ClinVar Miner

List of variants in gene CDK4 reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 259
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HGVS dbSNP gnomAD frequency
NM_000075.4(CDK4):c.254G>A (p.Arg85Gln) rs587778184 0.00003
NM_000075.4(CDK4):c.354+3G>C rs746395249 0.00003
NM_000075.4(CDK4):c.409G>A (p.Val137Ile) rs150281463 0.00003
NM_000075.4(CDK4):c.460G>C (p.Val154Leu) rs563692823 0.00003
NM_000075.4(CDK4):c.542G>A (p.Arg181Gln) rs772079285 0.00003
NM_000075.4(CDK4):c.229G>A (p.Val77Ile) rs730881670 0.00002
NM_000075.4(CDK4):c.310C>A (p.Leu104Met) rs759535768 0.00002
NM_000075.4(CDK4):c.364C>T (p.Arg122Cys) rs587778185 0.00002
NM_000075.4(CDK4):c.451G>A (p.Gly151Ser) rs1280774592 0.00002
NM_000075.4(CDK4):c.599T>C (p.Val200Ala) rs1060501929 0.00002
NM_000075.4(CDK4):c.109G>A (p.Val37Met) rs1060501930 0.00001
NM_000075.4(CDK4):c.116T>C (p.Val39Ala) rs1955238404 0.00001
NM_000075.4(CDK4):c.118C>T (p.Pro40Ser) rs761965434 0.00001
NM_000075.4(CDK4):c.14G>A (p.Arg5Gln) rs1031329993 0.00001
NM_000075.4(CDK4):c.245G>A (p.Arg82Gln) rs3211612 0.00001
NM_000075.4(CDK4):c.253C>T (p.Arg85Trp) rs759017803 0.00001
NM_000075.4(CDK4):c.263A>G (p.Lys88Arg) rs1463751654 0.00001
NM_000075.4(CDK4):c.269C>T (p.Thr90Ile) rs1955234447 0.00001
NM_000075.4(CDK4):c.343G>A (p.Glu115Lys) rs772938517 0.00001
NM_000075.4(CDK4):c.345A>C (p.Glu115Asp) rs769378936 0.00001
NM_000075.4(CDK4):c.346A>G (p.Thr116Ala) rs2063052002 0.00001
NM_000075.4(CDK4):c.347C>T (p.Thr116Met) rs1060501931 0.00001
NM_000075.4(CDK4):c.349A>G (p.Ile117Val) rs776343973 0.00001
NM_000075.4(CDK4):c.352A>C (p.Lys118Gln) rs772689692 0.00001
NM_000075.4(CDK4):c.355-3T>C rs771392563 0.00001
NM_000075.4(CDK4):c.355-4C>G rs1406247863 0.00001
NM_000075.4(CDK4):c.364C>G (p.Arg122Gly) rs587778185 0.00001
NM_000075.4(CDK4):c.377G>C (p.Arg126Thr) rs1401142797 0.00001
NM_000075.4(CDK4):c.385G>A (p.Asp129Asn) rs876660606 0.00001
NM_000075.4(CDK4):c.404G>A (p.Cys135Tyr) rs1340574386 0.00001
NM_000075.4(CDK4):c.415C>T (p.Arg139Ter) rs753579957 0.00001
NM_000075.4(CDK4):c.416G>A (p.Arg139Gln) rs763652580 0.00001
NM_000075.4(CDK4):c.421C>G (p.Leu141Val) rs1246306482 0.00001
NM_000075.4(CDK4):c.431A>G (p.Glu144Gly) rs863224603 0.00001
NM_000075.4(CDK4):c.458C>T (p.Thr153Ile) rs1443076952 0.00001
