.219-5del
NM_000075.4(CDK4):c.219-7T>C rs543798269
NM_000075.4(CDK4):c.219-9T>C
NM_000075.4(CDK4):c.21G>A (p.Glu7=)
NM_000075.4(CDK4):c.222G>A (p.Leu74=) rs565645344
NM_000075.4(CDK4):c.222G>T (p.Leu74=) rs565645344
NM_000075.4(CDK4):c.222_223delinsCT (p.Met75Leu)
NM_000075.4(CDK4):c.223A>C (p.Met75Leu) rs1343218987
NM_000075.4(CDK4):c.223A>G (p.Met75Val)
NM_000075.4(CDK4):c.224T>G (p.Met75Arg) rs748983604
NM_000075.4(CDK4):c.228C>T (p.Asp76=) rs772531745
NM_000075.4(CDK4):c.229G>A (p.Val77Ile) rs730881670
NM_000075.4(CDK4):c.235G>C (p.Ala79Pro)
NM_000075.4(CDK4):c.244C>G (p.Arg82Gly)
NM_000075.4(CDK4):c.245G>A (p.Arg82Gln) rs3211612
NM_000075.4(CDK4):c.245G>C (p.Arg82Pro)
NM_000075.4(CDK4):c.248C>A (p.Thr83Asn) rs1595110800
NM_000075.4(CDK4):c.252C>T (p.Asp84=) rs780590939
NM_000075.4(CDK4):c.253C>G (p.Arg85Gly) rs759017803
NM_000075.4(CDK4):c.254G>A (p.Arg85Gln) rs587778184
NM_000075.4(CDK4):c.258G>A (p.Glu86=) rs1247612368
NM_000075.4(CDK4):c.261C>A (p.Ile87=) rs779482890
NM_000075.4(CDK4):c.261C>T (p.Ile87=) rs779482890
NM_000075.4(CDK4):c.263A>G (p.Lys88Arg) rs1463751654
NM_000075.4(CDK4):c.264G>A (p.Lys88=)
NM_000075.4(CDK4):c.267A>G (p.Val89=) rs886049715
NM_000075.4(CDK4):c.269C>T (p.Thr90Ile)
NM_000075.4(CDK4):c.271C>T (p.Leu91=)
NM_000075.4(CDK4):c.276G>A (p.Val92=)
NM_000075.4(CDK4):c.279T>C (p.Phe93=) rs1478574297
NM_000075.4(CDK4):c.279T>G (p.Phe93Leu) rs1478574297
NM_000075.4(CDK4):c.27G>A (p.Val9=)
NM_000075.4(CDK4):c.285T>C (p.His95=) rs757492324
NM_000075.4(CDK4):c.287T>C (p.Val96Ala)
NM_000075.4(CDK4):c.288A>G (p.Val96=) rs754092304
NM_000075.4(CDK4):c.289G>A (p.Asp97Asn) rs1060501932
NM_000075.4(CDK4):c.289G>C (p.Asp97His) rs1060501932
NM_000075.4(CDK4):c.28G>A (p.Ala10Thr)
NM_000075.4(CDK4):c.291C>A (p.Asp97Glu)
NM_000075.4(CDK4):c.295G>A (p.Asp99Asn)
NM_000075.4(CDK4):c.306A>C (p.Thr102=) rs201202764
NM_000075.4(CDK4):c.306A>G (p.Thr102=) rs201202764
NM_000075.4(CDK4):c.306_322del (p.Tyr103fs)
NM_000075.4(CDK4):c.307dup (p.Tyr103fs)
NM_000075.4(CDK4):c.309T>C (p.Tyr103=) rs554603181
NM_000075.4(CDK4):c.310C>A (p.Leu104Met) rs759535768
NM_000075.4(CDK4):c.312G>A (p.Leu104=)
NM_000075.4(CDK4):c.315C>A (p.Asp105Glu) rs1158206003
NM_000075.4(CDK4):c.315C>G (p.Asp105Glu)
NM_000075.4(CDK4):c.317A>G (p.Lys106Arg)
NM_000075.4(CDK4):c.319G>A (p.Ala107Thr)
