ClinVar Miner

List of variants studied for Severe combined immunodeficiency disease by Illumina Laboratory Services, Illumina

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000215.4(JAK3):c.1787-11dup rs397839895 0.02943
NC_000011.10:g.36579767A>G rs2673017 0.02522
NC_000011.10:g.118342754C>G rs76974878 0.01335
NM_000733.4(CD3E):c.*98_*101dup rs193922618 0.00450
NM_000448.3(RAG1):c.*834dup rs745747958 0.00063
NM_000536.4(RAG2):c.14T>A (p.Met5Lys) rs143415103 0.00019
NM_000448.3(RAG1):c.1A>G (p.Met1Val) rs200575481 0.00007
NM_000215.4(JAK3):c.190C>T (p.Leu64=) rs886054280 0.00001
NC_000019.10:g.17824778_17824779del rs10580414
NC_000019.10:g.17824778_17824779insCA rs10672762
NM_000073.3(CD3G):c.-62GCTG[4] rs60810919
NM_000215.4(JAK3):c.*1353dup rs886054269
NM_000215.4(JAK3):c.*1931del rs147498283
NM_000215.4(JAK3):c.*222CT[1] rs3212801
NM_000215.4(JAK3):c.*340dup rs886054276
NM_000215.4(JAK3):c.*841_*842dup rs34803277
NM_000448.3(RAG1):c.*2705dup rs4151048
NM_000448.3(RAG1):c.*2936TAAG[1] rs199555129
NM_000448.3(RAG1):c.*3122del rs141384582
NM_000448.3(RAG1):c.*386del rs886048258
NM_000448.3(RAG1):c.*856C>A rs886048261
NM_000536.4(RAG2):c.*72T>C rs886048269
NM_000732.6(CD3D):c.-37G>T rs886047738
NM_001079.4(ZAP70):c.-81T>G rs200416837
NM_002185.5(IL7R):c.*1902del rs33994244
NM_002185.5(IL7R):c.*266dup rs202167692
NM_002185.5(IL7R):c.*334AAAG[4] rs397691511

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