ClinVar Miner

List of variants reported as benign for Immunodeficiency 28

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005534.4(IFNGR2):c.561+11C>G rs11910627 0.77154
NM_005534.4(IFNGR2):c.879+19C>T rs17883129 0.37206
NM_005534.4(IFNGR2):c.191A>G (p.Gln64Arg) rs9808753 0.17239
NM_005534.4(IFNGR2):c.173C>G (p.Thr58Arg) rs4986958 0.04587
NM_005534.4(IFNGR2):c.721+7T>C rs41351148 0.01141
NM_005534.4(IFNGR2):c.544A>G (p.Lys182Glu) rs17878711 0.01107
NM_005534.4(IFNGR2):c.466A>C (p.Ile156Leu) rs121913208 0.00206
NM_005534.4(IFNGR2):c.978G>A (p.Pro326=) rs17885407 0.00181
NM_005534.4(IFNGR2):c.984G>A (p.Lys328=) rs121913220 0.00141
NM_005534.4(IFNGR2):c.439G>A (p.Glu147Lys) rs17878639 0.00115
NM_005534.4(IFNGR2):c.73+16G>A rs571968917 0.00112
NM_005534.4(IFNGR2):c.879+19del rs193922682 0.00070
NM_005534.4(IFNGR2):c.231C>T (p.Ala77=) rs150137842 0.00029
NM_005534.4(IFNGR2):c.234C>T (p.Asp78=) rs138717312 0.00010
NM_005534.4(IFNGR2):c.879+18dup rs201322939
NM_005534.4(IFNGR2):c.879+19_879+20del rs750203174
NM_005534.4(IFNGR2):c.879+31_879+32dup rs143248516
NM_005534.4(IFNGR2):c.879+32del rs143248516
NM_005534.4(IFNGR2):c.879+32dup rs143248516

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.