ClinVar Miner

List of variants reported as benign for Progressive external ophthalmoplegia with mitochondrial DNA deletions by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007215.4(POLG2):c.1158T>G (p.Asp386Glu) rs61751983 0.00235
NM_001151.3(SLC25A4):c.-108C>T rs3733651 0.00164
NM_001151.4(SLC25A4):c.*173_*174del rs112970805 0.00148
NM_001151.4(SLC25A4):c.*323TTA[1] rs139462979
NM_007215.4(POLG2):c.1191+6dup rs60611997
NM_015713.5(RRM2B):c.*1894dup rs150629554

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.