ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 30 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_173354.5(SIK1):c.1373del (p.Gln458fs) rs2516965790
NM_173354.5(SIK1):c.1582G>A (p.Gly528Arg) rs1555891024
NM_173354.5(SIK1):c.184C>T (p.Arg62Ter) rs2516968910

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.