List of variants in gene combination CYLD, NOD2 reported as uncertain significance for Blau syndrome

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001370466.1(NOD2):c.*462C>A	rs562972090	0.00029
NM_001370466.1(NOD2):c.*382C>T	rs535063121	0.00026
NM_001370466.1(NOD2):c.*1201T>A	rs751525993	0.00021
NM_001370466.1(NOD2):c.*470C>T	rs770461687	0.00021
NM_001370466.1(NOD2):c.*1013A>G	rs549273021	0.00009
NM_001370466.1(NOD2):c.*186C>G	rs886052045	0.00003
NM_001370466.1(NOD2):c.2974C>T (p.Arg992Ter)	rs104895491	0.00003
NM_001370466.1(NOD2):c.*394C>T	rs886052048	0.00002
NM_001370466.1(NOD2):c.*1200A>G	rs980810508	0.00001
NM_001370466.1(NOD2):c.*609C>T	rs1965489095	0.00001
NM_001370466.1(NOD2):c.*325G>A	rs886052046
NM_001370466.1(NOD2):c.329_334dup	rs886052047
NM_001370466.1(NOD2):c.*422C>G	rs886052049
NM_001370466.1(NOD2):c.*64G>C	rs1053712094
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)	rs2066847

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.