ClinVar Miner

List of variants studied for Coenzyme Q10 deficiency, primary 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_001195248.2(APTX):c.-5+2T>G rs1563993041
NM_001358921.2(COQ2):c.220T>A (p.Tyr74Asn) rs1577993720
NM_001358921.2(COQ2):c.253+4A>T rs907149421
NM_001358921.2(COQ2):c.508G>A (p.Ala170Thr) rs1577986966
NM_015697.8(COQ2):c.1197del (p.Asn401fs) rs750710187
NM_015697.8(COQ2):c.1217_1219AGA[1] (p.Lys407del) rs765403087
NM_015697.8(COQ2):c.16C>A (p.Gln6Lys) rs752575160
NM_015697.8(COQ2):c.196G>T (p.Val66Leu) rs6818847
NM_015697.8(COQ2):c.437G>A (p.Ser146Asn) rs121918233
NM_015697.8(COQ2):c.590G>A (p.Arg197His) rs121918231
NM_015697.8(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_015697.8(COQ2):c.683A>G (p.Asn228Ser) rs121918232
NM_015697.8(COQ2):c.854C>G (p.Pro285Arg) rs1161445886
NM_015697.8(COQ2):c.890A>G (p.Tyr297Cys) rs121918230
NM_015697.8(COQ2):c.894T>C (p.Asp298=) rs6535454
NM_015697.8(COQ2):c.990C>T (p.Ser330=) rs1129617
NM_020247.5(COQ8A):c.*72dup rs1558212305
NM_020247.5(COQ8A):c.1939C>T (p.Gln647Ter) rs750925071
NM_020247.5(COQ8A):c.1942T>G (p.Ter648Glu) rs766591347
NM_020247.5(COQ8A):c.280_284del (p.Ser95fs)

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.