ClinVar Miner

List of variants reported for Brugada syndrome by Blueprint Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00149
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856 0.00043
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325 0.00042
NM_001148.6(ANK2):c.10881T>G (p.His3627Gln) rs148405740 0.00029
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985 0.00021
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_003098.3(SNTA1):c.821G>A (p.Arg274Gln) rs137986136 0.00005
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser) rs199473552 0.00004
NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His) rs730880207 0.00003
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441 0.00001
NM_000335.5(SCN5A):c.4129G>A (p.Val1377Met) rs748312802 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.3349C>T (p.Gln1117Ter) rs869025520
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del) rs869025522
NM_000335.5(SCN5A):c.784A>C (p.Ser262Arg) rs777689378
NM_000722.4(CACNA2D1):c.439C>T (p.Pro147Ser) rs869025369
NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del) rs730880049
NM_001378969.1(KCND3):c.817G>A (p.Gly273Ser) rs869025444
NM_014391.3(ANKRD1):c.612G>T (p.Leu204Phe) rs869025363

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.