ClinVar Miner

List of variants reported as likely pathogenic for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.1073G>A (p.Cys358Tyr)
NM_000448.3(RAG1):c.1219C>G (p.Gln407Glu) rs986694616
NM_000448.3(RAG1):c.1767C>G (p.Tyr589Ter) rs991089005
NM_000448.3(RAG1):c.2393A>G (p.His798Arg) rs2133297434
NM_000536.4(RAG2):c.110C>T (p.Pro37Leu) rs1851104914
NM_000536.4(RAG2):c.302del (p.Asn101fs) rs2133315462
NM_000536.4(RAG2):c.749C>G (p.Thr250Arg)

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