List of variants in gene VARS2 reported as likely pathogenic for combined oxidative phosphorylation defect type 20

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)	rs202201763	0.00039
NM_020442.6(VARS2):c.2467-2A>G	rs200075594	0.00011
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp)	rs139515727	0.00011
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter)	rs143821815	0.00005
NM_020442.6(VARS2):c.1066C>T (p.Arg356Ter)
NM_020442.6(VARS2):c.1400G>C (p.Arg467Pro)	rs775439829
NM_020442.6(VARS2):c.1463_1465del (p.Gly488del)	rs1554268077
NM_020442.6(VARS2):c.1480-2A>G
NM_020442.6(VARS2):c.1583G>A (p.Trp528Ter)
NM_020442.6(VARS2):c.2692G>T (p.Glu898Ter)	rs2150570235
NM_020442.6(VARS2):c.2869_2876dup (p.Leu961fs)	rs1794789052

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.