ClinVar Miner

List of variants studied for T-B+ severe combined immunodeficiency due to gamma chain deficiency by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 367
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000206.3(IL2RG):c.858G>A (p.Thr286=) rs148001866 0.00189
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.78A>T (p.Thr26=) rs147424359 0.00023
NM_000206.3(IL2RG):c.618T>A (p.His206Gln) rs761647770 0.00015
NM_000206.3(IL2RG):c.857C>T (p.Thr286Met) rs767758983 0.00014
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.51C>T (p.Pro17=) rs773483114 0.00009
NM_000206.3(IL2RG):c.855-8C>T rs372985214 0.00009
NM_000206.3(IL2RG):c.86C>T (p.Thr29Met) rs375921454 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.92A>G (p.Asn31Ser) rs749977756 0.00007
NM_000206.3(IL2RG):c.504C>T (p.Ser168=) rs752921124 0.00006
NM_000206.3(IL2RG):c.659C>T (p.Thr220Met) rs374102717 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.74C>T (p.Thr25Met) rs751455361 0.00005
NM_000206.3(IL2RG):c.761A>T (p.Asn254Ile) rs368726465 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.269+17G>A rs746420476 0.00004
NM_000206.3(IL2RG):c.607G>A (p.Asp203Asn) rs987981899 0.00004
NM_000206.3(IL2RG):c.653G>A (p.Arg218His) rs763721645 0.00004
NM_000206.3(IL2RG):c.758-16T>C rs748876814 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.511G>C (p.Glu171Gln) rs763359860 0.00003
NM_000206.3(IL2RG):c.514C>A (p.Leu172Met) rs141707292 0.00003
NM_000206.3(IL2RG):c.69G>A (p.Leu23=) rs748252421 0.00003
NM_000206.3(IL2RG):c.708T>C (p.His236=) rs750844357 0.00003
NM_000206.3(IL2RG):c.821T>C (p.Ile274Thr) rs370677485 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.116-5T>G rs754256514 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.226A>G (p.Ser76Gly) rs745652226 0.00002
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu) rs776710796 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.407G>A (p.Arg136Gln) rs753502444 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.75G>A (p.Thr25=) rs754951792 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.866G>A (p.Arg289Gln) rs774953764 0.00002
NM_000206.3(IL2RG):c.87G>A (p.Thr29=) rs779772745 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.967C>G (p.Pro323Ala) rs974329997 0.00002
NM_000206.3(IL2RG):c.975C>T (p.Tyr325=) rs755664130 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.1081C>A (p.Pro361Thr) rs778943977 0.00001
NM_000206.3(IL2RG):c.159C>T (p.Ser53=) rs762084352 0.00001
NM_000206.3(IL2RG):c.270-8T>C rs1373165172 0.00001
NM_000206.3(IL2RG):c.280T>A (p.Ser94Thr) rs201187311 0.00001
NM_000206.3(IL2RG):c.311A>T (p.His104Leu) rs770804846 0.00001
NM_000206.3(IL2RG):c.348G>T (p.Gln116His) rs778547446 0.00001
NM_000206.3(IL2RG):c.366C>T (p.Ile122=) rs746308376 0.00001
