ClinVar Miner

List of variants in gene ZEB2 reported as pathogenic for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_014795.4(ZEB2):c.1387del (p.Val463fs) rs1573717173
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1537del (p.Leu513fs) rs1553961697
NM_014795.4(ZEB2):c.175G>T (p.Glu59Ter)
NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter) rs587784563
NM_014795.4(ZEB2):c.2102C>A (p.Ser701Ter) rs1703271038
NM_014795.4(ZEB2):c.2609C>A (p.Ser870Ter) rs1553961516
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter) rs797046120
NM_014795.4(ZEB2):c.3147del (p.Ser1050fs) rs1703134890
NM_014795.4(ZEB2):c.362_363dup (p.Pro122fs)
NM_014795.4(ZEB2):c.637_640dup (p.Pro214fs)
NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter) rs587784570
NM_014795.4(ZEB2):c.909_910insTTTC (p.His304fs) rs1703305657
NM_014795.4(ZEB2):c.916+1G>A

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.