NM_000075.4(CDK4):c.461T>C (p.Val154Ala) rs1555201304 0.00001
NM_000075.4(CDK4):c.491T>C (p.Ile164Thr) rs1222529576 0.00001
NM_000075.4(CDK4):c.49T>C (p.Tyr17His) rs1555201383 0.00001
NM_000075.4(CDK4):c.520G>A (p.Val174Met) rs780052789 0.00001
NM_000075.4(CDK4):c.523G>A (p.Val175Ile) rs587778186 0.00001
NM_000075.4(CDK4):c.532C>T (p.Leu178Phe) rs1030964946 0.00001
NM_000075.4(CDK4):c.553G>A (p.Val185Ile) rs757302656 0.00001
NM_000075.4(CDK4):c.580C>T (p.Pro194Ser) rs1264069202 0.00001
NM_000075.4(CDK4):c.605G>C (p.Cys202Ser) rs1424791303 0.00001
NM_000075.4(CDK4):c.620T>A (p.Met207Lys) rs1339920302 0.00001
NM_000075.4(CDK4):c.626G>A (p.Arg209His) rs754423955 0.00001
NM_000075.4(CDK4):c.629G>A (p.Arg210Gln) rs373619077 0.00001
NM_000075.4(CDK4):c.632+6G>A rs762362960 0.00001
NC_000012.11:g.(?_58142308)_(58142410_?)del
NC_000012.11:g.(?_58142308)_(58145500_?)del
NC_000012.11:g.(?_58142945)_(58145500_?)dup
NC_000012.11:g.(?_58144696)_(58145500_?)dup
NC_000012.12:g.(?_57748525)_(57751717_?)dup
NC_000012.12:g.(?_57750646)_(57751717_?)dup
NM_000075.4(CDK4):c.104A>G (p.Lys35Arg) rs2140388477
NM_000075.4(CDK4):c.104del (p.Lys35fs) rs2140388479
NM_000075.4(CDK4):c.107G>A (p.Ser36Asn) rs1955238564
NM_000075.4(CDK4):c.107G>C (p.Ser36Thr) rs1955238564
NM_000075.4(CDK4):c.11C>A (p.Ser4Tyr) rs1227101024
NM_000075.4(CDK4):c.11C>G (p.Ser4Cys) rs1227101024
NM_000075.4(CDK4):c.11C>T (p.Ser4Phe) rs1227101024
NM_000075.4(CDK4):c.13C>G (p.Arg5Gly) rs1595111256
NM_000075.4(CDK4):c.13C>T (p.Arg5Ter) rs1595111256
NM_000075.4(CDK4):c.16T>C (p.Tyr6His) rs2140388780
NM_000075.4(CDK4):c.19G>A (p.Glu7Lys) rs1000052939
NM_000075.4(CDK4):c.219-10C>G rs759302811
NM_000075.4(CDK4):c.219G>C (p.Arg73=) rs2140387615
NM_000075.4(CDK4):c.220C>A (p.Leu74Met) rs2140387611
NM_000075.4(CDK4):c.222_223delinsCT (p.Met75Leu) rs1955235130
NM_000075.4(CDK4):c.223A>C (p.Met75Leu) rs1343218987
NM_000075.4(CDK4):c.223A>G (p.Met75Val) rs1343218987
NM_000075.4(CDK4):c.223_230dup (p.Cys78fs) rs2140387576
NM_000075.4(CDK4):c.224T>C (p.Met75Thr) rs748983604
NM_000075.4(CDK4):c.224T>G (p.Met75Arg) rs748983604
NM_000075.4(CDK4):c.228C>G (p.Asp76Glu) rs772531745
NM_000075.4(CDK4):c.235G>A (p.Ala79Thr) rs1555201333
NM_000075.4(CDK4):c.235G>C (p.Ala79Pro) rs1555201333
NM_000075.4(CDK4):c.241T>A (p.Ser81Thr) rs2140387533
NM_000075.4(CDK4):c.244C>G (p.Arg82Gly) rs1398120196