NM_000206.3(IL2RG):c.37T>C (p.Phe13Leu) rs1015272346 0.00001
NM_000206.3(IL2RG):c.406C>T (p.Arg136Trp) rs758080286 0.00001
NM_000206.3(IL2RG):c.412C>T (p.Pro138Ser) rs1266997803 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.553C>T (p.His185Tyr) rs1477944387 0.00001
NM_000206.3(IL2RG):c.556T>G (p.Leu186Val) rs1482339326 0.00001
NM_000206.3(IL2RG):c.567C>T (p.Tyr189=) rs773342053 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.600A>C (p.Gln200His) rs767379303 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.739G>A (p.Gly247Arg) rs745952883 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
NC_000023.10:g.(?_70327586)_(70683896_?)dup
NC_000023.10:g.(?_70328107)_(70328216_?)del
NC_000023.10:g.(?_70330774)_(70331695_?)del
NC_000023.11:g.(?_71108277)_(71108346_?)del
NC_000023.11:g.71111644G>T
NM_000206.2(IL2RG):c.-105C>T rs1396169268
NM_000206.3(IL2RG):c.*307_*308del rs2147745220
NM_000206.3(IL2RG):c.1008C>T (p.Pro336=) rs2092253805
NM_000206.3(IL2RG):c.100G>T (p.Glu34Ter) rs1556331272
NM_000206.3(IL2RG):c.1010C>A (p.Pro337Gln)
NM_000206.3(IL2RG):c.1035G>T (p.Gly345=)
NM_000206.3(IL2RG):c.1041G>T (p.Gly347=)
NM_000206.3(IL2RG):c.1043C>T (p.Ala348Val)
NM_000206.3(IL2RG):c.1045T>G (p.Ser349Ala)
NM_000206.3(IL2RG):c.1046C>T (p.Ser349Phe)
NM_000206.3(IL2RG):c.1048C>T (p.Pro350Ser)
NM_000206.3(IL2RG):c.1049del (p.Pro350fs)
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.1082del (p.Pro361fs) rs745545309
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.1094T>C (p.Leu365Pro) rs1602287912
NM_000206.3(IL2RG):c.1098G>A (p.Lys366=) rs2147745670
NM_000206.3(IL2RG):c.1098_1099delinsTT (p.Lys366_Pro367delinsAsnSer) rs2147745662
NM_000206.3(IL2RG):c.1107C>T (p.Thr369=)
NM_000206.3(IL2RG):c.115+10C>T
NM_000206.3(IL2RG):c.115+13G>A
NM_000206.3(IL2RG):c.115+2T>C rs2147751760
NM_000206.3(IL2RG):c.116-14T>A
NM_000206.3(IL2RG):c.116-1G>A rs2147751144
NM_000206.3(IL2RG):c.116-2A>G rs2147751146
NM_000206.3(IL2RG):c.116-8C>T
NM_000206.3(IL2RG):c.124C>T (p.Leu42=)
NM_000206.3(IL2RG):c.126del (p.Thr43fs)
NM_000206.3(IL2RG):c.130_139del (p.Thr44fs)
NM_000206.3(IL2RG):c.138C>T (p.Pro46=) rs1393929587
NM_000206.3(IL2RG):c.147C>T (p.Ser49=)
NM_000206.3(IL2RG):c.147_169dup (p.Leu57fs) rs2092262555
NM_000206.3(IL2RG):c.148del (p.Leu50fs) rs2147751090
NM_000206.3(IL2RG):c.153T>A (p.Ser51Arg)
NM_000206.3(IL2RG):c.15A>G (p.Ser5=)
NM_000206.3(IL2RG):c.15A>T (p.Ser5=) rs2147751939
NM_000206.3(IL2RG):c.17T>C (p.Leu6Ser) rs2092264087
NM_000206.3(IL2RG):c.184T>C (p.Cys62Arg) rs1602289649
NM_000206.3(IL2RG):c.202G>A (p.Glu68Lys) rs1057520644
NM_000206.3(IL2RG):c.204G>A (p.Glu68=)
NM_000206.3(IL2RG):c.206A>G (p.Tyr69Cys)
NM_000206.3(IL2RG):c.207C>A (p.Tyr69Ter) rs1282558220
NM_000206.3(IL2RG):c.207C>T (p.Tyr69=)
