ClinVar Miner

List of variants reported as uncertain significance for combined immunodeficiency due to partial RAG1 deficiency by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000448.3(RAG1):c.1981_1983del (p.Met661del)	rs774103837	0.00002
NM_000448.3(RAG1):c.549G>A (p.Met183Ile)	rs750394886	0.00001

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