ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive ataxia due to ubiquinone deficiency by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)	rs145034527	0.00004
NM_020247.5(COQ8A):c.1471T>A (p.Trp491Arg)	rs1278938202

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