ClinVar Miner

List of variants reported as likely benign for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.189A>G (p.Pro63=) rs34357808 0.01436
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys) rs4151031 0.01070
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.*227T>C rs113343318 0.00331
NM_000448.3(RAG1):c.*3156A>G rs183729240 0.00313
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.*52T>A rs546979744 0.00076
NM_000448.3(RAG1):c.-15+12A>G rs190968516 0.00061
NM_000448.3(RAG1):c.*1307C>T rs572674156 0.00042
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_000448.3(RAG1):c.2955T>C (p.Tyr985=) rs139084848 0.00014

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