ClinVar Miner

List of variants studied for Autosomal recessive ataxia due to ubiquinone deficiency by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_020247.5(COQ8A):c.1049A>G (p.Lys350Arg) rs548317868 0.00001

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