ClinVar Miner

List of variants reported as likely benign for Autosomal recessive ataxia due to ubiquinone deficiency by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020247.5(COQ8A):c.1573-20C>G	rs2297416	0.38143
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=)	rs55958233	0.01103

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