List of variants reported as likely pathogenic for combined oxidative phosphorylation defect type 24

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024678.6(NARS2):c.1253G>A (p.Arg418His)	rs535877562	0.00020
NM_024678.6(NARS2):c.749G>A (p.Arg250Gln)	rs150879145	0.00003
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser)	rs1565216037
NM_024678.6(NARS2):c.822+6703_959+1726del
NM_024678.6(NARS2):c.822+6704_959+1727del
NM_024678.6(NARS2):c.947del (p.Asn316fs)	rs755975670
NM_024678.6(NARS2):c.959+1505T>G
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter)	rs565224393

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.