ClinVar Miner

List of variants studied for congenital heart disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 0.00004
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter) rs765669597 0.00003
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033 0.00002
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) rs766023530 0.00001
NM_001368067.1(LDB3):c.430G>A (p.Gly144Ser) rs915830221 0.00001
NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter) rs1598211614
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly) rs28940309

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.