ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive ataxia due to ubiquinone deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys)	rs144147839	0.00025
NM_020247.5(COQ8A):c.1047G>A (p.Met349Ile)	rs1473665143	0.00002
NM_020247.5(COQ8A):c.853+10C>T	rs367945973	0.00002

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