ClinVar Miner

List of variants studied for Autosomal recessive ataxia due to ubiquinone deficiency by Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_020247.5(COQ8A):c.589-3C>G rs1229054489 0.00001
NM_020247.5(COQ8A):c.127del (p.Leu43fs) rs754586499
NM_020247.5(COQ8A):c.1376T>C (p.Leu459Pro) rs1433323183
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp) rs752130338

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