ClinVar Miner

List of variants studied for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive by Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.749C>G (p.Thr250Arg)
NM_000536.4(RAG2):c.829dup (p.Tyr277fs) rs1851074524

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