ClinVar Miner

List of variants reported for Brugada syndrome by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser) rs41314354 0.00079
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320 0.00041
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_005472.5(KCNE3):c.296G>A (p.Arg99His) rs121908441 0.00007
NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) rs201641342 0.00004
NM_000335.5(SCN5A):c.1940C>T (p.Ala647Val) rs185638763 0.00001

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.