ClinVar Miner

List of variants in gene UBR1 studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_174916.3(UBR1):c.1213A>G (p.Ser405Gly) rs77360687
NM_174916.3(UBR1):c.1440-1G>A rs1596118528
NM_174916.3(UBR1):c.1537C>T (p.Gln513Ter) rs119477055
NM_174916.3(UBR1):c.2261G>A (p.Arg754His)
NM_174916.3(UBR1):c.2839+5G>A rs1596106023
NM_174916.3(UBR1):c.407A>G (p.His136Arg) rs119477054
NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter) rs797045112
NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp)
NM_174916.3(UBR1):c.947G>A (p.Arg316His)
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.