ClinVar Miner

List of variants in gene COQ8A reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.*349G>A rs113041399 0.00729
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228 0.00567
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_020247.5(COQ8A):c.384C>T (p.Ala128=) rs139970507 0.00250
NM_020247.5(COQ8A):c.948C>T (p.Leu316=) rs55637780 0.00229
NM_020247.5(COQ8A):c.618G>A (p.Val206=) rs115855910 0.00220
NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr) rs150696959 0.00153
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys) rs150243147 0.00127
NM_020247.5(COQ8A):c.1876C>T (p.Arg626Cys) rs141725964 0.00089
NM_020247.5(COQ8A):c.258A>C (p.Ala86=) rs137872711 0.00043
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094 0.00026
NM_020247.5(COQ8A):c.1572+7G>A rs371874740 0.00014
NM_020247.5(COQ8A):c.798G>A (p.Thr266=) rs750042754 0.00005
NM_020247.5(COQ8A):c.309G>A (p.Ala103=) rs1268268386 0.00002
NM_020247.5(COQ8A):c.1104C>T (p.Ile368=)
NM_020247.5(COQ8A):c.1293T>G (p.Pro431=) rs1572083099
NM_020247.5(COQ8A):c.1449C>T (p.His483=) rs1463222983
NM_020247.5(COQ8A):c.656-1038G>A
NM_020247.5(COQ8A):c.656-1169A>G
NM_020247.5(COQ8A):c.656-1256_656-1241del
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712

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.