ClinVar Miner

List of variants in gene PDSS2 studied for Coenzyme Q10 deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020381.4(PDSS2):c.*769G>A rs782037173 0.00013
NM_020381.4(PDSS2):c.*1886_*1887insAA rs886060915
NM_020381.4(PDSS2):c.*2032dup rs886060914
NM_020381.4(PDSS2):c.*544dup rs35619837

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.