ClinVar Miner

List of variants reported as likely benign for autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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.879+15A>G rs372109363 0.00073
NM_005534.4(IFNGR2):c.595T>C (p.Leu199=) rs149173957 0.00044
NM_005534.4(IFNGR2):c.939G>A (p.Lys313=) rs138655852 0.00031
NM_005534.4(IFNGR2):c.312C>T (p.Gly104=) rs142325229 0.00021
NM_005534.4(IFNGR2):c.756C>T (p.Ser252=) rs186369364 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.771G>A (p.Ser257=) rs115458101 0.00005
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.779C>T (p.Ser260Leu) rs116536727 0.00004
NM_005534.4(IFNGR2):c.780G>A (p.Ser260=) rs121913217 0.00004
NM_005534.4(IFNGR2):c.1008G>A (p.Thr336=) rs121913221 0.00003
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.9G>C (p.Pro3=) rs762420616 0.00003
NM_005534.4(IFNGR2):c.51C>T (p.Ala17=) rs1450348387 0.00002
NM_005534.4(IFNGR2):c.722-8C>G rs376105280 0.00002
NM_005534.4(IFNGR2):c.73+10G>T rs990250212 0.00002
NM_005534.4(IFNGR2):c.795C>T (p.Ala265=) rs566154275 0.00002
NM_005534.4(IFNGR2):c.879+17C>A rs1386597042 0.00002
NM_005534.4(IFNGR2):c.945C>T (p.Asp315=) rs1802585 0.00002
NM_005534.4(IFNGR2):c.957T>C (p.Ser319=) rs141705742 0.00002
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.73+8G>T rs767210895 0.00001
NM_005534.4(IFNGR2):c.74-6C>T rs958584242 0.00001
NM_005534.4(IFNGR2):c.774G>A (p.Leu258=) rs1280277219 0.00001
NM_005534.4(IFNGR2):c.13C>T (p.Leu5=)
NM_005534.4(IFNGR2):c.153A>T (p.Pro51=) rs745427628
NM_005534.4(IFNGR2):c.16C>T (p.Leu6=) rs2123322462
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.45C>G (p.Val15=) rs2123322539
NM_005534.4(IFNGR2):c.465C>T (p.Leu155=) rs2083842693
NM_005534.4(IFNGR2):c.48C>T (p.Phe16=)
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.722-10C>T
NM_005534.4(IFNGR2):c.73+10del
NM_005534.4(IFNGR2):c.73+7C>T
NM_005534.4(IFNGR2):c.73+8G>A rs767210895
NM_005534.4(IFNGR2):c.73+9G>C
NM_005534.4(IFNGR2):c.74-7C>T rs762306543
NM_005534.4(IFNGR2):c.768T>C (p.Phe256=)
NM_005534.4(IFNGR2):c.780G>C (p.Ser260=) rs121913217
NM_005534.4(IFNGR2):c.786G>A (p.Leu262=)
NM_005534.4(IFNGR2):c.805C>T (p.Leu269=)
NM_005534.4(IFNGR2):c.811C>T (p.Leu271=)
NM_005534.4(IFNGR2):c.828G>A (p.Leu276=)
NM_005534.4(IFNGR2):c.849T>C (p.Thr283=)
NM_005534.4(IFNGR2):c.879+17C>G rs1386597042
NM_005534.4(IFNGR2):c.879+18_879+19insTT rs201322939
NM_005534.4(IFNGR2):c.879+19_879+21del rs753453319
NM_005534.4(IFNGR2):c.918G>A (p.Leu306=)
NM_005534.4(IFNGR2):c.972G>A (p.Ser324=)
NM_005534.4(IFNGR2):c.9G>A (p.Pro3=) rs762420616

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.