ClinVar Miner

List of variants reported as pathogenic for Combined immunodeficiency, X-linked

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000206.3(IL2RG):c.202G>A (p.Glu68Lys) rs1057520644
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.878T>A (p.Leu293Gln) rs137852510
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347

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