ClinVar Miner

List of variants reported as likely benign for Severe combined immunodeficiency disease

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NC_000011.10:g.36579767A>G rs2673017 0.02522
NM_000448.3(RAG1):c.189A>G (p.Pro63=) rs34357808 0.01436
NC_000011.10:g.118342754C>G rs76974878 0.01335
NM_000733.4(CD3E):c.507C>T (p.Gly169=) rs2231447 0.00816
NM_000733.4(CD3E):c.498G>A (p.Ala166=) rs78373007 0.00262
NM_001079.4(ZAP70):c.1155C>T (p.Arg385=) rs193922633 0.00004
NM_000215.4(JAK3):c.1890G>A (p.Gln630=) rs193922363
NM_000448.3(RAG1):c.*2705dup rs4151048
NM_000448.3(RAG1):c.*2936TAAG[1] rs199555129
NM_002185.5(IL7R):c.*1902del rs33994244
NM_002185.5(IL7R):c.*334AAAG[4] rs397691511

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