List of variants in gene COQ8A reported as benign for autosomal recessive ataxia due to ubiquinone deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_020247.5(COQ8A):c.730+260T>C	rs1888826	0.89455
NM_020247.5(COQ8A):c.1660-9T>C	rs7552783	0.45219
NM_020247.5(COQ8A):c.854-81A>G	rs2297412	0.45192
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=)	rs3738725	0.42035
NM_020247.5(COQ8A):c.1573-52G>A	rs2297415	0.38619
NM_020247.5(COQ8A):c.1573-20C>G	rs2297416	0.38143
NM_020247.5(COQ8A):c.*464G>A	rs8159	0.31059
NM_020247.5(COQ8A):c.117G>A (p.Ala39=)	rs11549708	0.16388
NM_020247.5(COQ8A):c.*681G>A	rs10482	0.06118
NM_020247.5(COQ8A):c.255T>G (p.His85Gln)	rs2297411	0.04148
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)	rs41303129	0.01390
NM_020247.5(COQ8A):c.63G>A (p.Ala21=)	rs11549709	0.01280
NM_020247.5(COQ8A):c.*133G>A	rs149820067	0.01173
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=)	rs55958233	0.01103
NM_020247.5(COQ8A):c.*790A>G	rs12565212	0.00855
NM_020247.5(COQ8A):c.*727C>T	rs16846762	0.00659
NM_020247.5(COQ8A):c.655+9G>A	rs146526153	0.00658
NM_020247.5(COQ8A):c.*230G>A	rs117808661	0.00143
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=)	rs56043893	0.00141
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr)	rs76249490	0.00140
NM_020247.4(COQ8A):c.807_808insT	rs3215920
NM_020247.5(COQ8A):c.1256+32del	rs3215919
NM_020247.5(COQ8A):c.1257-56G>T	rs1574185
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=)	rs12593
NM_020247.5(COQ8A):c.940-52C>G	rs2297413

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