ClinVar Miner

List of variants in gene IL2RG reported as likely benign for X-linked severe combined immunodeficiency

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Gene type:
ClinVar version:
Total variants: 166
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HGVS dbSNP gnomAD frequency
NM_000206.3(IL2RG):c.325G>A (p.Glu109Lys) rs17875899 0.00059
NM_000206.3(IL2RG):c.282G>A (p.Ser94=) rs142807857 0.00039
NM_000206.3(IL2RG):c.618T>A (p.His206Gln) rs761647770 0.00015
NM_000206.3(IL2RG):c.269+14C>T rs7879765 0.00012
NM_000206.3(IL2RG):c.1002G>A (p.Glu334=) rs376679881 0.00011
NM_000206.3(IL2RG):c.912C>T (p.His304=) rs145282692 0.00010
NM_000206.3(IL2RG):c.1042G>A (p.Ala348Thr) rs140216601 0.00009
NM_000206.3(IL2RG):c.459C>T (p.Ile153=) rs150560580 0.00009
NM_000206.3(IL2RG):c.855-8C>T rs372985214 0.00009
NM_000206.3(IL2RG):c.438A>G (p.Leu146=) rs764216497 0.00007
NM_000206.3(IL2RG):c.759G>T (p.Glu253Asp) rs200239526 0.00007
NM_000206.3(IL2RG):c.504C>T (p.Ser168=) rs752921124 0.00006
NM_000206.3(IL2RG):c.754A>G (p.Lys252Glu) rs765748584 0.00006
NM_000206.3(IL2RG):c.130A>G (p.Thr44Ala) rs7885041 0.00005
NM_000206.3(IL2RG):c.332T>C (p.Ile111Thr) rs778229878 0.00005
NM_000206.3(IL2RG):c.786C>T (p.Ala262=) rs374370835 0.00005
NM_000206.3(IL2RG):c.1105A>G (p.Thr369Ala) rs374270413 0.00004
NM_000206.3(IL2RG):c.1077C>A (p.Ala359=) rs772150263 0.00003
NM_000206.3(IL2RG):c.281C>T (p.Ser94Leu) rs775704953 0.00003
NM_000206.3(IL2RG):c.339T>C (p.Ser113=) rs941308764 0.00003
NM_000206.3(IL2RG):c.396C>T (p.Leu132=) rs201840981 0.00003
NM_000206.3(IL2RG):c.708T>C (p.His236=) rs750844357 0.00003
NM_000206.3(IL2RG):c.822C>T (p.Ile274=) rs768058067 0.00003
NM_000206.3(IL2RG):c.1061A>G (p.His354Arg) rs771221019 0.00002
NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val) rs767383120 0.00002
NM_000206.3(IL2RG):c.174A>G (p.Pro58=) rs375735883 0.00002
NM_000206.3(IL2RG):c.201C>T (p.Val67=) rs756100347 0.00002
NM_000206.3(IL2RG):c.294A>G (p.Lys98=) rs2092261604 0.00002
NM_000206.3(IL2RG):c.327A>G (p.Glu109=) rs772713987 0.00002
NM_000206.3(IL2RG):c.454+5T>C rs758702784 0.00002
NM_000206.3(IL2RG):c.455-10A>G rs748820536 0.00002
NM_000206.3(IL2RG):c.455-8A>G rs781649645 0.00002
NM_000206.3(IL2RG):c.494T>G (p.Leu165Arg) rs758693125 0.00002
NM_000206.3(IL2RG):c.855-16C>T rs752525322 0.00002
NM_000206.3(IL2RG):c.855-9C>T rs764935731 0.00002
NM_000206.3(IL2RG):c.925-4T>C rs758393948 0.00002
NM_000206.3(IL2RG):c.953C>T (p.Ala318Val) rs370007902 0.00002
NM_000206.3(IL2RG):c.963G>A (p.Leu321=) rs181901993 0.00002
NM_000206.3(IL2RG):c.1066C>T (p.Pro356Ser) rs760735556 0.00001
NM_000206.3(IL2RG):c.1080C>T (p.Pro360=) rs748015056 0.00001
NM_000206.3(IL2RG):c.270-8T>C rs1373165172 0.00001
NM_000206.3(IL2RG):c.311A>T (p.His104Leu) rs770804846 0.00001
