ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 170
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000075.4(CDK4):c.696G>A (p.Leu232=) rs2227953 0.00692
NM_000075.4(CDK4):c.764G>A (p.Arg255His) rs144657355 0.00037
NM_005981.5(TSPAN31):c.*2031T>A rs370609910 0.00016
NM_000075.4(CDK4):c.771G>A (p.Val257=) rs377612647 0.00014
NM_000075.4(CDK4):c.779T>A (p.Val260Glu) rs200215596 0.00013
NM_000075.4(CDK4):c.834T>C (p.Phe278=) rs115576923 0.00013
NM_000075.4(CDK4):c.813G>A (p.Leu271=) rs1487727732 0.00011
NM_000075.4(CDK4):c.752C>A (p.Pro251His) rs143670820 0.00009
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 0.00006
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.753C>G (p.Pro251=) rs757333818 0.00003
NM_000075.4(CDK4):c.870G>C (p.Leu290=) rs1299338481 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.906G>A (p.Pro302=) rs375309124 0.00002
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.681T>G (p.Phe227Leu) rs1193246679 0.00001
NM_000075.4(CDK4):c.689T>C (p.Ile230Thr) rs760435132 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.737G>A (p.Arg246His) rs372604524 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.795G>A (p.Glu265=) rs747521511 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.829A>G (p.Thr277Ala) rs767343306 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.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_005981.5(TSPAN31):c.*1888G>A rs1060501928 0.00001
NM_005981.5(TSPAN31):c.*2032G>A rs765361338 0.00001
NM_000075.4(CDK4):c.634C>T (p.Pro212Ser)
NM_000075.4(CDK4):c.635C>A (p.Pro212His)
NM_000075.4(CDK4):c.637C>G (p.Leu213Val)
NM_000075.4(CDK4):c.642C>T (p.Phe214=)
NM_000075.4(CDK4):c.643T>A (p.Cys215Ser) rs1595109029
NM_000075.4(CDK4):c.644G>C (p.Cys215Ser) rs1955206509
NM_000075.4(CDK4):c.651C>T (p.Asn217=) rs876659462
NM_000075.4(CDK4):c.653_654del (p.Asn217_Ser218insTer)
NM_000075.4(CDK4):c.659C>G (p.Ala220Gly) rs1555201127
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.672C>G (p.Gly224=) rs761821146
NM_000075.4(CDK4):c.676A>C (p.Ile226Leu)
NM_000075.4(CDK4):c.676A>G (p.Ile226Val)
NM_000075.4(CDK4):c.681T>A (p.Phe227Leu)
NM_000075.4(CDK4):c.681T>C (p.Phe227=) rs1193246679
NM_000075.4(CDK4):c.684-1G>A
NM_000075.4(CDK4):c.687G>C (p.Leu229=)
NM_000075.4(CDK4):c.690T>C (p.Ile230=) rs886049714
NM_000075.4(CDK4):c.694C>T (p.Leu232=) rs2140383137
NM_000075.4(CDK4):c.694_706dup (p.Asp236fs)
NM_000075.4(CDK4):c.700C>G (p.Pro234Ala) rs1474793589
NM_000075.4(CDK4):c.701C>G (p.Pro234Arg)
NM_000075.4(CDK4):c.701C>T (p.Pro234Leu) rs771702415
NM_000075.4(CDK4):c.705G>A (p.Glu235=) rs374223296
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.721G>C (p.Asp241His) rs755502728
NM_000075.4(CDK4):c.723T>G (p.Asp241Glu) rs1595108790
NM_000075.4(CDK4):c.724G>A (p.Val242Ile) rs876658903
NM_000075.4(CDK4):c.725T>C (p.Val242Ala) rs747362286
NM_000075.4(CDK4):c.727T>C (p.Ser243Pro)
NM_000075.4(CDK4):c.728C>A (p.Ser243Tyr) rs876660217
NM_000075.4(CDK4):c.731T>A (p.Leu244Gln)
NM_000075.4(CDK4):c.734C>A (p.Pro245His)
NM_000075.4(CDK4):c.735C>T (p.Pro245=)
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)
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)
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)
NM_000075.4(CDK4):c.750C>A (p.Pro250=)
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)
NM_000075.4(CDK4):c.753dup (p.Arg252fs) rs754187815
NM_000075.4(CDK4):c.754A>G (p.Arg252Gly)
NM_000075.4(CDK4):c.757G>A (p.Gly253Arg)
NM_000075.4(CDK4):c.757G>C (p.Gly253Arg) rs1955201304
NM_000075.4(CDK4):c.759G>C (p.Gly253=)
NM_000075.4(CDK4):c.760C>A (p.Pro254Thr)
NM_000075.4(CDK4):c.760C>T (p.Pro254Ser) 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.767C>T (p.Pro256Leu) rs1234167326
NM_000075.4(CDK4):c.770T>A (p.Val257Glu) rs1955200973
NM_000075.4(CDK4):c.774G>T (p.Gln258His)
NM_000075.4(CDK4):c.776C>G (p.Ser259Trp)
NM_000075.4(CDK4):c.777G>C (p.Ser259=) rs3211622
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=)
NM_000075.4(CDK4):c.786T>G (p.Pro262=)
NM_000075.4(CDK4):c.790A>G (p.Met264Val) rs1955200152
NM_000075.4(CDK4):c.793G>A (p.Glu265Lys) rs769226197
NM_000075.4(CDK4):c.796G>C (p.Glu266Gln) rs1193086731
NM_000075.4(CDK4):c.797A>G (p.Glu266Gly)
NM_000075.4(CDK4):c.805G>A (p.Ala269Thr) rs786202902
NM_000075.4(CDK4):c.817C>G (p.Leu273Val)
NM_000075.4(CDK4):c.819G>T (p.Leu273=)
NM_000075.4(CDK4):c.821A>G (p.Glu274Gly) rs1565805274
NM_000075.4(CDK4):c.822A>G (p.Glu274=)
NM_000075.4(CDK4):c.823A>T (p.Met275Leu) rs587781723
NM_000075.4(CDK4):c.824T>C (p.Met275Thr)
NM_000075.4(CDK4):c.831T>C (p.Thr277=)
NM_000075.4(CDK4):c.834del (p.Phe278fs)
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.851T>C (p.Ile284Thr) rs751365131
NM_000075.4(CDK4):c.852C>A (p.Ile284=)
NM_000075.4(CDK4):c.856G>A (p.Ala286Thr)
NM_000075.4(CDK4):c.858C>T (p.Ala286=)
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)
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>T (p.Leu290=) rs1555201026
NM_000075.4(CDK4):c.870G>T (p.Leu290=) rs1299338481
NM_000075.4(CDK4):c.875A>G (p.His292Arg)
NM_000075.4(CDK4):c.876C>T (p.His292=) rs1595107737
NM_000075.4(CDK4):c.878C>G (p.Ser293Cys)
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)
NM_000075.4(CDK4):c.889A>G (p.Lys297Glu)
NM_000075.4(CDK4):c.897A>T (p.Glu299Asp) rs1595107685
NM_000075.4(CDK4):c.898_907del (p.Gly300fs)
NM_000075.4(CDK4):c.899G>C (p.Gly300Ala)
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)
NM_000075.4(CDK4):c.911G>T (p.Ter304Leu) rs1595107648
NM_005981.5(TSPAN31):c.*1887A>C
NM_005981.5(TSPAN31):c.*2031T>C rs370609910
NM_005981.5(TSPAN31):c.*2032G>C rs765361338
NM_005981.5(TSPAN31):c.*2217A>C

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.