ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_025009.5(CEP135):c.2305A>C (p.Ile769Leu) rs3214045 0.20167
NM_025009.5(CEP135):c.335G>A (p.Arg112His) rs77591659 0.02766
NM_025009.5(CEP135):c.2976C>G (p.Thr992=) rs35143702 0.02394
NM_025009.5(CEP135):c.3075T>C (p.Asn1025=) rs61753870 0.02389
NM_025009.5(CEP135):c.1220G>A (p.Ser407Asn) rs62641664 0.01474
NM_025009.5(CEP135):c.2724A>G (p.Arg908=) rs113687114 0.01034
NM_025009.5(CEP135):c.2990C>T (p.Ser997Leu) rs146076380 0.00345
NM_025009.5(CEP135):c.1254A>G (p.Arg418=) rs62641662 0.00274
NM_025009.5(CEP135):c.2065A>G (p.Ile689Val) rs139407231 0.00252
NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile) rs76659072 0.00248
NM_025009.5(CEP135):c.638T>C (p.Val213Ala) rs150331261 0.00236
NM_025009.5(CEP135):c.2971A>G (p.Met991Val) rs115646074 0.00232
NM_025009.5(CEP135):c.473-12C>T rs77889786 0.00231
NM_025009.5(CEP135):c.2755A>C (p.Arg919=) rs151170797 0.00202
NM_025009.5(CEP135):c.636A>C (p.Glu212Asp) rs76941356 0.00181
NM_025009.5(CEP135):c.297C>T (p.His99=) rs115408010
NM_025009.5(CEP135):c.472+18C>T rs73155552
NM_025009.5(CEP135):c.998AAG[2] (p.Glu335del) rs374626758

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