ClinVar Miner

List of variants reported as likely pathogenic for Omenn syndrome by Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer

Included ClinVar conditions (8):

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; 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
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
Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000536.4(RAG2):c.218G>A (p.Arg73His)	rs762407838	0.00002
NM_000536.4(RAG2):c.104G>T (p.Gly35Val)	rs148508754
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp)	rs121917895
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.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.470G>T (p.Gly157Val)	rs1564997121
NM_000536.4(RAG2):c.854T>G (p.Met285Arg)	rs121917896

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