List of variants in gene IFNGR1 reported as benign for autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000416.3(IFNGR1):c.-56T>C	rs2234711	0.42896
NM_000416.3(IFNGR1):c.1050T>G (p.Ser350=)	rs11914	0.12487
NM_000416.3(IFNGR1):c.862-4A>G	rs3799488	0.09069
NM_000416.2(IFNGR1):c.-72C>T	rs17181457	0.05060
NM_000416.3(IFNGR1):c.1400T>C (p.Leu467Pro)	rs1887415	0.01172
NM_000416.3(IFNGR1):c.*41G>A	rs17181562	0.00826
NM_000416.3(IFNGR1):c.*206A>G	rs1887416	0.00801
NM_000416.3(IFNGR1):c.*217T>A	rs1887417	0.00763
NM_000416.3(IFNGR1):c.42G>A (p.Val14=)	rs17181471	0.00633
NM_000416.3(IFNGR1):c.1004A>C (p.His335Pro)	rs17175350	0.00438
NM_000416.3(IFNGR1):c.538G>A (p.Gly180Arg)	rs137854904	0.00142
NM_000416.3(IFNGR1):c.48G>A (p.Arg16=)	rs11575931	0.00038
NM_000416.3(IFNGR1):c.522G>A (p.Val174=)	rs557217199
NM_000416.3(IFNGR1):c.85+10T>C	rs7749390

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.