ClinVar Miner

List of variants in gene combination CDK4, TSPAN31 studied for Hereditary cancer-predisposing syndrome

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Total variants: 208
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HGVS dbSNP gnomAD frequency
NM_000075.4(CDK4):c.696G>A (p.Leu232=) rs2227953 0.00640
NM_000075.4(CDK4):c.764G>A (p.Arg255His) rs144657355 0.00038
NM_000075.4(CDK4):c.684-4A>T rs370609910 0.00016
NM_000075.4(CDK4):c.771G>A (p.Val257=) rs377612647 0.00013
NM_000075.4(CDK4):c.779T>A (p.Val260Glu) rs200215596 0.00012
NM_000075.4(CDK4):c.834T>C (p.Phe278=) rs115576923 0.00012
NM_000075.4(CDK4):c.813G>A (p.Leu271=) rs1487727732 0.00010
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.702A>C (p.Pro234=) rs368081942 0.00005
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.753C>G (p.Pro251=) rs757333818 0.00003
NM_000075.4(CDK4):c.870G>C (p.Leu290=) rs1299338481 0.00003
NM_000075.4(CDK4):c.906G>A (p.Pro302=) rs375309124 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.635C>A (p.Pro212His) rs1307245862 0.00001
NM_000075.4(CDK4):c.645T>C (p.Cys215=) rs751861614 0.00001
NM_000075.4(CDK4):c.654T>C (p.Ser218=) rs766518915 0.00001
NM_000075.4(CDK4):c.660C>T (p.Ala220=) rs773490152 0.00001
NM_000075.4(CDK4):c.663C>T (p.Asp221=) rs1205343806 0.00001
NM_000075.4(CDK4):c.681T>G (p.Phe227Leu) rs1193246679 0.00001
NM_000075.4(CDK4):c.684-5C>T rs765361338 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.705G>A (p.Glu235=) rs374223296 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.777G>A (p.Ser259=) rs3211622 0.00001
NM_000075.4(CDK4):c.778G>T (p.Val260Leu) rs876660340 0.00001
NM_000075.4(CDK4):c.798G>A (p.Glu266=) rs780522588 0.00001
NM_000075.4(CDK4):c.800C>T (p.Ser267Leu) rs1157646541 0.00001
NM_000075.4(CDK4):c.801G>A (p.Ser267=) rs201744062 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.843C>T (p.His281=) rs750061873 0.00001
NM_000075.4(CDK4):c.846G>A (p.Lys282=) rs1248502310 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.882T>C (p.Tyr294=) rs1307304019 0.00001
NM_000075.4(CDK4):c.892G>A (p.Asp298Asn) rs1367425262 0.00001
NM_000075.4(CDK4):c.633-3T>A
NM_000075.4(CDK4):c.633-3T>G rs1565805871
NM_000075.4(CDK4):c.634C>T (p.Pro212Ser) rs1955206702
NM_000075.4(CDK4):c.636T>A (p.Pro212=)
NM_000075.4(CDK4):c.637C>G (p.Leu213Val) rs2140383972
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>C (p.Cys215Ser) rs1955206509
NM_000075.4(CDK4):c.648A>T (p.Gly216=)
NM_000075.4(CDK4):c.651C>T (p.Asn217=) rs876659462
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.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.666G>A (p.Gln222=) rs1324120646
NM_000075.4(CDK4):c.667T>C (p.Leu223=) rs2140383860
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.672C>G (p.Gly224=) rs761821146
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.681T>A (p.Phe227Leu) rs1193246679
NM_000075.4(CDK4):c.681T>C (p.Phe227=) rs1193246679
NM_000075.4(CDK4):c.682G>C (p.Asp228His)
NM_000075.4(CDK4):c.684-1G>A rs2140383187
NM_000075.4(CDK4):c.684-4A>G rs370609910
NM_000075.4(CDK4):c.684-5C>G rs765361338
NM_000075.4(CDK4):c.684-5del rs2140383210
NM_000075.4(CDK4):c.687G>C (p.Leu229=) rs1188210870
NM_000075.4(CDK4):c.694C>T (p.Leu232=) rs2140383137
NM_000075.4(CDK4):c.694_706dup (p.Asp236fs) rs2540896304
NM_000075.4(CDK4):c.699dup (p.Pro234fs)
NM_000075.4(CDK4):c.700C>G (p.Pro234Ala) rs1474793589
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.718C>A (p.Arg240=) rs786203856
NM_000075.4(CDK4):c.718C>G (p.Arg240Gly) rs786203856
NM_000075.4(CDK4):c.719G>C (p.Arg240Pro) rs531817742
NM_000075.4(CDK4):c.720A>C (p.Arg240=) rs1439384781
