ClinVar Miner

List of variants studied for Brugada syndrome by Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00029
NM_000719.7(CACNA1C):c.4956+5G>C rs758948589 0.00002
NM_000335.5(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000335.5(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs) rs794728914
NM_000335.5(SCN5A):c.4769G>A (p.Trp1590Ter) rs863225273
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000891.3(KCNJ2):c.83A>G (p.Asn28Ser) rs2074384666
NM_001035.3(RYR2):c.4235A>G (p.Asp1412Gly) rs1553515461
NM_001040151.2(SCN3B):c.118C>T (p.Pro40Ser) rs762633602
NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del) rs730880049

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.