ClinVar Miner

List of variants in gene combination CDK4, TSPAN31 reported by Quest Diagnostics Nichols Institute San Juan Capistrano

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Total variants: 24
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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.776C>T (p.Ser259Leu) rs201617914 0.00007
NM_000075.4(CDK4):c.863G>A (p.Arg288Gln) rs761577371 0.00004
NM_000075.4(CDK4):c.905C>T (p.Pro302Leu) rs749477862 0.00004
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.660C>T (p.Ala220=) rs773490152 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_005981.5(TSPAN31):c.*2037dup rs757684130 0.00001
NM_000075.4(CDK4):c.680T>C (p.Phe227Ser) rs1481057693
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.782T>C (p.Val261Ala) rs2140382749
NM_000075.4(CDK4):c.880dup (p.Tyr294fs) rs1302362629
NM_000075.4(CDK4):c.881A>G (p.Tyr294Cys) rs1565805206
NM_005981.5(TSPAN31):c.*1886del rs1217545832

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