List of variants studied for Mitochondrial oxidative phosphorylation disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)	rs144972972	0.00013
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)	rs143747297	0.00003
NM_025152.3(NUBPL):c.2T>C (p.Met1Thr)	rs567437692	0.00001
NM_032861.4(SERAC1):c.21C>A (p.Cys7Ter)	rs139301835
NM_139242.4(MTFMT):c.1100_1101del (p.Phe367fs)	rs754222633

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.