ClinVar Miner

List of variants reported as likely pathogenic for combined immunodeficiency due to partial RAG1 deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):

Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000448.3(RAG1):c.1303A>G (p.Met435Val)	rs141524540	0.00003
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys)	rs749027430

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