ClinVar Miner

List of variants in gene ASAH1 reported as pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
Download table as spreadsheet
NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro) rs147896487
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) rs150268016
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) rs141068211

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.