ClinVar Miner

List of variants in gene combination CDK4, TSPAN31 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_005981.5(TSPAN31):c.*916C>T rs775370483 0.00077
NM_005981.5(TSPAN31):c.*989C>A rs763088789 0.00036
NM_005981.5(TSPAN31):c.*545C>T rs886049708 0.00011
NM_005981.5(TSPAN31):c.*501G>A rs1047001789 0.00006
NM_000075.4(CDK4):c.898G>A (p.Gly300Ser) rs879254241 0.00004
NM_005981.5(TSPAN31):c.*546G>A rs886049709 0.00001
NM_005981.5(TSPAN31):c.*902A>G rs199606572 0.00001
NM_005981.5(TSPAN31):c.*964T>C rs1051806760 0.00001
NM_000075.4(CDK4):c.690T>C (p.Ile230=) rs886049714
NM_000075.4(CDK4):c.747T>C (p.Phe249=) rs886049713
NM_005981.5(TSPAN31):c.*470dup rs146863045
NM_005981.5(TSPAN31):c.*473CA[1] rs886049707
NM_005981.5(TSPAN31):c.*756A>G rs886049710
NM_005981.5(TSPAN31):c.*811C>T rs926312287
NM_005981.5(TSPAN31):c.*945del rs59185470
NM_005981.5(TSPAN31):c.*945dup rs59185470

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