ClinVar Miner

List of variants in gene combination CDK4, TSPAN31 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 248
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HGVS dbSNP gnomAD frequency
NM_000075.4(CDK4):c.*319G>A rs775370483 0.00077
NM_000075.4(CDK4):c.764G>A (p.Arg255His) rs144657355 0.00038
NM_000075.4(CDK4):c.*246G>T rs763088789 0.00034
NM_000075.4(CDK4):c.779T>A (p.Val260Glu) rs200215596 0.00012
NM_000075.4(CDK4):c.*690G>A rs886049708 0.00011
NM_000075.4(CDK4):c.752C>A (p.Pro251His) rs143670820 0.00008
NM_000075.4(CDK4):c.886C>T (p.His296Tyr) rs2227954 0.00008
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu) rs201617914 0.00007
NM_000075.4(CDK4):c.*734C>T rs1047001789 0.00006
NM_000075.4(CDK4):c.863G>A (p.Arg288Gln) rs761577371 0.00004
NM_000075.4(CDK4):c.898G>A (p.Gly300Ser) rs879254241 0.00004
NM_000075.4(CDK4):c.905C>T (p.Pro302Leu) rs749477862 0.00004
NM_000075.4(CDK4):c.736C>T (p.Arg246Cys) rs370258992 0.00003
NM_000075.4(CDK4):c.640T>C (p.Phe214Leu) rs1555201131 0.00002
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn) rs587778187 0.00002
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys) rs587778188 0.00002
NM_000075.4(CDK4):c.806C>T (p.Ala269Val) rs779161525 0.00002
NM_000075.4(CDK4):c.869T>C (p.Leu290Pro) rs768127244 0.00002
NM_000075.4(CDK4):c.896A>G (p.Glu299Gly) rs771234928 0.00002
NM_000075.4(CDK4):c.*271A>G rs1051806760 0.00001
NM_000075.4(CDK4):c.*333T>C rs199606572 0.00001
NM_000075.4(CDK4):c.*689C>T rs886049709 0.00001
NM_000075.4(CDK4):c.633-8C>T rs536249985 0.00001
NM_000075.4(CDK4):c.635C>A (p.Pro212His) rs1307245862 0.00001
NM_000075.4(CDK4):c.681T>G (p.Phe227Leu) rs1193246679 0.00001
NM_000075.4(CDK4):c.689T>C (p.Ile230Thr) rs760435132 0.00001
NM_000075.4(CDK4):c.690T>C (p.Ile230=) rs886049714 0.00001
NM_000075.4(CDK4):c.700C>T (p.Pro234Ser) rs1474793589 0.00001
NM_000075.4(CDK4):c.719G>A (p.Arg240Gln) rs531817742 0.00001
NM_000075.4(CDK4):c.723T>G (p.Asp241Glu) rs1595108790 0.00001
NM_000075.4(CDK4):c.724G>A (p.Val242Ile) rs876658903 0.00001
NM_000075.4(CDK4):c.737G>A (p.Arg246His) rs372604524 0.00001
NM_000075.4(CDK4):c.760C>T (p.Pro254Ser) rs587779896 0.00001
NM_000075.4(CDK4):c.778G>T (p.Val260Leu) rs876660340 0.00001
NM_000075.4(CDK4):c.800C>T (p.Ser267Leu) rs1157646541 0.00001
NM_000075.4(CDK4):c.819+4C>T rs1060501928 0.00001
NM_000075.4(CDK4):c.838C>T (p.Pro280Ser) rs1299577422 0.00001
NM_000075.4(CDK4):c.841C>G (p.His281Asp) rs876659522 0.00001
NM_000075.4(CDK4):c.841C>T (p.His281Tyr) rs876659522 0.00001
NM_000075.4(CDK4):c.847C>T (p.Arg283Ter) rs1423966179 0.00001
NM_000075.4(CDK4):c.851T>C (p.Ile284Thr) rs751365131 0.00001
