ClinVar Miner

List of variants studied for T-B- severe combined immunodeficiency by Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer

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
		ClinVar version:

Total variants: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)	rs145614809	0.00149
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)	rs35691292	0.00032
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)	rs121918575	0.00004
NM_000536.4(RAG2):c.218G>A (p.Arg73His)	rs762407838	0.00002
NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser)	rs757913323	0.00001
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr)	rs121918573	0.00001
NM_000536.4(RAG2):c.479C>T (p.Ser160Leu)	rs756694972	0.00001
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp)	rs765298019	0.00001
NM_000536.4(RAG2):c.104G>T (p.Gly35Val)	rs148508754
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly)	rs121917897
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp)	rs121917895
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)	rs193922572
NM_000536.4(RAG2):c.1320A>C (p.Lys440Asn)	rs754413772
NM_000536.4(RAG2):c.1329G>T (p.Met443Ile)	rs773710101
NM_000536.4(RAG2):c.1332C>G (p.Ile444Met)	rs1564995662
NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg)	rs1564995627
NM_000536.4(RAG2):c.1366G>A (p.Ala456Thr)	rs1564995611
NM_000536.4(RAG2):c.1375A>C (p.Met459Leu)	rs1204766339
NM_000536.4(RAG2):c.186C>A (p.Phe62Leu)	rs1564997563
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr)	rs909264507
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn)	rs121918574
NM_000536.4(RAG2):c.283G>C (p.Gly95Arg)	rs36001797
NM_000536.4(RAG2):c.470G>T (p.Gly157Val)	rs1564997121
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)	rs121917894
NM_000536.4(RAG2):c.758C>G (p.Pro253Arg)	rs1564996700
NM_000536.4(RAG2):c.854T>G (p.Met285Arg)	rs121917896

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