List of variants studied for immunodeficiency 45

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

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001289125.3(IFNAR2):c.23T>C (p.Phe8Ser)	rs2229207	0.08893
NM_001289125.3(IFNAR2):c.505G>A (p.Val169Ile)	rs140533677	0.00014
NM_207585.3(IFNAR2):c.555_559del (p.Ile185fs)	rs1312285586	0.00006
NM_001289125.3(IFNAR2):c.343G>A (p.Gly115Arg)	rs150825310	0.00003
NM_001289125.3(IFNAR2):c.1067A>G (p.Glu356Gly)	rs746319376	0.00001
NM_001289125.3(IFNAR2):c.311del (p.Glu104fs)	rs775739391	0.00001
NM_001289125.3(IFNAR2):c.840+1G>T	rs746775306	0.00001
NM_001289125.3(IFNAR2):c.157T>C (p.Ser53Pro)	rs1987287426
NM_001289125.3(IFNAR2):c.158_160del (p.Ser53del)
NM_001289125.3(IFNAR2):c.28T>G (p.Phe10Val)	rs1051393
NM_001289125.3(IFNAR2):c.541-50A>G
NM_001289125.3(IFNAR2):c.841-102G>A	rs777044815
NM_001289125.3(IFNAR2):c.841-4del	rs34865572
NM_207585.3(IFNAR2):c.236del (p.Asp78_Leu79insTer)	rs1310889473

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.