ClinVar Miner

List of variants in gene SCN5A reported as likely pathogenic for Brugada syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_198056.2(SCN5A):c.1066G>T (p.Asp356Tyr)
NM_198056.2(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_198056.2(SCN5A):c.4140_4142delCAA (p.Asn1380del) rs794728922
NM_198056.2(SCN5A):c.4312C>T (p.Pro1438Ser)
NM_198056.2(SCN5A):c.4813+3_4813+6dup rs886037904
NM_198056.2(SCN5A):c.5356_5357delCT (p.Leu1786Glufs) rs886037903
NM_198056.2(SCN5A):c.5770G>A (p.Ala1924Thr) rs137854603
NM_198056.2(SCN5A):c.844C>T (p.Arg282Cys) rs199473082

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.