List of variants reported as likely pathogenic for congenital anomaly of cardiovascular system by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)	rs573916965	0.00006
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)	rs199473434	0.00005
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val)	rs199473012	0.00004
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln)	rs773204795	0.00003
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	rs12720458	0.00001
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln)	rs199473124	0.00001
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe)	rs199472760
NM_000218.3(KCNQ1):c.1049G>T (p.Gly350Val)	rs794728524
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)	rs199472805
NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn)	rs794728578
NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro)	rs1801182500
NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala)	rs199472951
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu)	rs121912510
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter)	rs1554431441
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr)	rs199473380

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.