ClinVar Miner

List of variants studied for Severe myoclonic epilepsy in infancy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482
NM_001165963.4(SCN1A):c.126del (p.Asp43fs) rs1553560831
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624

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.