NM_000075.4(CDK4):c.864A>T (p.Arg288=) rs1369349270 0.00001
NM_000075.4(CDK4):c.892G>A (p.Asp298Asn) rs1367425262 0.00001
NC_000012.11:g.(?_58140510)_(58145500_?)dup
NM_000075.4(CDK4):c.*2C>T rs2140380925
NM_000075.4(CDK4):c.*303del rs59185470
NM_000075.4(CDK4):c.*303dup rs59185470
NM_000075.4(CDK4):c.*424G>A rs926312287
NM_000075.4(CDK4):c.*479T>C rs886049710
NM_000075.4(CDK4):c.*5T>C rs786204045
NM_000075.4(CDK4):c.*760GT[1] rs886049707
NM_000075.4(CDK4):c.*777dup rs146863045
NM_000075.4(CDK4):c.633-10C>G rs1555201136
NM_000075.4(CDK4):c.633-3T>A
NM_000075.4(CDK4):c.633-3T>C rs1565805871
NM_000075.4(CDK4):c.633-3T>G rs1565805871
NM_000075.4(CDK4):c.633-5C>T rs2140384005
NM_000075.4(CDK4):c.633G>A (p.Lys211=)
NM_000075.4(CDK4):c.634C>G (p.Pro212Ala) rs1955206702
NM_000075.4(CDK4):c.634C>T (p.Pro212Ser) rs1955206702
NM_000075.4(CDK4):c.635C>T (p.Pro212Leu) rs1307245862
NM_000075.4(CDK4):c.637C>G (p.Leu213Val) rs2140383972
NM_000075.4(CDK4):c.642C>G (p.Phe214Leu) rs755091270
NM_000075.4(CDK4):c.642C>T (p.Phe214=) rs755091270
NM_000075.4(CDK4):c.643T>A (p.Cys215Ser) rs1595109029
NM_000075.4(CDK4):c.643T>C (p.Cys215Arg) rs1595109029
NM_000075.4(CDK4):c.644G>A (p.Cys215Tyr) rs1955206509
NM_000075.4(CDK4):c.644G>C (p.Cys215Ser) rs1955206509
NM_000075.4(CDK4):c.646G>A (p.Gly216Arg) rs1955206422
NM_000075.4(CDK4):c.647G>A (p.Gly216Glu) rs1955206366
NM_000075.4(CDK4):c.647G>C (p.Gly216Ala) rs1955206366
NM_000075.4(CDK4):c.647G>T (p.Gly216Val) rs1955206366
NM_000075.4(CDK4):c.652T>A (p.Ser218Thr) rs1955206277
NM_000075.4(CDK4):c.652T>C (p.Ser218Pro)
NM_000075.4(CDK4):c.653C>A (p.Ser218Tyr) rs1955206224
NM_000075.4(CDK4):c.653C>G (p.Ser218Cys) rs1955206224
NM_000075.4(CDK4):c.653C>T (p.Ser218Phe) rs1955206224
NM_000075.4(CDK4):c.653_654del (p.Asn217_Ser218insTer) rs2540897336
NM_000075.4(CDK4):c.659C>G (p.Ala220Gly) rs1555201127
NM_000075.4(CDK4):c.663C>G (p.Asp221Glu) rs1205343806
NM_000075.4(CDK4):c.664C>A (p.Gln222Lys) rs1955205842
NM_000075.4(CDK4):c.666G>C (p.Gln222His) rs1324120646
NM_000075.4(CDK4):c.670G>A (p.Gly224Ser) rs1555201123
NM_000075.4(CDK4):c.670G>C (p.Gly224Arg) rs1555201123
NM_000075.4(CDK4):c.671G>A (p.Gly224Asp)
NM_000075.4(CDK4):c.676A>C (p.Ile226Leu) rs2140383814
NM_000075.4(CDK4):c.676A>G (p.Ile226Val) rs2140383814
NM_000075.4(CDK4):c.676del (p.Ile226fs) rs2540897221
NM_000075.4(CDK4):c.680T>C (p.Phe227Ser) rs1481057693
NM_000075.4(CDK4):c.680_681del (p.Ile226_Phe227insTer) rs1251154173
NM_000075.4(CDK4):c.681T>A (p.Phe227Leu) rs1193246679
NM_000075.4(CDK4):c.682G>C (p.Asp228His)
NM_000075.4(CDK4):c.683+8A>T rs1446831422
NM_000075.4(CDK4):c.684-1G>A rs2140383187
NM_000075.4(CDK4):c.684-5C>G rs765361338
