ClinVar Miner

List of variants in gene CEP78 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001330691.3(CEP78):c.898T>C (p.Ser300Pro) rs72743760 0.00158
NM_001330691.3(CEP78):c.103C>T (p.Arg35Cys) rs200483715 0.00128
NM_001330691.3(CEP78):c.1194A>G (p.Ala398=) rs138501486 0.00084
NM_001330691.3(CEP78):c.1273G>C (p.Val425Leu) rs375721961 0.00006
NM_001330691.3(CEP78):c.2107+10C>G rs374257343 0.00004
NM_001330691.3(CEP78):c.120G>C (p.Glu40Asp) rs746861398 0.00002

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