ClinVar Miner

List of variants in gene combination CDK4, TSPAN31 reported as uncertain significance for Hereditary cancer-predisposing syndrome

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Total variants: 111
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HGVS dbSNP gnomAD frequency
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.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.869T>C (p.Leu290Pro) rs768127244 0.00002
NM_000075.4(CDK4):c.896A>G (p.Glu299Gly) rs771234928 0.00002
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.778G>T (p.Val260Leu) rs876660340 0.00001
NM_000075.4(CDK4):c.800C>T (p.Ser267Leu) rs1157646541 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.847C>T (p.Arg283Ter) rs1423966179 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_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.643T>A (p.Cys215Ser) rs1595109029
NM_000075.4(CDK4):c.644G>C (p.Cys215Ser) rs1955206509
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.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.684-1G>A
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.718C>G (p.Arg240Gly) 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.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.736C>G (p.Arg246Gly) rs370258992
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.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.748C>A (p.Pro250Thr) rs2140382889
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)
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.760C>A (p.Pro254Thr)
NM_000075.4(CDK4):c.760C>T (p.Pro254Ser) rs587779896
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.780G>A (p.Val260=) rs1955200396
NM_000075.4(CDK4):c.782T>C (p.Val261Ala) rs2140382749
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.834del (p.Phe278fs)
NM_000075.4(CDK4):c.848G>A (p.Arg283Gln) rs1595107806
NM_000075.4(CDK4):c.851T>C (p.Ile284Thr) rs751365131
NM_000075.4(CDK4):c.856G>A (p.Ala286Thr)
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.875A>G (p.His292Arg)
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.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.*2032G>C rs765361338
NM_005981.5(TSPAN31):c.*2217A>C

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