ClinVar Miner

List of variants reported as pathogenic for Brugada syndrome 5 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys) rs766910280 0.00004
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925 0.00002
NM_001037.5(SCN1B):c.3G>C (p.Met1Ile) rs2064208424 0.00001
NM_001037.5(SCN1B):c.105del (p.Phe36fs)
NM_001037.5(SCN1B):c.178dup (p.Arg60fs)
NM_001037.5(SCN1B):c.1A>C (p.Met1Leu) rs1375857363
NM_001037.5(SCN1B):c.207+1G>A rs2064222084
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037.5(SCN1B):c.2T>C (p.Met1Thr) rs2151745332
NM_001037.5(SCN1B):c.312_315del (p.Ile106fs)
NM_001037.5(SCN1B):c.347del (p.Ser116fs) rs794727487
NM_001037.5(SCN1B):c.3G>A (p.Met1Ile)
NM_001037.5(SCN1B):c.472G>A (p.Val158Met) rs138450474
NM_001037.5(SCN1B):c.518G>A (p.Trp173Ter)
NM_001037.5(SCN1B):c.59dup (p.Cys21fs)
NM_001037.5(SCN1B):c.94_95insC (p.Tyr32fs)

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.