ClinVar Miner

List of variants in gene IL2RG reported as likely pathogenic for Combined immunodeficiency, X-linked

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000206.3(IL2RG):c.269+1G>T rs2092262300
NM_000206.3(IL2RG):c.511G>T (p.Glu171Ter)

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