ClinVar Miner

List of variants in gene TOR1A reported as likely benign for early-onset generalized limb-onset dystonia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000113.3(TOR1A):c.*824del rs3842225 0.16184
NM_000113.3(TOR1A):c.*414del rs35153737 0.14443
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_000113.3(TOR1A):c.*415_*416insG rs60745320 0.00840
NM_000113.3(TOR1A):c.*193G>A rs151084518 0.00636
NM_000113.3(TOR1A):c.561C>T (p.Leu187=) rs115847158 0.00031
NM_000113.3(TOR1A):c.*930T>A rs144572721 0.00029
NM_000113.3(TOR1A):c.*112G>C rs75881350 0.00020
NM_000113.3(TOR1A):c.748+10G>A rs764569880 0.00003
NM_000113.3(TOR1A):c.*423del rs573629050
NM_000113.3(TOR1A):c.927A>C (p.Lys309Asn) rs2131001227

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.