ClinVar Miner

List of variants in gene TCF4 reported as pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.1146+1G>A rs587784458
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.1411C>T (p.Gln471Ter) rs797046033
NM_001083962.2(TCF4):c.1498G>T (p.Gly500Ter) rs587784459
NM_001083962.2(TCF4):c.1663G>T (p.Glu555Ter) rs1555711142
NM_001083962.2(TCF4):c.1733G>C (p.Arg578Pro) rs121909123
NM_001083962.2(TCF4):c.1834del (p.His612fs) rs1555710069
NM_001083962.2(TCF4):c.415del (p.Leu139fs) rs587784463
NM_001083962.2(TCF4):c.469C>T (p.Arg157Ter) rs587784464
NM_001083962.2(TCF4):c.652C>T (p.Gln218Ter) rs1064796853
NM_001083962.2(TCF4):c.655+1G>A rs587784465
NM_001083962.2(TCF4):c.655+1_655+2dup rs797046036
NM_001083962.2(TCF4):c.656-1G>C rs587784466
NM_001083962.2(TCF4):c.991-2A>G rs587784470

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.