List of variants reported as pathogenic for T-B+ severe combined immunodeficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002185.5(IL7R):c.221+2T>G	rs200044623	0.00002
NM_000215.4(JAK3):c.1645C>T (p.Arg549Ter)	rs1011307501	0.00001
NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys)	rs869320659
NM_000732.6(CD3D):c.202C>T (p.Arg68Ter)	rs111033580
NM_002185.5(IL7R):c.361dup (p.Ile121fs)	rs869312857

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