ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_005534.4(IFNGR2):c.37C>T (p.Leu13Phe) rs1012938610 0.00124
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.53C>T (p.Ala18Val) rs773932279 0.00013
NM_005534.4(IFNGR2):c.940G>A (p.Asp314Asn) rs369529404 0.00012
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.889G>A (p.Asp297Asn) rs121913219 0.00007
NM_005534.4(IFNGR2):c.8C>G (p.Pro3Arg) rs773084508 0.00007
NM_005534.4(IFNGR2):c.879+5G>A rs375538161 0.00006
NM_005534.4(IFNGR2):c.20_31dup (p.Leu10_Leu11insArgSerLeuLeu) rs1466765626 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.724T>A (p.Ser242Thr) rs145216430 0.00004
NM_005534.4(IFNGR2):c.764C>T (p.Thr255Ile) rs373582182 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.977C>T (p.Pro326Leu) rs202237583 0.00003
NM_005534.4(IFNGR2):c.757G>A (p.Val253Met) rs191792822 0.00002
NM_005534.4(IFNGR2):c.869A>C (p.Gln290Pro) rs143025663 0.00002
NM_005534.4(IFNGR2):c.879+4C>T rs770663375 0.00002
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.56C>T (p.Ala19Val) rs956427420 0.00001
NM_005534.4(IFNGR2):c.589A>T (p.Ile197Phe) rs749339064 0.00001
NM_005534.4(IFNGR2):c.58G>A (p.Ala20Thr) rs1176465152 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.946G>A (p.Val316Ile) rs766433285 0.00001
NM_005534.4(IFNGR2):c.949T>C (p.Trp317Arg) rs755201347 0.00001
NM_005534.4(IFNGR2):c.94G>A (p.Ala32Thr) rs772248868 0.00001
NM_005534.4(IFNGR2):c.971C>T (p.Ser324Leu) rs749163514 0.00001
NC_000021.8:g.(?_32439271)_(39212984_?)dup
NC_000021.8:g.(?_34638751)_(34809289_?)dup
NC_000021.8:g.(?_34799171)_(34809289_?)dup
NM_005534.4(IFNGR2):c.1006A>G (p.Thr336Ala) rs202122427
NM_005534.4(IFNGR2):c.1007C>G (p.Thr336Arg) rs763384272
NM_005534.4(IFNGR2):c.1007C>T (p.Thr336Met) rs763384272
NM_005534.4(IFNGR2):c.1013G>C (p.Ter338Ser)
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.19T>C (p.Trp7Arg)
NM_005534.4(IFNGR2):c.19_36dup (p.Leu12_Leu13insTrpSerLeuLeuLeuLeu)
NM_005534.4(IFNGR2):c.227C>T (p.Thr76Met) rs1208240776
NM_005534.4(IFNGR2):c.24GCT[6] (p.Leu13dup) rs753866192
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.48CGC[1] (p.Ala19_Ala22del) rs765468464
NM_005534.4(IFNGR2):c.48CGC[2] (p.Ala20_Ala22del) rs765468464
NM_005534.4(IFNGR2):c.48CGC[3] (p.Ala21_Ala22del) rs765468464
NM_005534.4(IFNGR2):c.48CGC[6] (p.Ala22dup) rs765468464
NM_005534.4(IFNGR2):c.48CGC[7] (p.Ala22_Pro23insAlaAla)
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.65C>T (p.Ala22Val) rs1555878402
NM_005534.4(IFNGR2):c.705C>T (p.Tyr235=)
NM_005534.4(IFNGR2):c.706G>A (p.Glu236Lys)
NM_005534.4(IFNGR2):c.761G>A (p.Gly254Glu)
NM_005534.4(IFNGR2):c.761G>T (p.Gly254Val)
NM_005534.4(IFNGR2):c.788C>T (p.Ala263Val) rs2083902202
NM_005534.4(IFNGR2):c.791G>A (p.Gly264Glu) rs2083902242
NM_005534.4(IFNGR2):c.802T>C (p.Phe268Leu) rs2123370275
NM_005534.4(IFNGR2):c.80T>C (p.Leu27Pro) rs2123339140
NM_005534.4(IFNGR2):c.824G>T (p.Gly275Val)
NM_005534.4(IFNGR2):c.83C>T (p.Ser28Phe) rs2083743038
NM_005534.4(IFNGR2):c.914C>T (p.Ala305Val) rs893539360
NM_005534.4(IFNGR2):c.934C>T (p.Pro312Ser) rs2123384586
NM_005534.4(IFNGR2):c.958G>C (p.Val320Leu)
NM_005534.4(IFNGR2):c.990AGA[1] (p.Glu331del) rs760530034

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