List of variants in gene SCN1A reported by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1164delinsGG (p.Tyr388Ter)	rs1697997770
NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter)	rs1574281711
NM_001165963.4(SCN1A):c.591del (p.Ile198fs)	rs1698941202
NM_001165963.4(SCN1A):c.689_690insG (p.Ile230fs)	rs1698732089

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.