ClinVar Miner

List of variants reported as uncertain significance for Primary dilated cardiomyopathy by Phosphorus, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_001032283.3(TMPO):c.565+1696C>T rs141443652 0.00142
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser) rs201503021 0.00064
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872 0.00049
NM_001032283.3(TMPO):c.565+1165G>C rs191275106 0.00001
NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val) rs547323858
NM_001458.5(FLNC):c.4566G>T (p.Gln1522His) rs559667295
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) rs1555738085

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.