NM_000075.4(CDK4):c.320C>T (p.Ala107Val)
NM_000075.4(CDK4):c.323C>A (p.Pro108His) rs1595110706
NM_000075.4(CDK4):c.331G>A (p.Gly111Ser) rs1277385976
NM_000075.4(CDK4):c.333C>A (p.Gly111=) rs1595110689
NM_000075.4(CDK4):c.333C>T (p.Gly111=)
NM_000075.4(CDK4):c.338C>A (p.Pro113Gln)
NM_000075.4(CDK4):c.339A>T (p.Pro113=)
NM_000075.4(CDK4):c.340G>C (p.Ala114Pro)
NM_000075.4(CDK4):c.342C>T (p.Ala114=) rs762471901
NM_000075.4(CDK4):c.343G>A (p.Glu115Lys) rs772938517
NM_000075.4(CDK4):c.343G>C (p.Glu115Gln) rs772938517
NM_000075.4(CDK4):c.344A>C (p.Glu115Ala)
NM_000075.4(CDK4):c.345A>C (p.Glu115Asp)
NM_000075.4(CDK4):c.347C>T (p.Thr116Met) rs1060501931
NM_000075.4(CDK4):c.348G>A (p.Thr116=) rs761353033
NM_000075.4(CDK4):c.349A>G (p.Ile117Val) rs776343973
NM_000075.4(CDK4):c.352A>C (p.Lys118Gln) rs772689692
NM_000075.4(CDK4):c.354+6T>A
NM_000075.4(CDK4):c.354+9G>C rs771456729
NM_000075.4(CDK4):c.355-10T>C rs1595110574
NM_000075.4(CDK4):c.355-3T>C
NM_000075.4(CDK4):c.355-4C>T
NM_000075.4(CDK4):c.356A>C (p.Asp119Ala)
NM_000075.4(CDK4):c.359T>A (p.Leu120Gln)
NM_000075.4(CDK4):c.364C>T (p.Arg122Cys) rs587778185
NM_000075.4(CDK4):c.365G>A (p.Arg122His) rs34386532
NM_000075.4(CDK4):c.367C>T (p.Gln123Ter) rs1565806579
NM_000075.4(CDK4):c.369G>T (p.Gln123His)
NM_000075.4(CDK4):c.370T>C (p.Phe124Leu)
NM_000075.4(CDK4):c.372T>C (p.Phe124=)
NM_000075.4(CDK4):c.375A>G (p.Leu125=)
NM_000075.4(CDK4):c.385G>A (p.Asp129Asn) rs876660606
NM_000075.4(CDK4):c.38G>A (p.Gly13Asp)
NM_000075.4(CDK4):c.392T>G (p.Leu131Arg)
NM_000075.4(CDK4):c.397G>A (p.Ala133Thr) rs751684879
NM_000075.4(CDK4):c.399C>T (p.Ala133=)
NM_000075.4(CDK4):c.401A>G (p.Asn134Ser) rs1595110530
NM_000075.4(CDK4):c.402T>C (p.Asn134=) rs537039467
NM_000075.4(CDK4):c.408C>A (p.Ile136=) rs758331285
NM_000075.4(CDK4):c.408C>T (p.Ile136=) rs758331285
NM_000075.4(CDK4):c.409G>A (p.Val137Ile) rs150281463
NM_000075.4(CDK4):c.409G>C (p.Val137Leu) rs150281463
NM_000075.4(CDK4):c.416G>A (p.Arg139Gln) rs763652580
NM_000075.4(CDK4):c.420T>C (p.Asp140=) rs863224321
NM_000075.4(CDK4):c.421C>G (p.Leu141Val) rs1246306482
NM_000075.4(CDK4):c.423G>A (p.Leu141=) rs760242081
NM_000075.4(CDK4):c.423G>C (p.Leu141=) rs760242081
NM_000075.4(CDK4):c.429A>G (p.Pro143=) rs863224322
NM_000075.4(CDK4):c.42C>T (p.Val14=) rs786203182