NM_000206.3(IL2RG):c.215G>T (p.Cys72Phe) rs1556330960
NM_000206.3(IL2RG):c.216C>A (p.Cys72Ter) rs2147750927
NM_000206.3(IL2RG):c.216C>T (p.Cys72=)
NM_000206.3(IL2RG):c.219T>A (p.Thr73=)
NM_000206.3(IL2RG):c.225_226insTGCT (p.Ser76delinsCysTer) rs1602289631
NM_000206.3(IL2RG):c.231C>T (p.Ser77=) rs1556330951
NM_000206.3(IL2RG):c.238C>A (p.Pro80Thr) rs2147750896
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.266A>G (p.Tyr89Cys)
NM_000206.3(IL2RG):c.267T>C (p.Tyr89=) rs2147750855
NM_000206.3(IL2RG):c.268_269del (p.Trp90fs)
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.269+1G>T rs2092262300
NM_000206.3(IL2RG):c.269G>T (p.Trp90Leu) rs2092262308
NM_000206.3(IL2RG):c.270-11T>C
NM_000206.3(IL2RG):c.270-15A>G rs886039387
NM_000206.3(IL2RG):c.270-15A>T rs886039387
NM_000206.3(IL2RG):c.270-1G>T rs193922346
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.270G>A (p.Trp90Ter) rs1569480047
NM_000206.3(IL2RG):c.270G>C (p.Trp90Cys)
NM_000206.3(IL2RG):c.270G>T (p.Trp90Cys) rs1569480047
NM_000206.3(IL2RG):c.278A>G (p.Asn93Ser)
NM_000206.3(IL2RG):c.279C>T (p.Asn93=)
NM_000206.3(IL2RG):c.27_51del (p.Ser10fs) rs2147751892
NM_000206.3(IL2RG):c.281C>A (p.Ser94Ter) rs775704953
NM_000206.3(IL2RG):c.294del (p.Val99fs) rs2092261618
NM_000206.3(IL2RG):c.302_384dup (p.Val129fs) rs2147750252
NM_000206.3(IL2RG):c.30C>T (p.Ser10=)
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys) rs193922347
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.31C>T (p.Leu11Phe)
NM_000206.3(IL2RG):c.328G>T (p.Glu110Ter) rs2147750382
NM_000206.3(IL2RG):c.32T>C (p.Leu11Pro) rs1204738180
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.340G>T (p.Gly114Cys) rs2147750359
NM_000206.3(IL2RG):c.344G>A (p.Cys115Tyr) rs1556330755
NM_000206.3(IL2RG):c.344G>T (p.Cys115Phe) rs1556330755
NM_000206.3(IL2RG):c.34_35del (p.Leu12fs)
NM_000206.3(IL2RG):c.350_351insA (p.Gln118fs)
NM_000206.3(IL2RG):c.352C>T (p.Gln118Ter)
NM_000206.3(IL2RG):c.358A>G (p.Lys120Glu)
NM_000206.3(IL2RG):c.359dup (p.Glu121fs) rs2147750311
NM_000206.3(IL2RG):c.363G>A (p.Glu121=)
NM_000206.3(IL2RG):c.369C>T (p.His123=) rs2092261325
NM_000206.3(IL2RG):c.371_372insAGT (p.Leu124_Tyr125insVal)
NM_000206.3(IL2RG):c.376del (p.Gln126fs)
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.395T>A (p.Leu132His) rs2092261278
NM_000206.3(IL2RG):c.395T>G (p.Leu132Arg) rs2092261278
NM_000206.3(IL2RG):c.401A>G (p.Asp134Gly) rs2147750229
NM_000206.3(IL2RG):c.405A>C (p.Pro135=)
NM_000206.3(IL2RG):c.430C>T (p.Gln144Ter) rs1602289411
NM_000206.3(IL2RG):c.431_433delinsGGG (p.Gln144_Met145delinsArgVal) rs1602289405
NM_000206.3(IL2RG):c.433A>G (p.Met145Val) rs1602289401
NM_000206.3(IL2RG):c.437T>C (p.Leu146Pro)
NM_000206.3(IL2RG):c.452T>C (p.Leu151Pro) rs137852511
