ClinVar Miner

List of variants studied for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive; Recombinase activating gene 2 deficiency; Inborn error of immunity

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser) rs757913323 0.00001
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) rs121918573 0.00001
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) rs121917897
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507

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