ClinVar Miner

List of variants reported as likely pathogenic for Perrault syndrome 2 by Molecular Genetics Laboratory,University Hospital Copenhagen

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_012208.4(HARS2):c.137T>A (p.Leu46Gln) rs1562047621
NM_012208.4(HARS2):c.172A>G (p.Lys58Glu) rs201392711
NM_012208.4(HARS2):c.259C>T (p.Arg87Cys) rs754069818
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys) rs140540222
NM_012208.4(HARS2):c.980G>A (p.Arg327Gln) rs778499309

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.