ClinVar Miner

List of variants in gene YARS2 reported as pathogenic for Myopathy, lactic acidosis, and sideroblastic anemia 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter) rs587777214 0.00002
NM_001040436.3(YARS2):c.1303A>G (p.Ser435Gly) rs587777215
NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp) rs587777213
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001040436.3(YARS2):c.359dup (p.Asp121fs) rs797045077
NM_001040436.3(YARS2):c.572G>A (p.Gly191Asp) rs11539445
NM_001040436.3(YARS2):c.98C>A (p.Ser33Ter)

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.