List of variants studied for combined immunodeficiency, X-linked

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000206.3(IL2RG):c.857C>T (p.Thr286Met)	rs767758983	0.00014
NM_000206.3(IL2RG):c.1061A>G (p.His354Arg)	rs771221019	0.00002
NM_000206.3(IL2RG):c.201C>T (p.Val67=)	rs756100347	0.00002
NM_000206.3(IL2RG):c.202G>A (p.Glu68Lys)	rs1057520644
NM_000206.3(IL2RG):c.269+1G>T	rs2092262300
NM_000206.3(IL2RG):c.318A>G (p.Leu106=)	rs1389116834
NM_000206.3(IL2RG):c.374A>G (p.Tyr125Cys)	rs2092261313
NM_000206.3(IL2RG):c.484C>G (p.Leu162Val)	rs2147749821
NM_000206.3(IL2RG):c.511G>T (p.Glu171Ter)
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.74del (p.Thr25fs)	rs2147751859
NM_000206.3(IL2RG):c.75_77del (p.Thr26del)	rs758742212
NM_000206.3(IL2RG):c.878T>A (p.Leu293Gln)	rs137852510
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)	rs1064793347

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