ClinVar Miner

List of variants studied for congenital anomaly of cardiovascular system by Biotechnology Research Center, Pasteur Institute of Iran

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1426_1429del (p.Met476fs) rs1554903804
NM_000218.3(KCNQ1):c.1534del (p.Ala512fs) rs1554919471
NM_000218.3(KCNQ1):c.1732+5del rs1554920833
NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly) rs199473442
NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs) rs1554893092
NM_000218.3(KCNQ1):c.934A>T (p.Thr312Ser) rs1554894445

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.