List of variants in gene OTUD6B reported as pathogenic for syndromic intellectual disability

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

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter)	rs368313959	0.00011
NM_016023.5(OTUD6B):c.189_190del (p.His63fs)	rs779499353
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs)	rs748735420
NM_016023.5(OTUD6B):c.379_383del (p.Leu127fs)	rs759317757
NM_016023.5(OTUD6B):c.381_388del (p.Leu127fs)
NM_016023.5(OTUD6B):c.527_528del (p.Val176fs)	rs1472577530
NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys)	rs1064797103
NM_016023.5(OTUD6B):c.631G>T (p.Glu211Ter)	rs772032719
NM_016023.5(OTUD6B):c.83-1del
NM_016023.5(OTUD6B):c.83-2A>G	rs1064797102

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.