ClinVar Miner

List of variants in gene COQ8A reported as benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020247.4(COQ8A):c.*815C>T rs10495274 0.53093
NM_020247.5(COQ8A):c.1660-9T>C rs7552783 0.45219
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
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.*389dup rs11420839
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.