ClinVar Miner

List of variants studied for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive by Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000448.3(RAG1):c.1528G>T (p.Glu510Ter) rs759401797
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser) rs199474681
NM_000448.3(RAG1):c.2393A>G (p.His798Arg) rs2133297434

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