ClinVar Miner

List of variants in gene SCN1A reported as uncertain significance for Severe myoclonic epilepsy in infancy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu)
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His) rs184524479
NM_001165963.4(SCN1A):c.1898C>T (p.Ala633Val) rs1574215846
NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala) rs1574214843
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg)
NM_001165963.4(SCN1A):c.2177-2A>T rs1436792531
NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr)
NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser) rs561912072
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile) rs745378416
NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val)
NM_001165963.4(SCN1A):c.404T>C (p.Met135Thr) rs1574290850
NM_001165963.4(SCN1A):c.635T>C (p.Val212Ala) rs551068385

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.