ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 11 by Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.4426T>A (p.Phe1476Ile) rs2468126672
NM_001040142.2(SCN2A):c.4499C>T (p.Ala1500Val) rs2468129644
NM_001040142.2(SCN2A):c.4622T>A (p.Ile1541Asn) rs2468149509
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001040142.2(SCN2A):c.819C>A (p.Asn273Lys) rs2467890450

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.