ClinVar Miner

List of variants in gene combination CDK4, TSPAN31 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000075.4(CDK4):c.819+111G>T rs2069506 0.26447
NM_000075.4(CDK4):c.819+115T>C rs2069507 0.02280
NM_000075.4(CDK4):c.633-200T>A rs3211619 0.01284
NM_000075.4(CDK4):c.633-158A>G rs3211620 0.01221
NM_000075.4(CDK4):c.819+234G>A rs3211626 0.00991
NM_000075.4(CDK4):c.820-224C>G rs3211628 0.00693
NM_000075.4(CDK4):c.696G>A (p.Leu232=) rs2227953 0.00640
NM_000075.4(CDK4):c.633-215G>A rs73338241 0.00327
NM_000075.4(CDK4):c.820-251C>G rs144984374 0.00041
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.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.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.736C>T (p.Arg246Cys) rs370258992 0.00003
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.660C>T (p.Ala220=) rs773490152 0.00001
NM_000075.4(CDK4):c.684-10dup rs757684130 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.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.724G>A (p.Val242Ile) rs876658903 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.800C>T (p.Ser267Leu) rs1157646541 0.00001
NM_000075.4(CDK4):c.819+11T>C rs188641164 0.00001
NM_000075.4(CDK4):c.820-94A>G rs2069509 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
NM_000075.4(CDK4):c.*12G>C rs770044583
NM_000075.4(CDK4):c.651C>T (p.Asn217=) rs876659462
NM_000075.4(CDK4):c.670G>A (p.Gly224Ser) rs1555201123
NM_000075.4(CDK4):c.683+8A>T rs1446831422
NM_000075.4(CDK4):c.684C>G (p.Asp228Glu) rs1555201112
NM_000075.4(CDK4):c.752C>G (p.Pro251Arg) rs143670820
NM_000075.4(CDK4):c.757G>C (p.Gly253Arg) rs1955201304
NM_000075.4(CDK4):c.762C>T (p.Pro254=) rs753908111
NM_000075.4(CDK4):c.809A>T (p.Gln270Leu)
NM_000075.4(CDK4):c.819+39_819+40del rs3211623
NM_000075.4(CDK4):c.820-86_820-85insAAG rs2140381594
NM_000075.4(CDK4):c.820-91_820-89dup rs145025938
NM_000075.4(CDK4):c.823A>T (p.Met275Leu) rs587781723
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.850A>G (p.Ile284Val) rs730881671
NM_000075.4(CDK4):c.856G>T (p.Ala286Ser) rs1595107784
NM_000075.4(CDK4):c.862C>G (p.Arg288Gly) rs587779897

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.