ClinVar Miner

List of variants in gene SCN1A reported as likely pathogenic for Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_001165963.1(SCN1A):c.1025C>A (p.Ala342Glu) rs794726797
NM_001165963.1(SCN1A):c.661C>G (p.Leu221Val) rs886039456
NM_001165963.1(SCN1A):c.682T>C (p.Ser228Pro) rs1057519530
NM_001165963.2(SCN1A):c.2728C>T (p.Gln910Ter) rs794726721
NM_001165963.2(SCN1A):c.493T>C (p.Tyr165His) rs1553551493
NM_001202435.2(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_006920.4(SCN1A):c.1766A>T (p.Asp589Val) rs398123584
NM_006920.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_006920.4(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_006920.5(SCN1A):c.2010+10_2010+13del rs1553544470
NM_006920.5(SCN1A):c.338C>G (p.Pro113Arg) rs1553553462
NM_006920.5(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817

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.