List of variants in gene SCN1A reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1264G>T (p.Val422Leu)	rs886042528
NM_001165963.4(SCN1A):c.2528del (p.Ser843fs)	rs2105816922
NM_001165963.4(SCN1A):c.2584C>G (p.Arg862Gly)	rs397514459
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)	rs121918623
NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe)	rs121918625
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr)	rs121918631
NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val)	rs121917953
NM_001165963.4(SCN1A):c.657_658del (p.Arg219fs)	rs1574272192
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)	rs121918624
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	rs121917984

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.