ClinVar Miner

List of variants reported as likely pathogenic for X-linked severe combined immunodeficiency

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Total variants: 15
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NM_000206.2(IL2RG):c.181C>T (p.Gln61Ter) rs1569480082
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) rs1569479994
NM_000206.2(IL2RG):c.467C>T (p.Ala156Val) rs1057521062
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.855-1G>A rs1556329822
NM_000206.2(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu) rs776710796
NM_000206.3(IL2RG):c.485T>G (p.Leu162Arg)

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