ClinVar Miner

List of variants studied for Brugada syndrome by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His) rs771703569 0.00015
NM_000335.5(SCN5A):c.86C>T (p.Ala29Val) rs562675882 0.00008
NM_000335.5(SCN5A):c.1036G>A (p.Glu346Lys) rs368552426 0.00001
NM_000335.5(SCN5A):c.872A>G (p.Asn291Ser) rs199473563 0.00001
NM_006514.4(SCN10A):c.410C>T (p.Thr137Met) rs148663098 0.00001
NM_000335.5(SCN5A):c.4136A>G (p.Asn1379Ser)
NM_000335.5(SCN5A):c.4285G>A (p.Asp1429Asn)
NM_000335.5(SCN5A):c.5540T>G (p.Ile1847Ser)
NM_005477.3(HCN4):c.604C>A (p.Pro202Thr)
NM_201596.3(CACNB2):c.3G>A (p.Met1Ile)

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.