ClinVar Miner

List of variants in gene SCN1A reported as pathogenic by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1028+1G>T rs863225030
NM_001165963.4(SCN1A):c.1034G>A (p.Cys345Tyr) rs1057518243
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe) rs121918768
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys) rs796052973
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2173G>T (p.Glu725Ter) rs1553543828
NM_001165963.4(SCN1A):c.2177-1G>C rs763400390
NM_001165963.4(SCN1A):c.249C>A (p.Tyr83Ter) rs863225031
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.264+5G>A rs794726762
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) rs794726718
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys) rs121918775
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.302G>T (p.Arg101Leu) rs121917918
NM_001165963.4(SCN1A):c.386T>G (p.Leu129Ter) rs2105909995
NM_001165963.4(SCN1A):c.559_602+6del rs1553551304
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser) rs121917937
NM_001165963.4(SCN1A):c.992dup (p.Leu331fs) rs863225038

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.