ClinVar Miner

List of variants in gene SCN1A reported as uncertain significance for Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
NM_006920.6(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_006920.6(SCN1A):c.1343T>C (p.Ile448Thr) rs755962326
NM_006920.6(SCN1A):c.136G>A (p.Glu46Lys) rs769582667
NM_006920.6(SCN1A):c.1604G>A (p.Arg535His) rs184524479
NM_006920.6(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_006920.6(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_006920.6(SCN1A):c.1803C>T (p.Asn601=) rs139403702
NM_006920.6(SCN1A):c.1898C>T (p.Ala633Val)
NM_006920.6(SCN1A):c.2653G>A (p.Val885Ile)
NM_006920.6(SCN1A):c.379C>G (p.His127Asp) rs148442069
NM_006920.6(SCN1A):c.602+1G>A rs794726827
NM_006920.6(SCN1A):c.635T>C (p.Val212Ala)

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.