ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive ataxia due to ubiquinone deficiency by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln)	rs767584322	0.00003
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val)	rs748118737	0.00002
NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val)	rs767406263

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