List of variants reported as pathogenic for Autosomal recessive ataxia due to ubiquinone deficiency by OMIM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)	rs41303129	0.01390
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser)	rs119468009	0.00006
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)	rs119468004	0.00002
NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys)	rs119468008	0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)	rs119468005	0.00001
NM_020247.5(COQ8A):c.1398+2T>C	rs606231138
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)	rs387906299
NM_020247.5(COQ8A):c.1813dup (p.Glu605fs)	rs387906298
NM_020247.5(COQ8A):c.500_521delinsTTG (p.Gln167fs)	rs606231139
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp)	rs119468006
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val)	rs119468006

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