ClinVar Miner

List of variants studied for Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Recombinase activating gene 2 deficiency; Inborn error of immunity

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) rs193922573 0.00001
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.539C>A (p.Pro180His) rs1064793251

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