NM_000075.4(CDK4):c.244C>T (p.Arg82Ter)
NM_000075.4(CDK4):c.245G>C (p.Arg82Pro) rs3211612
NM_000075.4(CDK4):c.245G>T (p.Arg82Leu) rs3211612
NM_000075.4(CDK4):c.248C>A (p.Thr83Asn) rs1595110800
NM_000075.4(CDK4):c.251A>T (p.Asp84Val) rs2140387504
NM_000075.4(CDK4):c.253C>G (p.Arg85Gly) rs759017803
NM_000075.4(CDK4):c.253_256dup (p.Glu86fs) rs2140387483
NM_000075.4(CDK4):c.254G>T (p.Arg85Leu)
NM_000075.4(CDK4):c.257A>T (p.Glu86Val) rs1955234642
NM_000075.4(CDK4):c.265G>A (p.Val89Ile) rs1190779336
NM_000075.4(CDK4):c.279T>G (p.Phe93Leu) rs1478574297
NM_000075.4(CDK4):c.280G>A (p.Glu94Lys)
NM_000075.4(CDK4):c.283C>T (p.His95Tyr) rs2140387390
NM_000075.4(CDK4):c.284A>T (p.His95Leu) rs2140387389
NM_000075.4(CDK4):c.287T>C (p.Val96Ala) rs1955234241
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) rs1955239777
NM_000075.4(CDK4):c.291C>A (p.Asp97Glu) rs1595110740
NM_000075.4(CDK4):c.292C>T (p.Gln98Ter) rs2140387363
NM_000075.4(CDK4):c.295G>A (p.Asp99Asn) rs1955234069
NM_000075.4(CDK4):c.301A>G (p.Arg101Gly)
NM_000075.4(CDK4):c.302G>A (p.Arg101Lys) rs2540902401
NM_000075.4(CDK4):c.304A>G (p.Thr102Ala) rs2140387336
NM_000075.4(CDK4):c.306_322del (p.Tyr103fs) rs1955233713
NM_000075.4(CDK4):c.307dup (p.Tyr103fs) rs1955233961
NM_000075.4(CDK4):c.308A>C (p.Tyr103Ser) rs2140387323
NM_000075.4(CDK4):c.310C>G (p.Leu104Val) rs759535768
NM_000075.4(CDK4):c.311T>A (p.Leu104Gln) rs2140387316
NM_000075.4(CDK4):c.314A>G (p.Asp105Gly) rs2540902346
NM_000075.4(CDK4):c.315C>A (p.Asp105Glu) rs1158206003
NM_000075.4(CDK4):c.315C>G (p.Asp105Glu) rs1158206003
NM_000075.4(CDK4):c.317A>G (p.Lys106Arg) rs1955233800
NM_000075.4(CDK4):c.318G>T (p.Lys106Asn) rs2140387295
NM_000075.4(CDK4):c.319G>A (p.Ala107Thr) rs1955233778
NM_000075.4(CDK4):c.31G>T (p.Glu11Ter) rs2140388732
NM_000075.4(CDK4):c.320C>T (p.Ala107Val) rs1955233758
NM_000075.4(CDK4):c.323C>A (p.Pro108His) rs1595110706
NM_000075.4(CDK4):c.325C>G (p.Pro109Ala) rs1345420183
NM_000075.4(CDK4):c.325C>T (p.Pro109Ser) rs1345420183
NM_000075.4(CDK4):c.328C>T (p.Pro110Ser) rs2540902296
NM_000075.4(CDK4):c.329C>G (p.Pro110Arg) rs1955233459
NM_000075.4(CDK4):c.331G>A (p.Gly111Ser) rs1277385976
NM_000075.4(CDK4):c.332G>A (p.Gly111Asp) rs766166813
NM_000075.4(CDK4):c.338C>A (p.Pro113Gln) rs1955233297
