ClinVar Miner

List of variants reported as pathogenic for Dystonia 25 by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001369387.1(GNAL):c.61C>T (p.Arg21Ter) rs398122928
NM_182978.4(GNAL):c.1109C>A (p.Ser370Ter) rs398122924
NM_182978.4(GNAL):c.514dup (p.Ser172fs) rs398122926
NM_182978.4(GNAL):c.640G>A (p.Val214Met) rs398122923
NM_182978.4(GNAL):c.694G>A (p.Glu232Lys) rs398122925
NM_182978.4(GNAL):c.822dup (p.Arg275fs) rs398122927

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.