List of variants reported as uncertain significance for Johanson-Blizzard syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met)	rs142285781	0.00053
NM_174916.3(UBR1):c.947G>A (p.Arg316His)	rs147396426	0.00017
NM_174916.3(UBR1):c.2075T>C (p.Ile692Thr)
NM_174916.3(UBR1):c.2261G>A (p.Arg754His)	rs1567131023
NM_174916.3(UBR1):c.2273G>A (p.Gly758Glu)	rs1131691524
NM_174916.3(UBR1):c.3848+5G>A	rs2141276718
NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp)	rs963383651
NM_174916.3(UBR1):c.593T>C (p.Ile198Thr)

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.