List of variants studied for Blau syndrome; Inflammatory bowel disease 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val)	rs377554134	0.00011
NM_001370466.1(NOD2):c.947T>C (p.Leu316Pro)	rs369732140	0.00003
NM_001370466.1(NOD2):c.2528G>A (p.Arg843Lys)	rs768889214	0.00002
NM_001370466.1(NOD2):c.2443T>C (p.Cys815Arg)	rs146313066	0.00001
NM_001370466.1(NOD2):c.1022T>C (p.Leu341Pro)	rs1964452487
NM_001370466.1(NOD2):c.1058G>A (p.Gly353Asp)	rs1964456255
NM_001370466.1(NOD2):c.1112C>T (p.Thr371Ile)	rs1964461594
NM_001370466.1(NOD2):c.1379T>A (p.Val460Asp)	rs1964489081
NM_001370466.1(NOD2):c.1639C>G (p.Gln547Glu)	rs1264862631
NM_001370466.1(NOD2):c.2022C>T (p.Leu674=)	rs1459264285
NM_001370466.1(NOD2):c.2226G>C (p.Leu742Phe)	rs1266638330
NM_001370466.1(NOD2):c.2419A>C (p.Lys807Gln)	rs1964807205
NM_001370466.1(NOD2):c.2652G>A (p.Val884=)	rs1359941511
NM_001370466.1(NOD2):c.2906C>T (p.Thr969Ile)	rs1567407613
NM_001370466.1(NOD2):c.706G>A (p.Val236Met)	rs756042160

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.