ClinVar Miner

List of variants reported as pathogenic for cardiomyopathy by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_004453.3(ETFDH):c.[1367C>T];[1487T>C]
NM_004959.5(NR5A1):c.1210T>G (p.Tyr404Asp) rs863224904
NM_004959.5(NR5A1):c.151G>T (p.Glu51Ter) rs775441984
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_170707.4(LMNA):c.810+1G>C rs267607632

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.