ClinVar Miner

List of variants reported as likely pathogenic for Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; Combined cellular and humoral immune defects with granulomas; Histiocytic medullary reticulosis; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

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Total variants: 2
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HGVS dbSNP
NM_000448.2(RAG1):c.1303A>G (p.Met435Val) rs141524540
NM_000448.2(RAG1):c.2348C>G (p.Ser783Ter)

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