ClinVar Miner

List of variants reported as uncertain significance for congenital anomaly of cardiovascular system by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_002471.4(MYH6):c.3230A>T (p.Gln1077Leu) rs377716628 0.00032
NM_138295.5(PKD1L1):c.913C>T (p.Pro305Ser) rs201201664 0.00024
NM_001386795.1(DTNA):c.1637G>A (p.Arg546Gln) rs773504046 0.00003
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met) rs199472693 0.00001
NM_001451.3(FOXF1):c.636G>C (p.Ser212=) rs776649998 0.00001
NM_080473.5(GATA5):c.695G>A (p.Arg232His) rs753656900 0.00001
NM_004387.4(NKX2-5):c.492_494del (p.Ala165del)

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.