ClinVar Miner

List of variants reported as uncertain significance for heart conduction disease by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

Included ClinVar conditions (98):
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.3437C>A (p.Thr1146Asn) rs759374610 0.00005
NM_001035.3(RYR2):c.6083G>A (p.Arg2028His) rs1313042151 0.00002
NM_001035.3(RYR2):c.12557T>C (p.Met4186Thr) rs1224160104 0.00001
NM_001035.3(RYR2):c.1403A>G (p.Glu468Gly) rs1282053556 0.00001
NM_000335.5(SCN5A):c.4553G>A (p.Gly1518Asp) rs1322825102
NM_001035.3(RYR2):c.4895T>A (p.Ile1632Asn) rs1373346977
NM_001035.3(RYR2):c.5507A>G (p.Asn1836Ser) rs1678261343
NM_001035.3(RYR2):c.6656G>T (p.Ser2219Ile) rs774615963

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.