ClinVar Miner

List of variants in gene RAG2 reported as benign for Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly) rs16929093 0.03307
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.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

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