ClinVar Miner

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

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000075.4(CDK4):c.779T>A (p.Val260Glu) rs200215596 0.00012
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.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+4C>T rs1060501928 0.00001
NM_000075.4(CDK4):c.642C>T (p.Phe214=) rs755091270
NM_000075.4(CDK4):c.680T>C (p.Phe227Ser) rs1481057693
NM_000075.4(CDK4):c.736C>G (p.Arg246Gly) rs370258992
NM_000075.4(CDK4):c.737G>T (p.Arg246Leu)
NM_000075.4(CDK4):c.782T>C (p.Val261Ala) rs2140382749
NM_000075.4(CDK4):c.819+7del rs1217545832
NM_000075.4(CDK4):c.829A>G (p.Thr277Ala) rs767343306
NM_000075.4(CDK4):c.880dup (p.Tyr294fs) rs1302362629
NM_000075.4(CDK4):c.881A>G (p.Tyr294Cys) rs1565805206

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