NM_000075.4(CDK4):c.684C>A (p.Asp228Glu) rs1555201112
NM_000075.4(CDK4):c.684C>G (p.Asp228Glu) rs1555201112
NM_000075.4(CDK4):c.694_706dup (p.Asp236fs) rs2540896304
NM_000075.4(CDK4):c.698C>T (p.Pro233Leu) rs1955202640
NM_000075.4(CDK4):c.699dup (p.Pro234fs)
NM_000075.4(CDK4):c.700C>A (p.Pro234Thr) rs1474793589
NM_000075.4(CDK4):c.700C>G (p.Pro234Ala) rs1474793589
NM_000075.4(CDK4):c.701C>A (p.Pro234Gln) rs771702415
NM_000075.4(CDK4):c.701C>G (p.Pro234Arg) rs771702415
NM_000075.4(CDK4):c.701C>T (p.Pro234Leu) rs771702415
NM_000075.4(CDK4):c.707A>G (p.Asp236Gly) rs1403703683
NM_000075.4(CDK4):c.710A>C (p.Asp237Ala) rs1555201108
NM_000075.4(CDK4):c.711C>G (p.Asp237Glu) rs2140383063
NM_000075.4(CDK4):c.716C>T (p.Pro239Leu) rs2140383035
NM_000075.4(CDK4):c.718C>G (p.Arg240Gly) rs786203856
NM_000075.4(CDK4):c.718C>T (p.Arg240Ter) rs786203856
NM_000075.4(CDK4):c.719G>C (p.Arg240Pro) rs531817742
NM_000075.4(CDK4):c.721G>C (p.Asp241His) rs755502728
NM_000075.4(CDK4):c.721G>T (p.Asp241Tyr)
NM_000075.4(CDK4):c.724G>T (p.Val242Leu) rs876658903
NM_000075.4(CDK4):c.725T>C (p.Val242Ala) rs747362286
NM_000075.4(CDK4):c.727T>C (p.Ser243Pro) rs2140382983
NM_000075.4(CDK4):c.728C>A (p.Ser243Tyr) rs876660217
NM_000075.4(CDK4):c.731T>A (p.Leu244Gln) rs2140382967
NM_000075.4(CDK4):c.734C>A (p.Pro245His) rs1955201842
NM_000075.4(CDK4):c.734C>T (p.Pro245Leu) rs1955201842
NM_000075.4(CDK4):c.736C>G (p.Arg246Gly) rs370258992
NM_000075.4(CDK4):c.736del (p.Arg246fs)
NM_000075.4(CDK4):c.737G>T (p.Arg246Leu)
NM_000075.4(CDK4):c.739G>A (p.Gly247Arg) rs1555201101
NM_000075.4(CDK4):c.740G>A (p.Gly247Glu) rs921450127
NM_000075.4(CDK4):c.741dup (p.Ala248fs) rs2140382922
NM_000075.4(CDK4):c.742G>A (p.Ala248Thr) rs2140382918
NM_000075.4(CDK4):c.743C>A (p.Ala248Asp) rs1595108770
NM_000075.4(CDK4):c.743C>G (p.Ala248Gly) rs1595108770
NM_000075.4(CDK4):c.743C>T (p.Ala248Val) rs1595108770
NM_000075.4(CDK4):c.747T>C (p.Phe249=) rs886049713
NM_000075.4(CDK4):c.748C>A (p.Pro250Thr) rs2140382889
NM_000075.4(CDK4):c.748C>G (p.Pro250Ala) rs2140382889
NM_000075.4(CDK4):c.748_749delinsTA (p.Pro250Tyr)
NM_000075.4(CDK4):c.749C>A (p.Pro250His) rs1955201479
NM_000075.4(CDK4):c.751C>T (p.Pro251Ser) rs2140382870
NM_000075.4(CDK4):c.752C>G (p.Pro251Arg) rs143670820
NM_000075.4(CDK4):c.752C>T (p.Pro251Leu) rs143670820
NM_000075.4(CDK4):c.753del (p.Arg252fs) rs754187815
NM_000075.4(CDK4):c.753dup (p.Arg252fs) rs754187815
NM_000075.4(CDK4):c.754A>G (p.Arg252Gly) rs2540896072
NM_000075.4(CDK4):c.757G>A (p.Gly253Arg) rs1955201304
NM_000075.4(CDK4):c.757G>C (p.Gly253Arg) rs1955201304
NM_000075.4(CDK4):c.758G>A (p.Gly253Glu) rs1955201268
NM_000075.4(CDK4):c.760C>A (p.Pro254Thr) rs587779896
