ClinVar Miner

List of variants in gene IL2RG reported as pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_70328107)_(70328216_?)del
NC_000023.10:g.(?_70330774)_(70331695_?)del
NC_000023.11:g.(?_71108277)_(71108346_?)del
NM_000206.3(IL2RG):c.130_139del (p.Thr44fs)
NM_000206.3(IL2RG):c.147_169dup (p.Leu57fs) rs2092262555
NM_000206.3(IL2RG):c.148del (p.Leu50fs) rs2147751090
NM_000206.3(IL2RG):c.181C>T (p.Gln61Ter) rs1569480082
NM_000206.3(IL2RG):c.184T>C (p.Cys62Arg) rs1602289649
NM_000206.3(IL2RG):c.186T>A (p.Cys62Ter) rs111033619
NM_000206.3(IL2RG):c.202G>A (p.Glu68Lys) rs1057520644
NM_000206.3(IL2RG):c.207C>A (p.Tyr69Ter) rs1282558220
NM_000206.3(IL2RG):c.216C>A (p.Cys72Ter) rs2147750927
NM_000206.3(IL2RG):c.225_226insTGCT (p.Ser76delinsCysTer) rs1602289631
NM_000206.3(IL2RG):c.268_269del (p.Trp90fs)
NM_000206.3(IL2RG):c.269+1G>T rs2092262300
NM_000206.3(IL2RG):c.270-1G>T rs193922346
NM_000206.3(IL2RG):c.270G>A (p.Trp90Ter) rs1569480047
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.314A>G (p.Tyr105Cys) rs193922347
NM_000206.3(IL2RG):c.328G>T (p.Glu110Ter) rs2147750382
NM_000206.3(IL2RG):c.341G>A (p.Gly114Asp) rs111033620
NM_000206.3(IL2RG):c.343T>C (p.Cys115Arg) rs111033622
NM_000206.3(IL2RG):c.350_351insA (p.Gln118fs)
NM_000206.3(IL2RG):c.352C>T (p.Gln118Ter)
NM_000206.3(IL2RG):c.355A>T (p.Lys119Ter) rs137852507
NM_000206.3(IL2RG):c.359dup (p.Glu121fs) rs2147750311
NM_000206.3(IL2RG):c.376del (p.Gln126fs)
NM_000206.3(IL2RG):c.421C>T (p.Gln141Ter) rs1556330713
NM_000206.3(IL2RG):c.430C>T (p.Gln144Ter) rs1602289411
NM_000206.3(IL2RG):c.452T>C (p.Leu151Pro) rs137852511
NM_000206.3(IL2RG):c.454+1G>A rs1569480018
NM_000206.3(IL2RG):c.455-2A>C rs2092260728
NM_000206.3(IL2RG):c.455-2A>T
NM_000206.3(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000206.3(IL2RG):c.455T>G (p.Val152Gly) rs193922348
NM_000206.3(IL2RG):c.458T>A (p.Ile153Asn) rs111033621
NM_000206.3(IL2RG):c.522G>A (p.Trp174Ter) rs1556330568
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.562C>T (p.Gln188Ter) rs1556330552
NM_000206.3(IL2RG):c.575_578del (p.Asp192fs)
NM_000206.3(IL2RG):c.594+1G>A
NM_000206.3(IL2RG):c.594+2_594+3del rs1602289183
NM_000206.3(IL2RG):c.598C>T (p.Gln200Ter) rs2147748363
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.612T>A (p.Tyr204Ter) rs2147748344
NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys) rs111033618
NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp) rs869320658
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.703C>T (p.Gln235Ter) rs1556330249
NM_000206.3(IL2RG):c.703_711dup (p.Gln235_Trp237dup) rs587776729
NM_000206.3(IL2RG):c.710G>A (p.Trp237Ter) rs193922350
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.738G>A (p.Trp246Ter) rs2147748109
NM_000206.3(IL2RG):c.758-1G>A rs886042051
NM_000206.3(IL2RG):c.758-2A>G rs2147747509
NM_000206.3(IL2RG):c.816_819del (p.Ile273fs) rs2147747375
NM_000206.3(IL2RG):c.829del (p.Leu277fs)
NM_000206.3(IL2RG):c.854G>A (p.Arg285Gln) rs111033617
NM_000206.3(IL2RG):c.855-1G>A rs1556329822
NM_000206.3(IL2RG):c.855-2A>C rs2147746826
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.905_906del (p.Glu302fs) rs2147746709
NM_000206.3(IL2RG):c.922del (p.Ser308fs) rs2147746685
NM_000206.3(IL2RG):c.923C>A (p.Ser308Ter) rs137852509
NM_000206.3(IL2RG):c.924+1G>A rs886041333
NM_000206.3(IL2RG):c.958_959del (p.Leu321fs) rs1602288051
NM_000206.3(IL2RG):c.964C>T (p.Gln322Ter)
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347

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