ClinVar Miner

List of variants in gene IL2RG reported as likely pathogenic for T-B+ severe combined immunodeficiency

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000206.2(IL2RG):c.181C>T (p.Gln61Ter)
NM_000206.2(IL2RG):c.202G>A (p.Glu68Lys) rs1057520644
NM_000206.2(IL2RG):c.270-1G>T rs193922346
NM_000206.2(IL2RG):c.314A>G (p.Tyr105Cys) rs193922347
NM_000206.2(IL2RG):c.344G>A (p.Cys115Tyr) rs1556330755
NM_000206.2(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000206.2(IL2RG):c.465G>A (p.Trp155Ter)
NM_000206.2(IL2RG):c.47T>C (p.Leu16Pro) rs879253742
NM_000206.2(IL2RG):c.662T>C (p.Phe221Ser) rs193922349
NM_000206.2(IL2RG):c.710G>A (p.Trp237Ter) rs193922350
NM_000206.2(IL2RG):c.758-1G>A rs886042051
NM_000206.2(IL2RG):c.855-1G>A rs1556329822
NM_000206.2(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347

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