ClinVar Miner

List of variants studied for Coenzyme Q10 deficiency by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014317.4(PDSS1):c.-29C>T rs537781419 0.01066
NM_020381.4(PDSS2):c.*769G>A rs782037173 0.00013
NM_020312.3(COQ9):c.-37C>G rs886052178 0.00010
NM_001358921.2(COQ2):c.*257T>C rs746613612 0.00003
NM_001358921.2(COQ2):c.*348dup rs542593202
NM_001358921.2(COQ2):c.138dup (p.Ala47fs) rs759310292
NM_014317.5(PDSS1):c.*110_*113dup rs144094307
NM_014317.5(PDSS1):c.1027-7_1027-6del rs527296865
NM_014317.5(PDSS1):c.163-5del rs34296355
NM_020312.4(COQ9):c.-25C>T rs547268811
NM_020312.4(COQ9):c.73+9del rs749532852
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.