ClinVar Miner

List of variants studied for Immunodeficiency 28

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Total variants: 202
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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.708A>T (p.Glu236Asp) rs121913212 0.00235
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.37C>T (p.Leu13Phe) rs1012938610 0.00124
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+15A>G rs372109363 0.00073
NM_005534.4(IFNGR2):c.879+19del rs193922682 0.00070
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.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.756C>T (p.Ser252=) rs186369364 0.00021
NM_005534.4(IFNGR2):c.90G>A (p.Leu30=) rs546201964 0.00020
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.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.889G>A (p.Asp297Asn) rs121913219 0.00007
NM_005534.4(IFNGR2):c.8C>G (p.Pro3Arg) rs773084508 0.00007
NM_005534.4(IFNGR2):c.417T>G (p.Thr139=) rs747498076 0.00006
NM_005534.4(IFNGR2):c.879+5G>A rs375538161 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.20_31dup (p.Leu10_Leu11insArgSerLeuLeu) rs1466765626 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.724T>A (p.Ser242Thr) rs145216430 0.00004
NM_005534.4(IFNGR2):c.764C>T (p.Thr255Ile) rs373582182 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.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.977C>T (p.Pro326Leu) rs202237583 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.757G>A (p.Val253Met) rs191792822 0.00002
NM_005534.4(IFNGR2):c.795C>T (p.Ala265=) rs566154275 0.00002
NM_005534.4(IFNGR2):c.869A>C (p.Gln290Pro) rs143025663 0.00002
NM_005534.4(IFNGR2):c.879+17C>A rs1386597042 0.00002
NM_005534.4(IFNGR2):c.879+4C>T rs770663375 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.1A>G (p.Met1Val) rs1316638883 0.00001
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.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.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.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.13C>T (p.Leu5=)
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.16C>T (p.Leu6=) rs2123322462
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.1A>C (p.Met1Leu) rs1316638883
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.24GCT[6] (p.Leu13dup) rs753866192
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.45C>G (p.Val15=) rs2123322539
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.48C>T (p.Phe16=)
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.4del (p.Arg2fs) rs2083655919
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.65C>T (p.Ala22Val) rs1555878402
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.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.74-6dup
NM_005534.4(IFNGR2):c.74-7C>T rs762306543
NM_005534.4(IFNGR2):c.761G>A (p.Gly254Glu)
NM_005534.4(IFNGR2):c.761G>T (p.Gly254Val)
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.788C>T (p.Ala263Val) rs2083902202
NM_005534.4(IFNGR2):c.791G>A (p.Gly264Glu) rs2083902242
NM_005534.4(IFNGR2):c.800del (p.Phe267fs) rs2123370265
NM_005534.4(IFNGR2):c.802T>C (p.Phe268Leu) rs2123370275
NM_005534.4(IFNGR2):c.805C>T (p.Leu269=)
NM_005534.4(IFNGR2):c.80T>C (p.Leu27Pro) rs2123339140
NM_005534.4(IFNGR2):c.811C>T (p.Leu271=)
NM_005534.4(IFNGR2):c.824G>T (p.Gly275Val)
NM_005534.4(IFNGR2):c.828G>A (p.Leu276=)
NM_005534.4(IFNGR2):c.83C>T (p.Ser28Phe) rs2083743038
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+18dup rs201322939
NM_005534.4(IFNGR2):c.879+19_879+20del rs750203174
NM_005534.4(IFNGR2):c.879+19_879+21del rs753453319
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
NM_005534.4(IFNGR2):c.914C>T (p.Ala305Val) rs893539360
NM_005534.4(IFNGR2):c.918G>A (p.Leu306=)
NM_005534.4(IFNGR2):c.934C>T (p.Pro312Ser) rs2123384586
NM_005534.4(IFNGR2):c.958G>C (p.Val320Leu)
NM_005534.4(IFNGR2):c.972G>A (p.Ser324=)
NM_005534.4(IFNGR2):c.990AGA[1] (p.Glu331del) rs760530034
NM_005534.4(IFNGR2):c.9G>A (p.Pro3=) rs762420616

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