List of variants reported as likely pathogenic for combined oxidative phosphorylation deficiency by Mendelics

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
NM_024678.6(NARS2):c.1253G>A (p.Arg418His)	rs535877562	0.00020
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)	rs777028011	0.00002
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp)	rs762576741	0.00001
NM_017909.4(RMND1):c.388del (p.Val130fs)	rs1582970514
NM_020745.4(AARS2):c.790G>A (p.Val264Met)	rs2153356902
NM_033109.5(PNPT1):c.526G>A (p.Ala176Thr)	rs1365308037

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.