ClinVar Miner

List of variants reported as likely pathogenic for Holt-Oram syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_218578501)_(219446991_?)del
NM_000192.3(TBX5):c.148-2A>G rs1565942511
NM_000192.3(TBX5):c.242+5G>A rs1555226575
NM_000192.3(TBX5):c.253C>T (p.Pro85Ser) rs1565941579
NM_000192.3(TBX5):c.510+1G>T rs1565940841
NM_000192.3(TBX5):c.510+5G>A rs1555226301
NM_000192.3(TBX5):c.510+5G>C rs1555226301
NM_000192.3(TBX5):c.664-2A>G rs1565935458
NM_000192.3(TBX5):c.668C>T (p.Thr223Met) rs1555225344
NM_000192.3(TBX5):c.677A>G (p.Lys226Arg) rs1565935426
NM_000192.3(TBX5):c.710G>A (p.Arg237Gln) rs104894378
NM_000192.3(TBX5):c.755+2T>C rs1565935314
NM_000192.3(TBX5):c.755G>C (p.Ser252Thr) rs863223776
NM_003238.5(TGFB2):c.346+1G>T rs1553292145
NM_003238.5(TGFB2):c.755-5_755-2delinsG rs1553303161
NM_003238.5(TGFB2):c.904C>T (p.Arg302Cys) rs869312903

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.