NM_000075.4(CDK4):c.340G>A (p.Ala114Thr) rs1955233266
NM_000075.4(CDK4):c.340G>C (p.Ala114Pro) rs1955233266
NM_000075.4(CDK4):c.343G>C (p.Glu115Gln) rs772938517
NM_000075.4(CDK4):c.343G>T (p.Glu115Ter) rs772938517
NM_000075.4(CDK4):c.344A>C (p.Glu115Ala) rs1955233133
NM_000075.4(CDK4):c.344A>G (p.Glu115Gly)
NM_000075.4(CDK4):c.347_348delinsGA (p.Thr116Arg) rs2540902217
NM_000075.4(CDK4):c.354+3G>A rs746395249
NM_000075.4(CDK4):c.354+5G>A rs2140387171
NM_000075.4(CDK4):c.354+5G>T rs2140387171
NM_000075.4(CDK4):c.354+6T>A rs1955232809
NM_000075.4(CDK4):c.355G>C (p.Asp119His) rs2140386821
NM_000075.4(CDK4):c.356A>C (p.Asp119Ala) rs1236598333
NM_000075.4(CDK4):c.358C>A (p.Leu120Met) rs2140386814
NM_000075.4(CDK4):c.359T>A (p.Leu120Gln) rs1955231423
NM_000075.4(CDK4):c.35T>C (p.Ile12Thr) rs2140388721
NM_000075.4(CDK4):c.363G>A (p.Met121Ile) rs749635480
NM_000075.4(CDK4):c.363G>C (p.Met121Ile) rs749635480
NM_000075.4(CDK4):c.367C>T (p.Gln123Ter) rs1565806579
NM_000075.4(CDK4):c.369G>T (p.Gln123His) rs1955231243
NM_000075.4(CDK4):c.36del (p.Ile12fs) rs2140388718
NM_000075.4(CDK4):c.370T>C (p.Phe124Leu) rs1955231212
NM_000075.4(CDK4):c.371T>C (p.Phe124Ser) rs2140386772
NM_000075.4(CDK4):c.376A>G (p.Arg126Gly) rs1565806573
NM_000075.4(CDK4):c.38G>A (p.Gly13Asp) rs753152604
NM_000075.4(CDK4):c.38G>T (p.Gly13Val) rs753152604
NM_000075.4(CDK4):c.392T>G (p.Leu131Arg) rs1955230904
NM_000075.4(CDK4):c.397G>A (p.Ala133Thr) rs751684879
NM_000075.4(CDK4):c.401A>G (p.Asn134Ser) rs1595110530
NM_000075.4(CDK4):c.406A>G (p.Ile136Val) rs2140386656
NM_000075.4(CDK4):c.408C>G (p.Ile136Met) rs758331285
NM_000075.4(CDK4):c.409G>C (p.Val137Leu) rs150281463
NM_000075.4(CDK4):c.40G>T (p.Val14Phe)
NM_000075.4(CDK4):c.415C>G (p.Arg139Gly) rs753579957
NM_000075.4(CDK4):c.41T>C (p.Val14Ala) rs2140388699
NM_000075.4(CDK4):c.42_45del (p.Gly15fs) rs2140388683
NM_000075.4(CDK4):c.430G>A (p.Glu144Lys) rs2140386565
NM_000075.4(CDK4):c.430G>C (p.Glu144Gln) rs2140386565
NM_000075.4(CDK4):c.43G>A (p.Gly15Ser) rs1355460580
NM_000075.4(CDK4):c.43G>C (p.Gly15Arg) rs1355460580
NM_000075.4(CDK4):c.442G>T (p.Val148Leu) rs1595110489
NM_000075.4(CDK4):c.445A>G (p.Thr149Ala) rs2140386508
NM_000075.4(CDK4):c.448A>G (p.Ser150Gly) rs532565712
NM_000075.4(CDK4):c.44G>T (p.Gly15Val) rs2140388684
NM_000075.4(CDK4):c.452G>A (p.Gly151Asp) rs1595110472
