ClinVar Miner

List of variants reported as pathogenic for Omenn syndrome by Natera, Inc.

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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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)	rs36001797	0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)	rs121908156	0.00003
NM_000536.4(RAG2):c.442C>T (p.Arg148Ter)	rs1315729938	0.00001
NM_000536.4(RAG2):c.595G>T (p.Glu199Ter)	rs748727021	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.1357T>A (p.Trp453Arg)	rs1564995627
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)	rs121917894

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