ClinVar Miner

List of variants reported as pathogenic 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: 3

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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

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