ClinVar Miner

List of variants reported as likely pathogenic for Combined immunodeficiency with skin granulomas; Recombinase activating gene 2 deficiency; Primary immunodeficiency

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Total variants: 2
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HGVS dbSNP
NM_000536.4(RAG2):c.186C>A (p.Phe62Leu) rs1564997563
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn) rs121918574

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