NM_000075.4(CDK4):c.457A>T (p.Thr153Ser) rs2140386477
NM_000075.4(CDK4):c.458C>G (p.Thr153Arg) rs1443076952
NM_000075.4(CDK4):c.474C>G (p.Asp158Glu) rs2140386416
NM_000075.4(CDK4):c.477del (p.Phe159fs) rs786203016
NM_000075.4(CDK4):c.481C>G (p.Leu161Val) rs796860515
NM_000075.4(CDK4):c.484G>A (p.Ala162Thr) rs1555201301
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.487_488delinsGC (p.Arg163Ala) rs1955229482
NM_000075.4(CDK4):c.491T>G (p.Ile164Ser) rs1222529576
NM_000075.4(CDK4):c.494A>C (p.Tyr165Ser)
NM_000075.4(CDK4):c.494A>G (p.Tyr165Cys) rs1955229396
NM_000075.4(CDK4):c.496A>G (p.Ser166Gly) rs1487656600
NM_000075.4(CDK4):c.497G>C (p.Ser166Thr) rs876660536
NM_000075.4(CDK4):c.4G>A (p.Ala2Thr) rs1483991096
NM_000075.4(CDK4):c.500A>G (p.Tyr167Cys) rs2140386343
NM_000075.4(CDK4):c.502C>T (p.Gln168Ter) rs1555201299
NM_000075.4(CDK4):c.503A>G (p.Gln168Arg)
NM_000075.4(CDK4):c.504G>C (p.Gln168His) rs770086242
NM_000075.4(CDK4):c.505A>G (p.Met169Val) rs2140386329
NM_000075.4(CDK4):c.50A>G (p.Tyr17Cys) rs781527596
NM_000075.4(CDK4):c.515C>G (p.Thr172Arg) rs2140386305
NM_000075.4(CDK4):c.517C>A (p.Pro173Thr) rs768904034
NM_000075.4(CDK4):c.519C>G (p.Pro173=) rs747084709
NM_000075.4(CDK4):c.51T>A (p.Tyr17Ter) rs2140388654
NM_000075.4(CDK4):c.522+13A>T
NM_000075.4(CDK4):c.523-37_523-17del
NM_000075.4(CDK4):c.524T>C (p.Val175Ala) rs2140385900
NM_000075.4(CDK4):c.527T>C (p.Val176Ala) rs2140385892
NM_000075.4(CDK4):c.529A>G (p.Thr177Ala) rs1555201280
NM_000075.4(CDK4):c.530C>A (p.Thr177Lys) rs2140385882
NM_000075.4(CDK4):c.530C>T (p.Thr177Ile) rs2140385882
NM_000075.4(CDK4):c.535T>C (p.Trp179Arg) rs2140385871
NM_000075.4(CDK4):c.537G>C (p.Trp179Cys) rs2140385865
NM_000075.4(CDK4):c.541C>G (p.Arg181Gly) rs1595110257
NM_000075.4(CDK4):c.541C>T (p.Arg181Ter) rs1595110257
NM_000075.4(CDK4):c.542G>C (p.Arg181Pro) rs772079285
NM_000075.4(CDK4):c.544G>T (p.Ala182Ser) rs2140385841
NM_000075.4(CDK4):c.549_567del (p.Glu184fs) rs1955226726
NM_000075.4(CDK4):c.550G>A (p.Glu184Lys) rs1595110227
NM_000075.4(CDK4):c.550G>T (p.Glu184Ter) rs1595110227
NM_000075.4(CDK4):c.555TCT[1] (p.Leu187del) rs2140385796
NM_000075.4(CDK4):c.556C>T (p.Leu186Phe) rs2140385807
NM_000075.4(CDK4):c.55A>G (p.Thr19Ala) rs1595111197
NM_000075.4(CDK4):c.560T>G (p.Leu187Arg) rs1955226839
NM_000075.4(CDK4):c.562C>A (p.Gln188Lys) rs1555201274
