ClinVar Miner

List of variants reported as likely pathogenic for Brugada syndrome by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter)
NM_001099404.1(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_198056.2(SCN5A):c.255del (p.Phe86fs) rs727503411
NM_198056.2(SCN5A):c.3285G>A (p.Trp1095Ter) rs759924541
NM_198056.2(SCN5A):c.3573G>A (p.Trp1191Ter)
NM_198056.2(SCN5A):c.393-1C>T rs759235726
NM_198056.2(SCN5A):c.3956G>T (p.Gly1319Val) rs199473220
NM_198056.2(SCN5A):c.3963+1G>A rs483353016
NM_198056.2(SCN5A):c.704-2A>G rs1553705586

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.