List of variants 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: 28

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HGVS	dbSNP	gnomAD frequency
NM_000448.3(RAG1):c.746= (p.His249=)	rs3740955	0.51789
NM_000448.3(RAG1):c.746A>G (p.His249Arg)	rs3740955	0.48211
NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg)	rs2227973	0.12928
NM_000448.3(RAG1):c.2880A>G (p.Ala960=)	rs1980131	0.07643
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly)	rs16929093	0.03307
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu)	rs4151030	0.02153
NM_000536.4(RAG2):c.741G>A (p.Val247=)	rs34092949	0.01926
NM_000448.3(RAG1):c.303G>A (p.Ala101=)	rs4151025	0.01561
NM_000448.3(RAG1):c.189A>G (p.Pro63=)	rs34357808	0.01436
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys)	rs4151033	0.01395
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys)	rs4151031	0.01070
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu)	rs34629171	0.01070
NM_000448.3(RAG1):c.251A>G (p.His84Arg)	rs150199231	0.00550
NM_000448.3(RAG1):c.2659G>A (p.Asp887Asn)	rs4151034	0.00364
NM_000448.3(RAG1):c.2751G>A (p.Gln917=)	rs150721661	0.00334
NM_000536.4(RAG2):c.22G>A (p.Val8Ile)	rs150762709	0.00313
NM_000448.3(RAG1):c.2571C>T (p.Ala857=)	rs141560248	0.00227
NM_000448.3(RAG1):c.2451A>G (p.Glu817=)	rs61758791	0.00167
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg)	rs76897604	0.00164
NM_000536.4(RAG2):c.1095T>C (p.Ser365=)	rs140519815	0.00139
NM_000448.3(RAG1):c.577G>A (p.Glu193Lys)	rs34841221	0.00130
NM_000448.3(RAG1):c.1578G>A (p.Leu526=)	rs143289774	0.00081
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)	rs35691292	0.00032
NM_000448.3(RAG1):c.1573C>T (p.Pro525Ser)	rs4151032	0.00017
NM_000448.3(RAG1):c.2955T>C (p.Tyr985=)	rs139084848	0.00014
NM_000448.3(RAG1):c.2808C>A (p.Thr936=)	rs199921936	0.00006
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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