ClinVar Miner

List of variants in gene CEP135 reported as uncertain significance by Ambry Genetics

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_025009.5(CEP135):c.993A>T (p.Arg331Ser) rs140748251 0.00027
NM_025009.5(CEP135):c.2617-3C>T rs377744366 0.00015
NM_025009.5(CEP135):c.1528C>T (p.Arg510Cys) rs778189963 0.00006
NM_025009.5(CEP135):c.2396T>C (p.Leu799Pro) rs751118192 0.00006
NM_025009.5(CEP135):c.502C>T (p.Arg168Cys) rs750392584 0.00005
NM_025009.5(CEP135):c.2977C>G (p.Gln993Glu) rs895357772 0.00004
NM_025009.5(CEP135):c.3116C>T (p.Thr1039Ile) rs771674558 0.00003
NM_025009.5(CEP135):c.1325G>A (p.Arg442His) rs192961697 0.00001
NM_025009.5(CEP135):c.2666G>A (p.Arg889His) rs1302832769 0.00001
NM_025009.5(CEP135):c.2675A>G (p.Asp892Gly) rs146257324 0.00001
NM_025009.5(CEP135):c.1123T>C (p.Cys375Arg)
NM_025009.5(CEP135):c.1303C>T (p.Arg435Cys)
NM_025009.5(CEP135):c.1360C>G (p.Arg454Gly) rs76055256
NM_025009.5(CEP135):c.1783A>G (p.Ile595Val)
NM_025009.5(CEP135):c.1837T>G (p.Leu613Val)
NM_025009.5(CEP135):c.1852C>T (p.His618Tyr)
NM_025009.5(CEP135):c.1966G>T (p.Ala656Ser)
NM_025009.5(CEP135):c.1979C>A (p.Ser660Tyr)
NM_025009.5(CEP135):c.226G>A (p.Ala76Thr)
NM_025009.5(CEP135):c.2276A>C (p.Asn759Thr)
NM_025009.5(CEP135):c.2342T>G (p.Leu781Arg)
NM_025009.5(CEP135):c.2386C>T (p.Arg796Trp)
NM_025009.5(CEP135):c.2387G>T (p.Arg796Leu)
NM_025009.5(CEP135):c.2442A>C (p.Glu814Asp)
NM_025009.5(CEP135):c.2616G>T (p.Lys872Asn)
NM_025009.5(CEP135):c.268A>G (p.Met90Val)
NM_025009.5(CEP135):c.2740A>G (p.Ile914Val) rs371154393
NM_025009.5(CEP135):c.2848G>A (p.Ala950Thr)
NM_025009.5(CEP135):c.2867T>C (p.Leu956Ser)
NM_025009.5(CEP135):c.2938C>A (p.Leu980Ile)
NM_025009.5(CEP135):c.3113C>G (p.Ala1038Gly)
NM_025009.5(CEP135):c.313A>G (p.Thr105Ala)
NM_025009.5(CEP135):c.3197C>G (p.Thr1066Ser)
NM_025009.5(CEP135):c.3215T>C (p.Leu1072Ser)
NM_025009.5(CEP135):c.3278A>G (p.Tyr1093Cys) rs1553895735
NM_025009.5(CEP135):c.3411T>A (p.His1137Gln)
NM_025009.5(CEP135):c.376C>A (p.His126Asn)
NM_025009.5(CEP135):c.397A>G (p.Lys133Glu)
NM_025009.5(CEP135):c.491T>C (p.Ile164Thr)
NM_025009.5(CEP135):c.517A>G (p.Ile173Val)
NM_025009.5(CEP135):c.545T>C (p.Val182Ala)
NM_025009.5(CEP135):c.595C>T (p.Leu199Phe)
NM_025009.5(CEP135):c.65G>A (p.Arg22His)
NM_025009.5(CEP135):c.666G>A (p.Met222Ile)
NM_025009.5(CEP135):c.737T>C (p.Val246Ala)

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