List of variants reported as pathogenic for Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

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

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-CO3):m.9379G>A	rs267606615
NC_012920.1(MT-CYB):m.14846G>A	rs207459998
NC_012920.1(MT-CYB):m.15150G>A	rs207460000
NC_012920.1(MT-ND5):m.12425del	rs1603223730
NC_012920.1(MT-TE):m.14674T>C	rs387906421
NC_012920.1(MT-TE):m.14674T>G	rs387906421

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.