ClinVar Miner

List of variants in gene POLG reported as uncertain significance for Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_002693.2(POLG):c.1615_1623del (p.Phe539_Gln541del) rs754586219
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.3211C>T (p.Arg1071Cys) rs762593265
NM_002693.2(POLG):c.460G>A (p.Ala154Thr) rs753858440

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.