List of variants in gene IFNGR2 studied for autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 106

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HGVS	dbSNP	gnomAD frequency
NM_005534.4(IFNGR2):c.561+11C>G	rs11910627	0.77154
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.708A>T (p.Glu236Asp)	rs121913212	0.00235
NM_005534.4(IFNGR2):c.466A>C (p.Ile156Leu)	rs121913208	0.00206
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.595T>C (p.Leu199=)	rs149173957	0.00044
NM_005534.4(IFNGR2):c.231C>T (p.Ala77=)	rs150137842	0.00029
NM_005534.4(IFNGR2):c.308C>T (p.Ala103Val)	rs139212989	0.00026
NM_005534.4(IFNGR2):c.312C>T (p.Gly104=)	rs142325229	0.00021
NM_005534.4(IFNGR2):c.319A>G (p.Met107Val)	rs756119057	0.00021
NM_005534.4(IFNGR2):c.90G>A (p.Leu30=)	rs546201964	0.00020
NM_005534.4(IFNGR2):c.234C>T (p.Asp78=)	rs138717312	0.00010
NM_005534.4(IFNGR2):c.347G>A (p.Arg116Gln)	rs760780330	0.00010
NM_005534.4(IFNGR2):c.616A>G (p.Arg206Gly)	rs147894635	0.00010
NM_005534.4(IFNGR2):c.139C>T (p.Leu47=)	rs368952126	0.00009
NM_005534.4(IFNGR2):c.524A>G (p.Tyr175Cys)	rs368333636	0.00008
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.451G>A (p.Gly151Arg)	rs902362680	0.00004
NM_005534.4(IFNGR2):c.496G>A (p.Ala166Thr)	rs552291982	0.00004
NM_005534.4(IFNGR2):c.532C>T (p.His178Tyr)	rs769963583	0.00004
NM_005534.4(IFNGR2):c.533A>G (p.His178Arg)	rs115346998	0.00004
NM_005534.4(IFNGR2):c.665A>T (p.Asn222Ile)	rs201843430	0.00004
NM_005534.4(IFNGR2):c.115C>T (p.Arg39Cys)	rs572786148	0.00003
NM_005534.4(IFNGR2):c.116G>A (p.Arg39His)	rs755959582	0.00003
NM_005534.4(IFNGR2):c.174G>A (p.Thr58=)	rs562561420	0.00003
NM_005534.4(IFNGR2):c.436A>G (p.Ile146Val)	rs776581325	0.00003
NM_005534.4(IFNGR2):c.442G>A (p.Val148Met)	rs766274599	0.00003
NM_005534.4(IFNGR2):c.484C>T (p.Pro162Ser)	rs755628412	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.232G>A (p.Asp78Asn)	rs760048640	0.00001
NM_005534.4(IFNGR2):c.239T>C (p.Met80Thr)	rs775577939	0.00001
NM_005534.4(IFNGR2):c.255T>C (p.Asn85=)	rs757139767	0.00001
NM_005534.4(IFNGR2):c.277G>C (p.Glu93Gln)	rs1287012312	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.589A>T (p.Ile197Phe)	rs749339064	0.00001
NM_005534.4(IFNGR2):c.610C>T (p.Pro204Ser)	rs963619980	0.00001
NM_005534.4(IFNGR2):c.668T>C (p.Ile223Thr)	rs764922061	0.00001
NM_005534.4(IFNGR2):c.718G>C (p.Asp240His)	rs369753667	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.91C>T (p.Pro31Ser)	rs750951592	0.00001
NM_005534.4(IFNGR2):c.94G>A (p.Ala32Thr)	rs772248868	0.00001
NM_005534.4(IFNGR2):c.127G>A (p.Ala43Thr)
NM_005534.4(IFNGR2):c.153A>T (p.Pro51=)	rs745427628
NM_005534.4(IFNGR2):c.166A>G (p.Asn56Asp)	rs2123339315
NM_005534.4(IFNGR2):c.188A>G (p.Tyr63Cys)
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.227C>T (p.Thr76Met)	rs1208240776
NM_005534.4(IFNGR2):c.228G>A (p.Thr76=)
NM_005534.4(IFNGR2):c.237C>T (p.Ile79=)	rs2123348868
NM_005534.4(IFNGR2):c.278_279del (p.Glu93fs)	rs587776822
NM_005534.4(IFNGR2):c.279G>A (p.Glu93=)
NM_005534.4(IFNGR2):c.295G>A (p.Ala99Thr)
NM_005534.4(IFNGR2):c.298A>G (p.Ser100Gly)	rs2123349022
NM_005534.4(IFNGR2):c.337C>T (p.Leu113=)	rs121913200
NM_005534.4(IFNGR2):c.360A>G (p.Gly120=)
NM_005534.4(IFNGR2):c.361G>C (p.Ala121Pro)	rs776967196
NM_005534.4(IFNGR2):c.374C>A (p.Ala125Asp)
NM_005534.4(IFNGR2):c.382_387dup (p.Thr128_Met129dup)	rs398122890
NM_005534.4(IFNGR2):c.406C>T (p.Arg136Trp)	rs1320302979
NM_005534.4(IFNGR2):c.407G>A (p.Arg136Gln)	rs979344163
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.437T>A (p.Ile146Asn)	rs188848981
NM_005534.4(IFNGR2):c.437T>C (p.Ile146Thr)
NM_005534.4(IFNGR2):c.454G>C (p.Glu152Gln)	rs936531276
NM_005534.4(IFNGR2):c.463C>G (p.Leu155Val)	rs1211518898
NM_005534.4(IFNGR2):c.465C>T (p.Leu155=)	rs2083842693
NM_005534.4(IFNGR2):c.503C>A (p.Thr168Asn)	rs74315444
NM_005534.4(IFNGR2):c.503_504del (p.Thr168fs)	rs1319389333
NM_005534.4(IFNGR2):c.509C>T (p.Thr170Met)
NM_005534.4(IFNGR2):c.514T>A (p.Phe172Ile)	rs375419913
NM_005534.4(IFNGR2):c.514T>G (p.Phe172Val)
NM_005534.4(IFNGR2):c.553A>C (p.Ile185Leu)
NM_005534.4(IFNGR2):c.561+6A>C
NM_005534.4(IFNGR2):c.568G>C (p.Gly190Arg)
NM_005534.4(IFNGR2):c.569G>A (p.Gly190Asp)
NM_005534.4(IFNGR2):c.663_689del (p.Phe224_Ile232del)	rs587776823
NM_005534.4(IFNGR2):c.684T>C (p.His228=)	rs1601092026
NM_005534.4(IFNGR2):c.705C>T (p.Tyr235=)
NM_005534.4(IFNGR2):c.706G>A (p.Glu236Lys)
NM_005534.4(IFNGR2):c.709dup (p.Thr237fs)	rs2123368937
NM_005534.4(IFNGR2):c.721+10A>G
NM_005534.4(IFNGR2):c.74-6dup
NM_005534.4(IFNGR2):c.74-7C>T	rs762306543
NM_005534.4(IFNGR2):c.80T>C (p.Leu27Pro)	rs2123339140
NM_005534.4(IFNGR2):c.83C>T (p.Ser28Phe)	rs2083743038

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