ClinVar Miner

List of variants in gene combination CDK4, TSPAN31 studied for not provided

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_005981.5(TSPAN31):c.*1781C>A rs2069506 0.25021
NM_005981.5(TSPAN31):c.*1777A>G rs2069507 0.02320
NM_005981.5(TSPAN31):c.*2414A>T rs3211619 0.01284
NM_005981.5(TSPAN31):c.*2372T>C rs3211620 0.01221
NM_005981.5(TSPAN31):c.*1551G>C rs3211628 0.00693
NM_000075.4(CDK4):c.696G>A (p.Leu232=) rs2227953 0.00692
NM_005981.5(TSPAN31):c.*2429C>T rs73338241 0.00348
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.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.661G>A (p.Asp221Asn) rs587778187 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.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.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.829A>G (p.Thr277Ala) rs767343306 0.00001
NM_000075.4(CDK4):c.892G>A (p.Asp298Asn) rs1367425262 0.00001
NM_005981.5(TSPAN31):c.*1421T>C rs2069509 0.00001
NM_005981.5(TSPAN31):c.*2032G>A rs765361338 0.00001
NM_005981.5(TSPAN31):c.*2037dup rs757684130 0.00001
NM_000075.4(CDK4):c.680T>C (p.Phe227Ser) rs1481057693
NM_000075.4(CDK4):c.684C>G (p.Asp228Glu)
NM_000075.4(CDK4):c.705G>A (p.Glu235=) rs374223296
NM_000075.4(CDK4):c.719G>C (p.Arg240Pro) rs531817742
NM_000075.4(CDK4):c.724G>A (p.Val242Ile) rs876658903
NM_000075.4(CDK4):c.752C>G (p.Pro251Arg) rs143670820
NM_000075.4(CDK4):c.753C>A (p.Pro251=) rs757333818
NM_000075.4(CDK4):c.757G>C (p.Gly253Arg) rs1955201304
NM_000075.4(CDK4):c.760C>T (p.Pro254Ser) rs587779896
NM_000075.4(CDK4):c.782T>C (p.Val261Ala) rs2140382749
NM_000075.4(CDK4):c.823A>T (p.Met275Leu) rs587781723
NM_000075.4(CDK4):c.833_834del (p.Thr277_Phe278insTer)
NM_000075.4(CDK4):c.850A>G (p.Ile284Val) rs730881671
NM_000075.4(CDK4):c.862C>G (p.Arg288Gly) rs587779897
NM_000075.4(CDK4):c.868C>A (p.Leu290Met) rs1555201026
NM_000075.4(CDK4):c.880dup (p.Tyr294fs) rs1302362629
NM_000075.4(CDK4):c.881A>G (p.Tyr294Cys) rs1565805206
NM_005981.5(TSPAN31):c.*1414_*1415insCTT rs2140381594
NM_005981.5(TSPAN31):c.*1418_*1420dup rs145025938
NM_005981.5(TSPAN31):c.*1578G>C rs144984374
NM_005981.5(TSPAN31):c.*1658C>T rs3211626
NM_005981.5(TSPAN31):c.*1853CT[1] rs3211623
NM_005981.5(TSPAN31):c.*1886del rs1217545832

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