NM_000206.3(IL2RG):c.366C>T (p.Ile122=) rs746308376 0.00001
NM_000206.3(IL2RG):c.406C>T (p.Arg136Trp) rs758080286 0.00001
NM_000206.3(IL2RG):c.434T>A (p.Met145Lys) rs751970923 0.00001
NM_000206.3(IL2RG):c.454+19G>A rs1427562119 0.00001
NM_000206.3(IL2RG):c.455-4C>T rs757827108 0.00001
NM_000206.3(IL2RG):c.594+17G>A rs1005449113 0.00001
NM_000206.3(IL2RG):c.594+7G>A rs1351674205 0.00001
NM_000206.3(IL2RG):c.660G>A (p.Thr220=) rs1418438406 0.00001
NM_000206.3(IL2RG):c.702T>C (p.Ala234=) rs769253412 0.00001
NM_000206.3(IL2RG):c.743G>A (p.Ser248Asn) rs748539696 0.00001
NM_000206.3(IL2RG):c.758-19G>T rs1270559875 0.00001
NM_000206.3(IL2RG):c.758-4A>G rs781154927 0.00001
NM_000206.3(IL2RG):c.758-8T>C rs750518545 0.00001
NM_000206.3(IL2RG):c.798T>C (p.Ser266=) rs764914063 0.00001
NM_000206.3(IL2RG):c.799G>A (p.Val267Ile) rs759051897 0.00001
NM_000206.3(IL2RG):c.816G>A (p.Leu272=) rs1272158575 0.00001
NM_000206.3(IL2RG):c.888A>G (p.Leu296=) rs1409653685 0.00001
NM_000206.3(IL2RG):c.924+9G>T rs1198550634 0.00001
NM_000206.3(IL2RG):c.927C>T (p.Ala309=) rs1324352273 0.00001
NM_000206.3(IL2RG):c.961C>T (p.Leu321=) rs1274437223 0.00001
NM_000206.3(IL2RG):c.977G>A (p.Ser326Asn) rs779190567 0.00001
NM_000206.3(IL2RG):c.1008C>T (p.Pro336=) rs2092253805
NM_000206.3(IL2RG):c.1035G>T (p.Gly345=)
NM_000206.3(IL2RG):c.1041G>T (p.Gly347=)
NM_000206.3(IL2RG):c.1045T>G (p.Ser349Ala)
NM_000206.3(IL2RG):c.1048C>T (p.Pro350Ser)
NM_000206.3(IL2RG):c.1059G>A (p.Gln353=) rs2147745813
NM_000206.3(IL2RG):c.1077C>G (p.Ala359=) rs772150263
NM_000206.3(IL2RG):c.1077C>T (p.Ala359=) rs772150263
NM_000206.3(IL2RG):c.1080C>A (p.Pro360=) rs748015056
NM_000206.3(IL2RG):c.1089C>T (p.Tyr363=)
NM_000206.3(IL2RG):c.1091C>A (p.Thr364Asn)
NM_000206.3(IL2RG):c.1092C>A (p.Thr364=)
NM_000206.3(IL2RG):c.1098G>A (p.Lys366=) rs2147745670
NM_000206.3(IL2RG):c.1107C>T (p.Thr369=)
NM_000206.3(IL2RG):c.138C>T (p.Pro46=) rs1393929587
NM_000206.3(IL2RG):c.147C>T (p.Ser49=)
NM_000206.3(IL2RG):c.204G>A (p.Glu68=)
NM_000206.3(IL2RG):c.207C>T (p.Tyr69=)
NM_000206.3(IL2RG):c.216C>T (p.Cys72=)
NM_000206.3(IL2RG):c.219T>A (p.Thr73=)
NM_000206.3(IL2RG):c.231C>T (p.Ser77=) rs1556330951
NM_000206.3(IL2RG):c.249C>T (p.Thr83=) rs2147750887
NM_000206.3(IL2RG):c.258T>G (p.Thr86=)
NM_000206.3(IL2RG):c.261G>T (p.Leu87=) rs2147750860
NM_000206.3(IL2RG):c.267T>C (p.Tyr89=) rs2147750855
NM_000206.3(IL2RG):c.269+11G>C
NM_000206.3(IL2RG):c.269+15G>A rs2092262251
NM_000206.3(IL2RG):c.269+16del
NM_000206.3(IL2RG):c.269+17G>C
NM_000206.3(IL2RG):c.269+18G>C
NM_000206.3(IL2RG):c.270-11T>C
NM_000206.3(IL2RG):c.270-15A>T rs886039387
NM_000206.3(IL2RG):c.270-4C>G
NM_000206.3(IL2RG):c.270-7C>G
NM_000206.3(IL2RG):c.270-7C>T
NM_000206.3(IL2RG):c.279C>T (p.Asn93=)