NM_000075.4(CDK4):c.431A>G (p.Glu144Gly) rs863224603
NM_000075.4(CDK4):c.43G>A (p.Gly15Ser) rs1355460580
NM_000075.4(CDK4):c.43G>C (p.Gly15Arg)
NM_000075.4(CDK4):c.442G>T (p.Val148Leu) rs1595110489
NM_000075.4(CDK4):c.444G>A (p.Val148=)
NM_000075.4(CDK4):c.444G>T (p.Val148=) rs1595110484
NM_000075.4(CDK4):c.447A>G (p.Thr149=) rs2069501
NM_000075.4(CDK4):c.451G>A (p.Gly151Ser) rs1280774592
NM_000075.4(CDK4):c.458C>G (p.Thr153Arg)
NM_000075.4(CDK4):c.458C>T (p.Thr153Ile) rs1443076952
NM_000075.4(CDK4):c.460G>C (p.Val154Leu) rs563692823
NM_000075.4(CDK4):c.461T>C (p.Val154Ala) rs1555201304
NM_000075.4(CDK4):c.462C>G (p.Val154=) rs1190412756
NM_000075.4(CDK4):c.465G>A (p.Lys155=)
NM_000075.4(CDK4):c.477del (p.Phe159fs) rs786203016
NM_000075.4(CDK4):c.481C>T (p.Leu161=) rs796860515
NM_000075.4(CDK4):c.484G>C (p.Ala162Pro) rs1555201301
NM_000075.4(CDK4):c.485C>A (p.Ala162Asp) rs1565806506
NM_000075.4(CDK4):c.486C>G (p.Ala162=) rs1595110441
NM_000075.4(CDK4):c.487_488delinsGC (p.Arg163Ala)
NM_000075.4(CDK4):c.48C>G (p.Ala16=) rs1311074831
NM_000075.4(CDK4):c.491T>C (p.Ile164Thr) rs1222529576
NM_000075.4(CDK4):c.494A>G (p.Tyr165Cys)
NM_000075.4(CDK4):c.497G>C (p.Ser166Thr) rs876660536
NM_000075.4(CDK4):c.49T>C (p.Tyr17His) rs1555201383
NM_000075.4(CDK4):c.4G>A (p.Ala2Thr) rs1483991096
NM_000075.4(CDK4):c.501C>T (p.Tyr167=) rs1316207187
NM_000075.4(CDK4):c.504G>A (p.Gln168=) rs770086242
NM_000075.4(CDK4):c.504G>C (p.Gln168His) rs770086242
NM_000075.4(CDK4):c.513T>C (p.Leu171=) rs748319770
NM_000075.4(CDK4):c.519C>T (p.Pro173=) rs747084709
NM_000075.4(CDK4):c.520G>A (p.Val174Met) rs780052789
NM_000075.4(CDK4):c.522+7A>G rs1294665075
NM_000075.4(CDK4):c.522+8G>A rs758294834
NM_000075.4(CDK4):c.523-10T>C rs1060504384
NM_000075.4(CDK4):c.523-4T>A rs587780667
NM_000075.4(CDK4):c.523-7C>T
NM_000075.4(CDK4):c.523G>A (p.Val175Ile) rs587778186
NM_000075.4(CDK4):c.532C>T (p.Leu178Phe) rs1030964946
NM_000075.4(CDK4):c.534C>G (p.Leu178=) rs11547327
NM_000075.4(CDK4):c.534C>T (p.Leu178=) rs11547327
NM_000075.4(CDK4):c.541C>G (p.Arg181Gly) rs1595110257
NM_000075.4(CDK4):c.542G>A (p.Arg181Gln) rs772079285
NM_000075.4(CDK4):c.543A>C (p.Arg181=) rs745772539
NM_000075.4(CDK4):c.549C>G (p.Pro183=)
NM_000075.4(CDK4):c.549C>T (p.Pro183=) rs778696237
NM_000075.4(CDK4):c.549_567del (p.Glu184fs)