NM_000075.4(CDK4):c.763C>A (p.Arg255Ser) rs587778188
NM_000075.4(CDK4):c.766C>A (p.Pro256Thr) rs2140382800
NM_000075.4(CDK4):c.767C>T (p.Pro256Leu) rs1234167326
NM_000075.4(CDK4):c.769G>A (p.Val257Met) rs2140382790
NM_000075.4(CDK4):c.770T>A (p.Val257Glu) rs1955200973
NM_000075.4(CDK4):c.774G>T (p.Gln258His) rs2540895914
NM_000075.4(CDK4):c.775T>C (p.Ser259Pro) rs2140382779
NM_000075.4(CDK4):c.776C>G (p.Ser259Trp) rs201617914
NM_000075.4(CDK4):c.778del (p.Val260fs)
NM_000075.4(CDK4):c.779T>C (p.Val260Ala) rs200215596
NM_000075.4(CDK4):c.780G>A (p.Val260=) rs1955200396
NM_000075.4(CDK4):c.781G>T (p.Val261Leu) rs2140382752
NM_000075.4(CDK4):c.782T>C (p.Val261Ala) rs2140382749
NM_000075.4(CDK4):c.784C>A (p.Pro262Thr) rs1358878722
NM_000075.4(CDK4):c.784C>T (p.Pro262Ser) rs1358878722
NM_000075.4(CDK4):c.787G>A (p.Glu263Lys) rs2140382724
NM_000075.4(CDK4):c.790A>G (p.Met264Val) rs1955200152
NM_000075.4(CDK4):c.790_795del (p.Met264_Glu265del) rs1595108668
NM_000075.4(CDK4):c.792G>A (p.Met264Ile) rs1955200108
NM_000075.4(CDK4):c.793G>A (p.Glu265Lys) rs769226197
NM_000075.4(CDK4):c.795G>C (p.Glu265Asp) rs747521511
NM_000075.4(CDK4):c.796G>A (p.Glu266Lys) rs1193086731
NM_000075.4(CDK4):c.796G>C (p.Glu266Gln) rs1193086731
NM_000075.4(CDK4):c.797A>G (p.Glu266Gly) rs2540895751
NM_000075.4(CDK4):c.799T>G (p.Ser267Ala) rs2140382678
NM_000075.4(CDK4):c.802G>A (p.Gly268Arg) rs2140382669
NM_000075.4(CDK4):c.803G>A (p.Gly268Glu)
NM_000075.4(CDK4):c.805G>A (p.Ala269Thr) rs786202902
NM_000075.4(CDK4):c.805G>T (p.Ala269Ser) rs786202902
NM_000075.4(CDK4):c.808C>T (p.Gln270Ter)
NM_000075.4(CDK4):c.812T>C (p.Leu271Pro)
NM_000075.4(CDK4):c.814C>A (p.Leu272Met)
NM_000075.4(CDK4):c.817C>G (p.Leu273Val) rs2140382614
NM_000075.4(CDK4):c.819+19G>A rs2140382514
NM_000075.4(CDK4):c.819+5T>G rs2140382575
NM_000075.4(CDK4):c.819+6G>A
NM_000075.4(CDK4):c.819+7del rs1217545832
NM_000075.4(CDK4):c.819G>T (p.Leu273=) rs2140382604
NM_000075.4(CDK4):c.820G>C (p.Glu274Gln) rs2140381289
NM_000075.4(CDK4):c.821A>G (p.Glu274Gly) rs1565805274
NM_000075.4(CDK4):c.822A>G (p.Glu274=) rs2140381286
NM_000075.4(CDK4):c.823A>C (p.Met275Leu) rs587781723
NM_000075.4(CDK4):c.823A>G (p.Met275Val)
NM_000075.4(CDK4):c.823A>T (p.Met275Leu) rs587781723
NM_000075.4(CDK4):c.824T>C (p.Met275Thr) rs2540893198
NM_000075.4(CDK4):c.829A>G (p.Thr277Ala) rs767343306
NM_000075.4(CDK4):c.833_834del (p.Thr277_Phe278insTer) rs1955188005
NM_000075.4(CDK4):c.833_834dup (p.Asn279fs) rs1955188005
NM_000075.4(CDK4):c.834T>G (p.Phe278Leu) rs115576923
NM_000075.4(CDK4):c.834del (p.Phe278fs) rs1955188005
NM_000075.4(CDK4):c.837C>G (p.Asn279Lys) rs2140381234
NM_000075.4(CDK4):c.839C>T (p.Pro280Leu) rs2140381227
