ClinVar Miner

Variants in gene COQ8A with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
Download table as spreadsheet
HGVS dbSNP
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=) rs886046069
NM_020247.5(COQ8A):c.1773T>C (p.Ile591=) rs369502091
NM_020247.5(COQ8A):c.1800C>G (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=) rs774789966
NM_020247.5(COQ8A):c.1899C>T (p.Phe633=) rs150569155
NM_020247.5(COQ8A):c.258A>C (p.Ala86=) rs137872711
NM_020247.5(COQ8A):c.358G>A (p.Val120Met) rs376347405
NM_020247.5(COQ8A):c.62C>T (p.Ala21Val) rs142184584
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020247.5(COQ8A):c.730+7C>T rs370924314
NM_020247.5(COQ8A):c.798G>A (p.Thr266=) rs750042754
NM_020247.5(COQ8A):c.957C>T (p.Asp319=) rs764147237
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys) rs150243147

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.