NM_000075.4(CDK4):c.550G>A (p.Glu184Lys) rs1595110227
NM_000075.4(CDK4):c.552A>G (p.Glu184=)
NM_000075.4(CDK4):c.553G>A (p.Val185Ile)
NM_000075.4(CDK4):c.55A>G (p.Thr19Ala)
NM_000075.4(CDK4):c.560T>G (p.Leu187Arg)
NM_000075.4(CDK4):c.561G>T (p.Leu187=) rs864622342
NM_000075.4(CDK4):c.567C>T (p.Ser189=) rs144422354
NM_000075.4(CDK4):c.571T>A (p.Tyr191Asn)
NM_000075.4(CDK4):c.571T>C (p.Tyr191His)
NM_000075.4(CDK4):c.572A>G (p.Tyr191Cys)
NM_000075.4(CDK4):c.573T>C (p.Tyr191=) rs878853623
NM_000075.4(CDK4):c.578C>T (p.Thr193Ile)
NM_000075.4(CDK4):c.580C>T (p.Pro194Ser) rs1264069202
NM_000075.4(CDK4):c.581C>A (p.Pro194His)
NM_000075.4(CDK4):c.581C>T (p.Pro194Leu) rs1198423952
NM_000075.4(CDK4):c.583G>A (p.Val195Met)
NM_000075.4(CDK4):c.588C>T (p.Asp196=)
NM_000075.4(CDK4):c.590T>C (p.Met197Thr)
NM_000075.4(CDK4):c.597T>C (p.Ser199=) rs1260582581
NM_000075.4(CDK4):c.599T>C (p.Val200Ala) rs1060501929
NM_000075.4(CDK4):c.600T>G (p.Val200=)
NM_000075.4(CDK4):c.603C>G (p.Gly201=)
NM_000075.4(CDK4):c.605G>C (p.Cys202Ser) rs1424791303
NM_000075.4(CDK4):c.609C>A (p.Ile203=) rs864622504
NM_000075.4(CDK4):c.60G>A (p.Val20=) rs1595111186
NM_000075.4(CDK4):c.610T>A (p.Phe204Ile)
NM_000075.4(CDK4):c.612T>C (p.Phe204=) rs1555201266
NM_000075.4(CDK4):c.613G>A (p.Ala205Thr) rs368013594
NM_000075.4(CDK4):c.620T>A (p.Met207Lys)
NM_000075.4(CDK4):c.620T>C (p.Met207Thr)
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) rs140644696
NM_000075.4(CDK4):c.626G>A (p.Arg209His) rs754423955
NM_000075.4(CDK4):c.628C>T (p.Arg210Ter) rs1595110146
NM_000075.4(CDK4):c.629G>A (p.Arg210Gln) rs373619077
NM_000075.4(CDK4):c.629G>C (p.Arg210Pro) rs373619077
NM_000075.4(CDK4):c.629G>T (p.Arg210Leu)
NM_000075.4(CDK4):c.630A>C (p.Arg210=)
NM_000075.4(CDK4):c.630A>G (p.Arg210=)
NM_000075.4(CDK4):c.632+10C>G rs1367377055
NM_000075.4(CDK4):c.632+6G>A
NM_000075.4(CDK4):c.632+7G>A
NM_000075.4(CDK4):c.632+8A>G
NM_000075.4(CDK4):c.632+9C>T rs1192976748
NM_000075.4(CDK4):c.6T>A (p.Ala2=) rs1057523632
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000075.4(CDK4):c.84T>C (p.Ser28=) rs763203404
NM_000075.4(CDK4):c.87C>T (p.Gly29=)
NM_000075.4(CDK4):c.88C>T (p.His30Tyr) rs750707985
NM_000075.4(CDK4):c.96G>C (p.Val32=) rs563392051

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