List of variants reported as uncertain significance for Severe combined immunodeficiency disease by Illumina Laboratory Services, Illumina

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
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
NM_000215.4(JAK3):c.*1353dup	rs886054269
NM_000215.4(JAK3):c.*1931del	rs147498283
NM_000215.4(JAK3):c.*340dup	rs886054276
NM_000215.4(JAK3):c.841_842dup	rs34803277
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.*266dup	rs202167692

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