ClinVar Miner

List of variants reported as pathogenic for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive by Laboratory of Pediatric Immunoinfectivology, Tor Vergata University

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000448.2(RAG1):c.[1229G>A;1863delG]
NM_000448.2(RAG1):c.[1681C>T;1815G>C]
NM_000448.3(RAG1):c.987del (p.Ser330fs)	rs1564988767
NM_000536.3(RAG2):c.[1403_1406delATCT;1A>G]

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