NM_000075.4(CDK4):c.562C>T (p.Gln188Ter)
NM_000075.4(CDK4):c.563A>G (p.Gln188Arg) rs2140385786
NM_000075.4(CDK4):c.565T>G (p.Ser189Ala)
NM_000075.4(CDK4):c.566C>A (p.Ser189Tyr) rs1955226753
NM_000075.4(CDK4):c.569C>T (p.Thr190Ile) rs2140385772
NM_000075.4(CDK4):c.571T>A (p.Tyr191Asn) rs1955226614
NM_000075.4(CDK4):c.571T>C (p.Tyr191His) rs1955226614
NM_000075.4(CDK4):c.572A>G (p.Tyr191Cys) rs1955226587
NM_000075.4(CDK4):c.575C>G (p.Ala192Gly) rs2140385751
NM_000075.4(CDK4):c.577A>T (p.Thr193Ser) rs543769986
NM_000075.4(CDK4):c.578C>T (p.Thr193Ile) rs1955226446
NM_000075.4(CDK4):c.580C>A (p.Pro194Thr) rs1264069202
NM_000075.4(CDK4):c.580C>G (p.Pro194Ala)
NM_000075.4(CDK4):c.581C>A (p.Pro194His) rs1198423952
NM_000075.4(CDK4):c.581C>T (p.Pro194Leu) rs1198423952
NM_000075.4(CDK4):c.583G>A (p.Val195Met) rs1955226317
NM_000075.4(CDK4):c.590T>C (p.Met197Thr) rs975342748
NM_000075.4(CDK4):c.592T>C (p.Trp198Arg) rs2140385699
NM_000075.4(CDK4):c.595A>C (p.Ser199Arg) rs2540900371
NM_000075.4(CDK4):c.598G>T (p.Val200Phe) rs2140385681
NM_000075.4(CDK4):c.599T>G (p.Val200Gly) rs1060501929
NM_000075.4(CDK4):c.59T>C (p.Val20Ala) rs755549181
NM_000075.4(CDK4):c.607A>G (p.Ile203Val) rs2140385652
NM_000075.4(CDK4):c.610T>A (p.Phe204Ile) rs1955226021
NM_000075.4(CDK4):c.611T>C (p.Phe204Ser) rs2140385647
NM_000075.4(CDK4):c.613G>A (p.Ala205Thr) rs368013594
NM_000075.4(CDK4):c.620T>C (p.Met207Thr) rs1339920302
NM_000075.4(CDK4):c.628C>T (p.Arg210Ter) rs1595110146
NM_000075.4(CDK4):c.629G>C (p.Arg210Pro) rs373619077
NM_000075.4(CDK4):c.629G>T (p.Arg210Leu) rs373619077
NM_000075.4(CDK4):c.631A>C (p.Lys211Gln) rs2540900247
NM_000075.4(CDK4):c.632+1_632+33del rs2540900136
NM_000075.4(CDK4):c.632+4T>A rs1397979744
NM_000075.4(CDK4):c.632+5G>A rs2140385570
NM_000075.4(CDK4):c.632+7G>T rs1955225535
NM_000075.4(CDK4):c.632A>C (p.Lys211Thr) rs765656720
NM_000075.4(CDK4):c.70C>G (p.Arg24Gly) rs11547328
NM_000075.4(CDK4):c.71G>C (p.Arg24Pro)
NM_000075.4(CDK4):c.76C>T (p.Pro26Ser)
NM_000075.4(CDK4):c.79C>T (p.His27Tyr)
NM_000075.4(CDK4):c.82A>G (p.Ser28Gly) rs2140388551
NM_000075.4(CDK4):c.88C>T (p.His30Tyr) rs750707985
NM_000075.4(CDK4):c.93T>G (p.Phe31Leu) rs1595111145
NM_000075.4(CDK4):c.98C>T (p.Ala33Val) rs2140388501

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