NM_000206.3(IL2RG):c.316C>T (p.Leu106=) rs2092261547
NM_000206.3(IL2RG):c.318A>G (p.Leu106=) rs1389116834
NM_000206.3(IL2RG):c.333C>A (p.Ile111=)
NM_000206.3(IL2RG):c.333C>G (p.Ile111Met) rs1373609177
NM_000206.3(IL2RG):c.333C>T (p.Ile111=)
NM_000206.3(IL2RG):c.363G>A (p.Glu121=)
NM_000206.3(IL2RG):c.369C>T (p.His123=) rs2092261325
NM_000206.3(IL2RG):c.381A>C (p.Thr127=) rs970632466
NM_000206.3(IL2RG):c.381A>G (p.Thr127=) rs970632466
NM_000206.3(IL2RG):c.405A>C (p.Pro135=)
NM_000206.3(IL2RG):c.454+18G>C
NM_000206.3(IL2RG):c.455-13C>T
NM_000206.3(IL2RG):c.455-17T>G rs768114423
NM_000206.3(IL2RG):c.455-19T>C
NM_000206.3(IL2RG):c.471A>C (p.Pro157=)
NM_000206.3(IL2RG):c.504C>G (p.Ser168=)
NM_000206.3(IL2RG):c.555C>T (p.His185=)
NM_000206.3(IL2RG):c.564G>A (p.Gln188=)
NM_000206.3(IL2RG):c.576C>T (p.Asp192=) rs1378747798
NM_000206.3(IL2RG):c.594+10T>G
NM_000206.3(IL2RG):c.594+7G>T rs1351674205
NM_000206.3(IL2RG):c.594+9C>G rs1243040134
NM_000206.3(IL2RG):c.595-11T>C
NM_000206.3(IL2RG):c.595-17T>C
NM_000206.3(IL2RG):c.609T>C (p.Asp203=)
NM_000206.3(IL2RG):c.672G>A (p.Arg224=)
NM_000206.3(IL2RG):c.678C>T (p.Arg226=) rs2147748213
NM_000206.3(IL2RG):c.687A>G (p.Pro229=)
NM_000206.3(IL2RG):c.726C>T (p.His242=)
NM_000206.3(IL2RG):c.741G>A (p.Gly247=) rs2147748101
NM_000206.3(IL2RG):c.753A>T (p.Ser251=) rs2147748094
NM_000206.3(IL2RG):c.757+11C>G
NM_000206.3(IL2RG):c.757+9G>A rs2147748084
NM_000206.3(IL2RG):c.758-10T>G rs2147747527
NM_000206.3(IL2RG):c.758-13C>A
NM_000206.3(IL2RG):c.758-13C>G
NM_000206.3(IL2RG):c.758-14T>C
NM_000206.3(IL2RG):c.765T>C (p.Pro255=)
NM_000206.3(IL2RG):c.774T>C (p.Phe258=)
NM_000206.3(IL2RG):c.777A>G (p.Ala259=) rs1355288626
NM_000206.3(IL2RG):c.804C>T (p.Gly268=) rs2147747411
NM_000206.3(IL2RG):c.814T>C (p.Leu272=) rs2092256405
NM_000206.3(IL2RG):c.832T>C (p.Cys278Arg) rs2147747335
NM_000206.3(IL2RG):c.854+11G>C
NM_000206.3(IL2RG):c.854+15A>G rs2147747283
NM_000206.3(IL2RG):c.854+16G>A
NM_000206.3(IL2RG):c.855-10C>A rs2147746856
NM_000206.3(IL2RG):c.855-18C>T
NM_000206.3(IL2RG):c.855-19C>T
NM_000206.3(IL2RG):c.855-20C>T
NM_000206.3(IL2RG):c.855-5G>A
NM_000206.3(IL2RG):c.855-5G>C
NM_000206.3(IL2RG):c.855-5G>T
NM_000206.3(IL2RG):c.855-7_855-6del
NM_000206.3(IL2RG):c.855-8C>G
NM_000206.3(IL2RG):c.865C>A (p.Arg289=) rs137852508
NM_000206.3(IL2RG):c.924+10C>G rs2147746639
NM_000206.3(IL2RG):c.924+10C>T
NM_000206.3(IL2RG):c.924+12G>T
NM_000206.3(IL2RG):c.924+8C>A
NM_000206.3(IL2RG):c.924+8C>G rs776065933
NM_000206.3(IL2RG):c.924+8C>T rs776065933
NM_000206.3(IL2RG):c.925-8G>A
NM_000206.3(IL2RG):c.925-8G>C rs1216156279
NM_000206.3(IL2RG):c.969A>T (p.Pro323=)
NM_000206.3(IL2RG):c.982C>A (p.Arg328=) rs1064793347
NM_000206.3(IL2RG):c.993C>T (p.Leu331=) rs2147745985

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