ClinVar Miner

List of variants studied for Autosomal recessive ataxia due to ubiquinone deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.1081-1_1082dup rs1057519344
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439

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