ClinVar Miner

List of variants in gene FLAD1 reported as pathogenic for cardiomyopathy

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys) rs771466122 0.00005
NM_025207.5(FLAD1):c.568_569dup (p.Val191fs) rs876661310 0.00003
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter) rs199979286 0.00001
NM_025207.5(FLAD1):c.1484_1486del (p.Ser495del) rs876661309
NM_025207.5(FLAD1):c.324del (p.Arg109fs) rs876661314
NM_025207.5(FLAD1):c.401_404del (p.Phe134fs) rs876661313
NM_025207.5(FLAD1):c.498del (p.Ser167fs) rs876661315
NM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs) rs876661312
NM_025207.5(FLAD1):c.836del (p.Phe279fs) rs876661311

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.