ClinVar Miner

List of variants reported as uncertain significance for congenital heart disease by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_000238.4(KCNH2):c.1128+1865C>T rs200324802 0.00038
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197 0.00007
NM_001308093.3(GATA4):c.1231T>C (p.Tyr411His) rs372808540 0.00003
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr) rs368104687 0.00001
NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp) rs180824037 0.00001
NM_000238.4(KCNH2):c.872T>G (p.Met291Arg) rs199472881
NM_022114.4(PRDM16):c.1901ACAAGG[1] (p.634DK[1]) rs772557308

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.