ClinVar Miner

List of variants in gene IL2RG studied for T-B+ severe combined immunodeficiency

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP
IL2RG, ARG267TER
NC_000023.10:g.(?_70328127)_(70328196_?)del
NM_000206.2(IL2RG):c.-105C>T rs1396169268
NM_000206.2(IL2RG):c.100G>T (p.Glu34Ter) rs1556331272
NM_000206.2(IL2RG):c.1094T>C (p.Leu365Pro)
NM_000206.2(IL2RG):c.181C>T (p.Gln61Ter) rs1569480082
NM_000206.2(IL2RG):c.186T>A (p.Cys62Ter) rs111033619
NM_000206.2(IL2RG):c.202G>A (p.Glu68Lys) rs1057520644
NM_000206.2(IL2RG):c.215G>T (p.Cys72Phe) rs1556330960
NM_000206.2(IL2RG):c.231C>T (p.Ser77=) rs1556330951
NM_000206.2(IL2RG):c.270-15A>G rs886039387
NM_000206.2(IL2RG):c.270-1G>T rs193922346
NM_000206.2(IL2RG):c.270G>A (p.Trp90Ter) rs1569480047
NM_000206.2(IL2RG):c.314A>G (p.Tyr105Cys) rs193922347
NM_000206.2(IL2RG):c.325G>A (p.Glu109Lys) rs17875899
NM_000206.2(IL2RG):c.341G>A (p.Gly114Asp) rs111033620
NM_000206.2(IL2RG):c.343T>C (p.Cys115Arg) rs111033622
NM_000206.2(IL2RG):c.344G>A (p.Cys115Tyr) rs1556330755
NM_000206.2(IL2RG):c.355A>T (p.Lys119Ter) rs137852507
NM_000206.2(IL2RG):c.406C>T (p.Arg136Trp) rs758080286
NM_000206.2(IL2RG):c.430C>T (p.Gln144Ter)
NM_000206.2(IL2RG):c.431_433delinsGGG (p.Gln144_Met145delinsArgVal)
NM_000206.2(IL2RG):c.433A>G (p.Met145Val)
NM_000206.2(IL2RG):c.452T>C (p.Leu151Pro) rs137852511
NM_000206.2(IL2RG):c.454+1G>A rs1569480018
NM_000206.2(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000206.2(IL2RG):c.455T>G (p.Val152Gly) rs193922348
NM_000206.2(IL2RG):c.458T>A (p.Ile153Asn) rs111033621
NM_000206.2(IL2RG):c.461C>A (p.Pro154His)
NM_000206.2(IL2RG):c.465G>A (p.Trp155Ter) rs1569479994
NM_000206.2(IL2RG):c.47T>C (p.Leu16Pro) rs879253742
NM_000206.2(IL2RG):c.522G>A (p.Trp174Ter) rs1556330568
NM_000206.2(IL2RG):c.548del (p.Leu183fs) rs1556330562
NM_000206.2(IL2RG):c.562C>T (p.Gln188Ter) rs1556330552
NM_000206.2(IL2RG):c.580G>T (p.Asp194Tyr) rs1569479981
NM_000206.2(IL2RG):c.594+2_594+3del
NM_000206.2(IL2RG):c.597A>C (p.Glu199Asp)
NM_000206.2(IL2RG):c.602C>G (p.Ser201Ter) rs1556330286
NM_000206.2(IL2RG):c.662T>C (p.Phe221Ser) rs193922349
NM_000206.2(IL2RG):c.670C>T (p.Arg224Trp) rs869320658
NM_000206.2(IL2RG):c.675C>G (p.Ser225Arg) rs1569479913
NM_000206.2(IL2RG):c.676C>T (p.Arg226Cys) rs869320659
NM_000206.2(IL2RG):c.677G>A (p.Arg226His) rs869320660
NM_000206.2(IL2RG):c.703_711dup (p.Gln235_Trp237dup) rs587776729
NM_000206.2(IL2RG):c.710G>A (p.Trp237Ter) rs193922350
NM_000206.2(IL2RG):c.720G>A (p.Trp240Ter) rs1556330234
NM_000206.2(IL2RG):c.758-1G>A rs886042051
NM_000206.2(IL2RG):c.821T>C (p.Ile274Thr) rs370677485
NM_000206.2(IL2RG):c.854G>A (p.Arg285Gln) rs111033617
NM_000206.2(IL2RG):c.855-1G>A rs1556329822
NM_000206.2(IL2RG):c.855-8C>T rs372985214
NM_000206.2(IL2RG):c.865C>T (p.Arg289Ter) rs137852508
NM_000206.2(IL2RG):c.87del (p.Asn31fs)
NM_000206.2(IL2RG):c.903_910del (p.Glu302fs) rs1556329779
NM_000206.2(IL2RG):c.923C>A (p.Ser308Ter) rs137852509
NM_000206.2(IL2RG):c.956_957AG[1] (p.Leu321fs)
NM_000206.2(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347

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