List of variants in gene SCN1A reported by Diagnostic Laboratory, Strasbourg University Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)	rs398123588	0.00001
NM_001165963.4(SCN1A):c.607G>A (p.Val203Ile)	rs569880910	0.00001
NM_001165963.4(SCN1A):c.1028+1G>A	rs863225030
NM_001165963.4(SCN1A):c.1100C>T (p.Thr367Ile)	rs1698011519
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)	rs794726799
NM_001165963.4(SCN1A):c.1157dup (p.Asn386fs)	rs2105866757
NM_001165963.4(SCN1A):c.1439C>G (p.Ser480Ter)	rs2105852267
NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala)	rs1574214843
NM_001165963.4(SCN1A):c.2226del (p.Asn743fs)	rs2105829160
NM_001165963.4(SCN1A):c.2645T>C (p.Ile882Thr)	rs1696670375
NM_001165963.4(SCN1A):c.2868G>T (p.Met956Ile)	rs1553541172
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.