ClinVar Miner

List of variants reported as pathogenic for cardiomyopathy by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

Included ClinVar conditions (519):
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.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) rs370694515 0.00001
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000335.5(SCN5A):c.1247A>G (p.Tyr416Cys) rs372395294
NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del) rs1060499940
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.5(SCN5A):c.6045G>A (p.Val2015=) rs1060499941
NM_002633.3(PGM1):c.1091del (p.Asn364fs) rs1557437034

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.