ClinVar Miner

List of variants in gene IFNGR2 reported as likely benign for autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp) rs121913212 0.00235
NM_005534.4(IFNGR2):c.595T>C (p.Leu199=) rs149173957 0.00044
NM_005534.4(IFNGR2):c.312C>T (p.Gly104=) rs142325229 0.00021
NM_005534.4(IFNGR2):c.90G>A (p.Leu30=) rs546201964 0.00020
NM_005534.4(IFNGR2):c.139C>T (p.Leu47=) rs368952126 0.00009
NM_005534.4(IFNGR2):c.417T>G (p.Thr139=) rs747498076 0.00006
NM_005534.4(IFNGR2):c.126C>T (p.Asn42=) rs376457511 0.00004
NM_005534.4(IFNGR2):c.206+8G>A rs766931525 0.00004
NM_005534.4(IFNGR2):c.249G>A (p.Gly83=) rs141609920 0.00004
NM_005534.4(IFNGR2):c.285C>T (p.Asp95=) rs758417098 0.00004
NM_005534.4(IFNGR2):c.174G>A (p.Thr58=) rs562561420 0.00003
NM_005534.4(IFNGR2):c.510G>A (p.Thr170=) rs121913209 0.00003
NM_005534.4(IFNGR2):c.206+20G>A rs1389250267 0.00001
NM_005534.4(IFNGR2):c.255T>C (p.Asn85=) rs757139767 0.00001
NM_005534.4(IFNGR2):c.294C>T (p.Ala98=) rs370358695 0.00001
NM_005534.4(IFNGR2):c.375C>T (p.Ala125=) rs761956946 0.00001
NM_005534.4(IFNGR2):c.528T>C (p.Tyr176=) rs121913210 0.00001
NM_005534.4(IFNGR2):c.721+11C>T rs543201259 0.00001
NM_005534.4(IFNGR2):c.721+12C>T rs891715997 0.00001
NM_005534.4(IFNGR2):c.74-6C>T rs958584242 0.00001
NM_005534.4(IFNGR2):c.153A>T (p.Pro51=) rs745427628
NM_005534.4(IFNGR2):c.206+15_206+16del
NM_005534.4(IFNGR2):c.207-11T>C
NM_005534.4(IFNGR2):c.207-18T>C
NM_005534.4(IFNGR2):c.207-5C>G
NM_005534.4(IFNGR2):c.210C>T (p.Thr70=)
NM_005534.4(IFNGR2):c.228G>A (p.Thr76=)
NM_005534.4(IFNGR2):c.237C>T (p.Ile79=) rs2123348868
NM_005534.4(IFNGR2):c.279G>A (p.Glu93=)
NM_005534.4(IFNGR2):c.337C>T (p.Leu113=) rs121913200
NM_005534.4(IFNGR2):c.360A>G (p.Gly120=)
NM_005534.4(IFNGR2):c.412+10C>T
NM_005534.4(IFNGR2):c.413-15G>C
NM_005534.4(IFNGR2):c.413-18T>C
NM_005534.4(IFNGR2):c.413-9C>A
NM_005534.4(IFNGR2):c.420C>T (p.Val140=)
NM_005534.4(IFNGR2):c.465C>T (p.Leu155=) rs2083842693
NM_005534.4(IFNGR2):c.561+6A>C
NM_005534.4(IFNGR2):c.684T>C (p.His228=) rs1601092026
NM_005534.4(IFNGR2):c.721+10A>G
NM_005534.4(IFNGR2):c.74-7C>T rs762306543

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.