ClinVar Miner

List of variants reported as uncertain significance for heart conduction disease by Center for Human Genetics, University of Leuven

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser) rs775608046 0.00005
NM_000256.3(MYBPC3):c.841C>T (p.Arg281Trp) rs371711564 0.00003
NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu) rs763031434 0.00001
NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His) rs369058100 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.