NM_000075.4(CDK4):c.841C>A (p.His281Asn) rs876659522
NM_000075.4(CDK4):c.843C>G (p.His281Gln) rs750061873
NM_000075.4(CDK4):c.845A>C (p.Lys282Thr) rs2140381204
NM_000075.4(CDK4):c.845A>G (p.Lys282Arg) rs2140381204
NM_000075.4(CDK4):c.846G>C (p.Lys282Asn)
NM_000075.4(CDK4):c.848G>A (p.Arg283Gln) rs1595107806
NM_000075.4(CDK4):c.848G>C (p.Arg283Pro) rs1595107806
NM_000075.4(CDK4):c.850A>G (p.Ile284Val) rs730881671
NM_000075.4(CDK4):c.854C>T (p.Ser285Phe)
NM_000075.4(CDK4):c.856G>A (p.Ala286Thr) rs1595107784
NM_000075.4(CDK4):c.856G>T (p.Ala286Ser) rs1595107784
NM_000075.4(CDK4):c.857C>T (p.Ala286Val) rs2140381155
NM_000075.4(CDK4):c.860T>C (p.Phe287Ser)
NM_000075.4(CDK4):c.862C>G (p.Arg288Gly) rs587779897
NM_000075.4(CDK4):c.862C>T (p.Arg288Ter) rs587779897
NM_000075.4(CDK4):c.863G>C (p.Arg288Pro) rs761577371
NM_000075.4(CDK4):c.863G>T (p.Arg288Leu) rs761577371
NM_000075.4(CDK4):c.866del (p.Ala289fs) rs1595107751
NM_000075.4(CDK4):c.868C>A (p.Leu290Met) rs1555201026
NM_000075.4(CDK4):c.868C>G (p.Leu290Val) rs1555201026
NM_000075.4(CDK4):c.869del (p.Leu290fs)
NM_000075.4(CDK4):c.871dup (p.Gln291fs) rs1955187145
NM_000075.4(CDK4):c.872A>C (p.Gln291Pro) rs1955187106
NM_000075.4(CDK4):c.874C>A (p.His292Asn)
NM_000075.4(CDK4):c.875A>G (p.His292Arg) rs2140381088
NM_000075.4(CDK4):c.878C>G (p.Ser293Cys) rs2140381078
NM_000075.4(CDK4):c.880T>C (p.Tyr294His) rs2140381068
NM_000075.4(CDK4):c.880_884del (p.Tyr294fs) rs2140381054
NM_000075.4(CDK4):c.880dup (p.Tyr294fs) rs1302362629
NM_000075.4(CDK4):c.881A>G (p.Tyr294Cys) rs1565805206
NM_000075.4(CDK4):c.887A>G (p.His296Arg) rs786202648
NM_000075.4(CDK4):c.889A>G (p.Lys297Glu) rs2140381029
NM_000075.4(CDK4):c.889_903del (p.Lys297_Asn301del) rs2540892716
NM_000075.4(CDK4):c.890del (p.Lys297fs) rs2140381025
NM_000075.4(CDK4):c.893A>G (p.Asp298Gly)
NM_000075.4(CDK4):c.893A>T (p.Asp298Val) rs2140381014
NM_000075.4(CDK4):c.895G>A (p.Glu299Lys) rs1161260206
NM_000075.4(CDK4):c.897A>T (p.Glu299Asp) rs1595107685
NM_000075.4(CDK4):c.898_907del (p.Gly300fs) rs2540892681
NM_000075.4(CDK4):c.899G>C (p.Gly300Ala) rs2140380982
NM_000075.4(CDK4):c.899G>T (p.Gly300Val) rs2140380982
NM_000075.4(CDK4):c.901A>C (p.Asn301His) rs876660404
NM_000075.4(CDK4):c.902A>G (p.Asn301Ser) rs1955186510
NM_000075.4(CDK4):c.903T>A (p.Asn301Lys)
NM_000075.4(CDK4):c.904C>G (p.Pro302Ala) rs2140380962
NM_000075.4(CDK4):c.907G>A (p.Glu303Lys) rs1253318687
NM_000075.4(CDK4):c.907G>C (p.Glu303Gln) rs1253318687
NM_000075.4(CDK4):c.907G>T (p.Glu303Ter) rs1253318687
NM_000075.4(CDK4):c.910T>A (p.Ter304Arg) rs2140380940
NM_000075.4(CDK4):c.911G>T (p.Ter304Leu) rs1595107648

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