ClinVar Miner

List of variants reported as pathogenic for Johanson-Blizzard syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_174916.3(UBR1):c.1440-1G>A rs1596118528
NM_174916.3(UBR1):c.1537C>T (p.Gln513Ter) rs119477055
NM_174916.3(UBR1):c.2839+5G>A rs1596106023
NM_174916.3(UBR1):c.407A>G (p.His136Arg) rs119477054
UBR1, IVS20DS, T-C, +2

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.