ClinVar Miner

List of variants reported as likely pathogenic for Brugada syndrome 8 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser) rs121908411
NM_005477.3(HCN4):c.1439G>T (p.Gly480Val) rs1060500103
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His) rs1057519275
NM_005477.3(HCN4):c.1442A>G (p.Tyr481Cys) rs2151217044
NM_005477.3(HCN4):c.1471G>A (p.Asp491Asn) rs1060500107
NM_005477.3(HCN4):c.1471G>C (p.Asp491His) rs1060500107
NM_005477.3(HCN4):c.2143+1G>A rs1555475434
NM_005477.3(HCN4):c.2515_2518dup (p.Ala840fs) rs2549068917

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.