ClinVar Miner

Variants in gene CEP135 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_025009.5(CEP135):c.2990C>T (p.Ser997Leu) rs146076380 0.00345
NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile) rs76659072 0.00248
NM_025009.5(CEP135):c.2767G>A (p.Glu923Lys) rs145959811 0.00158
NM_025009.5(CEP135):c.64C>T (p.Arg22Cys) rs150681316 0.00107
NM_025009.5(CEP135):c.2806A>G (p.Ile936Val) rs139474852 0.00076
NM_025009.5(CEP135):c.2802+4A>G rs199594373 0.00052
NM_025009.5(CEP135):c.700-10A>G rs369136062 0.00044
NM_025009.5(CEP135):c.993A>T (p.Arg331Ser) rs140748251 0.00027
NM_025009.5(CEP135):c.142C>T (p.Arg48Trp) rs202084972 0.00024
NM_025009.5(CEP135):c.3320G>A (p.Arg1107Gln) rs745603844 0.00013
NM_025009.5(CEP135):c.114C>T (p.Ser38=) rs780365984 0.00007
NM_025009.5(CEP135):c.203T>C (p.Leu68Ser) rs147697562 0.00007
NM_025009.5(CEP135):c.1644_1646del (p.Ala549del) rs776271846
NM_025009.5(CEP135):c.369A>G (p.Gln123=) rs147451921
NM_025009.5(CEP135):c.998AAG[2] (p.Glu335del) rs374626758

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