ClinVar Miner

List of variants reported as pathogenic for congenital heart defects, multiple types by OMIM

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_001492.6(GDF1):c.1091T>C (p.Met364Thr) rs374016704 0.00028
NM_001292034.3(TAB2):c.622C>T (p.Pro208Ser) rs267607101 0.00001
NM_001292034.3(TAB2):c.688C>A (p.Gln230Lys) rs267607100 0.00001
NM_001292034.3(TAB2):c.1398dup (p.Thr467fs) rs1781524947
NM_001292034.3(TAB2):c.1491T>A (p.Tyr497Ter) rs1562443558
NM_001292034.3(TAB2):c.446C>G (p.Ser149Ter) rs2114883576
NM_005901.6(SMAD2):c.237-12A>G rs1402819968
NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter) rs1064793873
NM_005901.6(SMAD2):c.784+1G>A rs397509416
NM_005901.6(SMAD2):c.822G>C (p.Trp274Cys) rs367537998
NM_005901.6(SMAD2):c.935G>C (p.Cys312Ser) rs797044882
NM_015103.3(PLXND1):c.2733C>G (p.Ile911Met)
NM_015103.3(PLXND1):c.3895C>T (p.Arg1299Cys)
NM_015103.3(PLXND1):c.5323A>T (p.Ile1775Phe)
NM_015103.3(PLXND1):c.652A>T (p.Ser218Cys)
NM_015103.3(PLXND1):c.880_881del (p.Gln294fs)
NM_021005.4(NR2F2):c.1022C>A (p.Ser341Tyr) rs587777371
NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup) rs780808943
NM_021005.4(NR2F2):c.247G>T (p.Gly83Ter) rs1555447012
NM_021005.4(NR2F2):c.614A>T (p.Asn205Ile) rs587777372
NM_021005.4(NR2F2):c.856dup (p.Val286fs) rs886041730
NM_021005.4(NR2F2):c.970+1G>A rs587777374
NM_021005.4(NR2F2):c.97_103del (p.Pro33fs) rs1899167019
NM_080473.5(GATA5):c.46T>G (p.Tyr16Asp) rs1555897088
NM_080473.5(GATA5):c.569T>C (p.Val190Ala) rs782051102
NM_080473.5(GATA5):c.595C>G (p.Leu199Val) rs1555896779
NM_080473.5(GATA5):c.598T>G (p.Trp200Gly) rs1555896778

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.