ClinVar Miner

List of variants in gene RAG2 reported as benign for T-B- severe combined immunodeficiency

Included ClinVar conditions (30):

Athabaskan severe combined immunodeficiency
Cernunnos-XLF deficiency
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
Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Recombinase activating gene 2 deficiency; Inborn error of immunity
Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas; Recombinase activating gene 2 deficiency; Inborn error of immunity
Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
DNA ligase IV deficiency
DNA ligase IV deficiency; Multiple myeloma
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis; Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Recombinase activating gene 2 deficiency; Inborn error of immunity
Histiocytic medullary reticulosis; Recombinase activating gene 2 deficiency; Inborn error of immunity
Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive; Recombinase activating gene 2 deficiency; Inborn error of immunity
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
Neutrophil immunodeficiency syndrome
Neutrophil immunodeficiency syndrome; Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia; Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
Partial adenosine deaminase deficiency
Reticular dysgenesis
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe combined immunodeficiency due to LCK deficiency
Severe combined immunodeficiency, B cell-negative
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive; Recombinase activating gene 2 deficiency; Inborn error of immunity
Short-limb skeletal dysplasia with severe combined immunodeficiency

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

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000536.4(RAG2):c.*328A>G	rs10836573	0.48132
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly)	rs16929093	0.03307
NM_000536.4(RAG2):c.*183C>A	rs12280564	0.03300
NM_000536.4(RAG2):c.*144G>T	rs12280515	0.03006
NM_000536.4(RAG2):c.741G>A (p.Val247=)	rs34092949	0.01926
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu)	rs34629171	0.01070
NM_000536.4(RAG2):c.22G>A (p.Val8Ile)	rs150762709	0.00313
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)	rs145614809	0.00149
NM_000536.4(RAG2):c.1095T>C (p.Ser365=)	rs140519815	0.00139
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)	rs35691292	0.00032
NM_000536.4(RAG2):c.1074G>A (p.Glu358=)	rs557047531	0.00001
NM_000536.4(RAG2):c.948A>G (p.Ile316Met)	rs545910812

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.