List of variants in gene AVIL, TSFM studied for Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001172697.2(TSFM):c.*33G>A	rs10783847	0.31327
NM_001172697.2(TSFM):c.*114G>A	rs10783848	0.31240
NM_005726.6(TSFM):c.*958C>G	rs57561819	0.00812
NM_005726.6(TSFM):c.*997G>C	rs114214463	0.00703
NM_005726.6(TSFM):c.*895A>G	rs58949411	0.00005
NM_005726.6(TSFM):c.*866T>G	rs1397583217	0.00002

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.