RS121917895 RAG2
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What This Variant Does
"CLNSIG=5
Associated Conditions
Histiocytic medullary reticulosis
Severe combined immunodeficiency
autosomal recessive
T cell-negative
B cell-negative
NK cell-positive
Inborn error of immunity
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency
autosomal recessive
T cell-negative
B cell-negative
NK cell-positive
Other Variants in RAG2