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.455-2A>C rs2092260728
NM_000206.3(IL2RG):c.460C>T (p.Pro154Ser) rs1064793153
NM_000206.3(IL2RG):c.461C>A (p.Pro154His) rs1602289242
NM_000206.3(IL2RG):c.463T>A (p.Trp155Arg) rs2147749841
NM_000206.3(IL2RG):c.464G>C (p.Trp155Ser)
NM_000206.3(IL2RG):c.467C>T (p.Ala156Val) rs1057521062
NM_000206.3(IL2RG):c.471A>C (p.Pro157=)
NM_000206.3(IL2RG):c.484C>G (p.Leu162Val) rs2147749821
NM_000206.3(IL2RG):c.485T>G (p.Leu162Arg) rs2092260648
NM_000206.3(IL2RG):c.491A>T (p.Lys164Ile)
NM_000206.3(IL2RG):c.504C>G (p.Ser168=)
NM_000206.3(IL2RG):c.515T>A (p.Leu172Gln)
NM_000206.3(IL2RG):c.522G>A (p.Trp174Ter) rs1556330568
NM_000206.3(IL2RG):c.52del (p.Leu18fs) rs2147751877
NM_000206.3(IL2RG):c.530G>T (p.Arg177Ile) rs2147749719
NM_000206.3(IL2RG):c.545G>C (p.Cys182Ser) rs1064794027
NM_000206.3(IL2RG):c.546_549del (p.Cys182fs) rs2147749701
NM_000206.3(IL2RG):c.548del (p.Leu183fs) rs1556330562
NM_000206.3(IL2RG):c.550G>T (p.Glu184Ter) rs2092260520
NM_000206.3(IL2RG):c.555C>T (p.His185=)
NM_000206.3(IL2RG):c.562C>T (p.Gln188Ter) rs1556330552
NM_000206.3(IL2RG):c.564G>A (p.Gln188=)
NM_000206.3(IL2RG):c.575_578del (p.Asp192fs)
NM_000206.3(IL2RG):c.576C>T (p.Asp192=) rs1378747798
NM_000206.3(IL2RG):c.577T>C (p.Trp193Arg) rs2092260403
NM_000206.3(IL2RG):c.580G>T (p.Asp194Tyr) rs1569479981
NM_000206.3(IL2RG):c.589T>C (p.Trp197Arg) rs2147749604
NM_000206.3(IL2RG):c.594+10T>G
NM_000206.3(IL2RG):c.594+16C>T
NM_000206.3(IL2RG):c.594+1G>A
NM_000206.3(IL2RG):c.594+2_594+3del rs1602289183
NM_000206.3(IL2RG):c.594+5G>A rs2147749578
NM_000206.3(IL2RG):c.594+5G>T rs2147749578
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.597A>C (p.Glu199Asp) rs1602288813
NM_000206.3(IL2RG):c.598C>T (p.Gln200Ter) rs2147748363
NM_000206.3(IL2RG):c.600A>T (p.Gln200His)
NM_000206.3(IL2RG):c.602C>G (p.Ser201Ter) rs1556330286
NM_000206.3(IL2RG):c.603_604del (p.Val202fs) rs2092258288
NM_000206.3(IL2RG):c.609T>C (p.Asp203=)
NM_000206.3(IL2RG):c.60A>C (p.Gly20=) rs772095231
NM_000206.3(IL2RG):c.60A>G (p.Gly20=)
NM_000206.3(IL2RG):c.612T>A (p.Tyr204Ter) rs2147748344
NM_000206.3(IL2RG):c.622T>C (p.Phe208Leu) rs2147748325
NM_000206.3(IL2RG):c.626C>T (p.Ser209Phe)
NM_000206.3(IL2RG):c.62T>C (p.Val21Ala) rs376612175
NM_000206.3(IL2RG):c.632C>G (p.Pro211Arg)
NM_000206.3(IL2RG):c.653G>T (p.Arg218Leu)
NM_000206.3(IL2RG):c.664C>G (p.Arg222Gly)
NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys) rs111033618
NM_000206.3(IL2RG):c.667G>A (p.Val223Ile)
NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp) rs869320658
NM_000206.3(IL2RG):c.671G>C (p.Arg224Pro)
NM_000206.3(IL2RG):c.672G>A (p.Arg224=)
NM_000206.3(IL2RG):c.675C>A (p.Ser225Arg) rs1569479913
NM_000206.3(IL2RG):c.675C>G (p.Ser225Arg) rs1569479913
NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys) rs869320659
NM_000206.3(IL2RG):c.677G>A (p.Arg226His) rs869320660
NM_000206.3(IL2RG):c.678C>T (p.Arg226=) rs2147748213
NM_000206.3(IL2RG):c.685C>A (p.Pro229Thr) rs1602288776
NM_000206.3(IL2RG):c.687A>G (p.Pro229=)
NM_000206.3(IL2RG):c.692G>A (p.Cys231Tyr)
NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg) rs1569479909
NM_000206.3(IL2RG):c.713G>A (p.Ser238Asn) rs2147748142
NM_000206.3(IL2RG):c.720G>A (p.Trp240Ter) rs1556330234
NM_000206.3(IL2RG):c.725A>G (p.His242Arg)
NM_000206.3(IL2RG):c.726C>T (p.His242=)
NM_000206.3(IL2RG):c.72C>T (p.Asn24=)
NM_000206.3(IL2RG):c.738G>A (p.Trp246Ter) rs2147748109
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.758-14del rs1432586413
NM_000206.3(IL2RG):c.758-1G>A rs886042051
NM_000206.3(IL2RG):c.758-2A>G rs2147747509
NM_000206.3(IL2RG):c.758-4dup rs2092256674
NM_000206.3(IL2RG):c.763C>G (p.Pro255Ala)
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.779T>C (p.Leu260Ser)
NM_000206.3(IL2RG):c.79dup (p.Ile27fs)
NM_000206.3(IL2RG):c.804C>T (p.Gly268=) rs2147747411
NM_000206.3(IL2RG):c.80T>C (p.Ile27Thr)
NM_000206.3(IL2RG):c.811G>A (p.Gly271Arg)
NM_000206.3(IL2RG):c.814T>C (p.Leu272=) rs2092256405
NM_000206.3(IL2RG):c.816_819del (p.Ile273fs) rs2147747375
NM_000206.3(IL2RG):c.829del (p.Leu277fs)
NM_000206.3(IL2RG):c.835G>A (p.Val279Met)
NM_000206.3(IL2RG):c.839A>G (p.Tyr280Cys)
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.854+2T>C rs2147747293
NM_000206.3(IL2RG):c.854G>A (p.Arg285Gln) rs111033617
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.855-1G>A rs1556329822
NM_000206.3(IL2RG):c.855-20C>T
NM_000206.3(IL2RG):c.855-2A>C rs2147746826
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.865C>T (p.Arg289Ter) rs137852508
NM_000206.3(IL2RG):c.865dup (p.Arg289fs)
NM_000206.3(IL2RG):c.878T>A (p.Leu293Gln) rs137852510
NM_000206.3(IL2RG):c.879del (p.Lys294fs)
NM_000206.3(IL2RG):c.903_910del (p.Glu302fs) rs1556329779
NM_000206.3(IL2RG):c.924+10C>G rs2147746639
NM_000206.3(IL2RG):c.924+10C>T
NM_000206.3(IL2RG):c.924+12G>A
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.924G>A (p.Ser308=) rs2092255386
NM_000206.3(IL2RG):c.925-8G>A
NM_000206.3(IL2RG):c.925-8G>C rs1216156279
NM_000206.3(IL2RG):c.92A>T (p.Asn31Ile)
NM_000206.3(IL2RG):c.955G>A (p.Glu319Lys)
NM_000206.3(IL2RG):c.958_959del (p.Leu321fs) rs1602288051
NM_000206.3(IL2RG):c.964C>T (p.Gln322Ter)
NM_000206.3(IL2RG):c.969A>T (p.Pro323=)
NM_000206.3(IL2RG):c.96G>T (p.Gly32=)
NM_000206.3(IL2RG):c.97A>G (p.Asn33Asp)
NM_000206.3(IL2RG):c.982C>A (p.Arg328=) rs1064793347
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
NM_000206.3(IL2RG):c.990C>A (p.Cys330Ter)
NM_000206.3(IL2RG):c.993C>T (p.Leu331=) rs2147745985

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.