ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp) rs121913212 0.00235
NM_005534.4(IFNGR2):c.308C>T (p.Ala103Val) rs139212989 0.00026
NM_005534.4(IFNGR2):c.319A>G (p.Met107Val) rs756119057 0.00021
NM_005534.4(IFNGR2):c.347G>A (p.Arg116Gln) rs760780330 0.00010
NM_005534.4(IFNGR2):c.616A>G (p.Arg206Gly) rs147894635 0.00009
NM_005534.4(IFNGR2):c.524A>G (p.Tyr175Cys) rs368333636 0.00008
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.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.232G>A (p.Asp78Asn) rs760048640 0.00001
NM_005534.4(IFNGR2):c.239T>C (p.Met80Thr) rs775577939 0.00001
NM_005534.4(IFNGR2):c.277G>C (p.Glu93Gln) rs1287012312 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.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.166A>G (p.Asn56Asp) rs2123339315
NM_005534.4(IFNGR2):c.188A>G (p.Tyr63Cys)
NM_005534.4(IFNGR2):c.227C>T (p.Thr76Met) rs1208240776
NM_005534.4(IFNGR2):c.295G>A (p.Ala99Thr)
NM_005534.4(IFNGR2):c.298A>G (p.Ser100Gly) rs2123349022
NM_005534.4(IFNGR2):c.361G>C (p.Ala121Pro) rs776967196
NM_005534.4(IFNGR2):c.374C>A (p.Ala125Asp)
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.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.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.568G>C (p.Gly190Arg)
NM_005534.4(IFNGR2):c.569G>A (p.Gly190Asp)
NM_005534.4(IFNGR2):c.705C>T (p.Tyr235=)
NM_005534.4(IFNGR2):c.706G>A (p.Glu236Lys)
NM_005534.4(IFNGR2):c.80T>C (p.Leu27Pro) rs2123339140
NM_005534.4(IFNGR2):c.83C>T (p.Ser28Phe) rs2083743038

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