NM_000075.4(CDK4):c.720A>G (p.Arg240=) rs1439384781
NM_000075.4(CDK4):c.721G>C (p.Asp241His) rs755502728
NM_000075.4(CDK4):c.721G>T (p.Asp241Tyr)
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.735C>T (p.Pro245=) rs2140382950
NM_000075.4(CDK4):c.736C>G (p.Arg246Gly) rs370258992
NM_000075.4(CDK4):c.738T>C (p.Arg246=) rs2140382933
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.741A>G (p.Gly247=) rs1595108773
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.744C>G (p.Ala248=) rs1595108768
NM_000075.4(CDK4):c.744C>T (p.Ala248=) rs1595108768
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>T (p.Pro250Ser) rs2140382889
NM_000075.4(CDK4):c.750C>A (p.Pro250=) rs2140382876
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.753C>A (p.Pro251=) rs757333818
NM_000075.4(CDK4):c.753C>T (p.Pro251=) rs757333818
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.759G>C (p.Gly253=) rs2140382832
NM_000075.4(CDK4):c.760C>A (p.Pro254Thr) rs587779896
NM_000075.4(CDK4):c.762C>T (p.Pro254=) rs753908111
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.770T>A (p.Val257Glu) rs1955200973
NM_000075.4(CDK4):c.774G>T (p.Gln258His) rs2540895914
NM_000075.4(CDK4):c.776C>G (p.Ser259Trp) rs201617914
NM_000075.4(CDK4):c.777G>C (p.Ser259=) rs3211622
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.782T>C (p.Val261Ala) rs2140382749
NM_000075.4(CDK4):c.783A>G (p.Val261=) rs748377822
NM_000075.4(CDK4):c.784C>A (p.Pro262Thr) rs1358878722
NM_000075.4(CDK4):c.786T>G (p.Pro262=) rs772654769
NM_000075.4(CDK4):c.790A>G (p.Met264Val) rs1955200152
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.793G>C (p.Glu265Gln)
NM_000075.4(CDK4):c.795G>A (p.Glu265=) rs747521511
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.801G>C (p.Ser267=) rs201744062
NM_000075.4(CDK4):c.805G>A (p.Ala269Thr) rs786202902
NM_000075.4(CDK4):c.808C>T (p.Gln270Ter)
NM_000075.4(CDK4):c.814C>A (p.Leu272Met)
NM_000075.4(CDK4):c.814C>T (p.Leu272=) rs2140382622
NM_000075.4(CDK4):c.817C>G (p.Leu273Val) rs2140382614
NM_000075.4(CDK4):c.819+5T>G rs2140382575
NM_000075.4(CDK4):c.819G>T (p.Leu273=) rs2140382604
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>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.831T>C (p.Thr277=) rs2540893159
NM_000075.4(CDK4):c.834T>G (p.Phe278Leu) rs115576923
NM_000075.4(CDK4):c.834del (p.Phe278fs) rs1955188005
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.848G>A (p.Arg283Gln) rs1595107806
NM_000075.4(CDK4):c.849A>G (p.Arg283=) rs1595107798
NM_000075.4(CDK4):c.850A>G (p.Ile284Val) rs730881671
NM_000075.4(CDK4):c.852C>A (p.Ile284=) rs2140381174
NM_000075.4(CDK4):c.854C>T (p.Ser285Phe)
NM_000075.4(CDK4):c.856G>A (p.Ala286Thr) rs1595107784
NM_000075.4(CDK4):c.857C>T (p.Ala286Val) rs2140381155
NM_000075.4(CDK4):c.858C>T (p.Ala286=) rs2140381151
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.868C>T (p.Leu290=) rs1555201026
NM_000075.4(CDK4):c.869del (p.Leu290fs)
NM_000075.4(CDK4):c.870G>T (p.Leu290=) rs1299338481
NM_000075.4(CDK4):c.875A>G (p.His292Arg) rs2140381088
NM_000075.4(CDK4):c.876C>T (p.His292=) rs1595107737
NM_000075.4(CDK4):c.878C>G (p.Ser293Cys) rs2140381078
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.888T>G (p.His296Gln) rs1955186809
NM_000075.4(CDK4):c.889A>G (p.Lys297Glu) rs2140381029
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.901A>C (p.Asn301His) rs876660404
NM_000075.4(CDK4):c.902A>G (p.Asn301Ser) rs1955186510
NM_000075.4(CDK4):c.907G>C (p.Glu303Gln) rs1253318687
NM_000075.4(CDK4):c.911G>T (p.Ter304Leu) rs1595107648

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