List of variants in gene combination MILR1, POLG2 reported as likely benign for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007215.4(POLG2):c.674G>A (p.Arg225Gln)	rs148101254	0.00016
NM_007215.4(POLG2):c.496C>G (p.Gln166Glu)	rs370683331	0.00010
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly)	rs201936720	0.00002
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn)	rs563130304	0.00002

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.