ClinVar Miner

List of variants in gene combination CFAP91, LOC129937328 reported as pathogenic by Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_033364.4(CFAP91):c.124G>C (p.Asp42His) rs149348782 0.00006

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