ClinVar Miner

List of variants in gene TOR1A reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000113.3(TOR1A):c.246C>T (p.Ala82=) rs2296793 0.22977
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_000113.3(TOR1A):c.863G>T (p.Arg288Leu) rs727502811
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233

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.