ClinVar Miner

List of variants studied for Autosomal recessive ataxia due to ubiquinone deficiency by Solve-RD Consortium

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)	rs199874519	0.00016
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)	rs119468004	0.00002
NM_020247.5(COQ8A):c.1003C>T (p.Pro335Ser)	rs1487879565
NM_020247.5(COQ8A):c.620C>T (p.Pro207Leu)
NM_020247.5(COQ8A):c.802T>C (p.Cys268Arg)

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