List of variants studied for T-B+ severe combined immunodeficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000206.3(IL2RG):c.175G>T (p.Glu59Ter)	rs2092262517
NM_000206.3(IL2RG):c.181C>T (p.Gln61Ter)	rs1569480082
NM_000206.3(IL2RG):c.270-1G>T	rs193922346
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys)	rs193922347
NM_000206.3(IL2RG):c.359_360insT (p.Lys120fs)	rs2092261347
NM_000206.3(IL2RG):c.43C>T (p.Gln15Ter)	rs1057517747
NM_000206.3(IL2RG):c.455T>C (p.Val152Ala)	rs193922348
NM_000206.3(IL2RG):c.465G>A (p.Trp155Ter)	rs1569479994
NM_000206.3(IL2RG):c.662T>C (p.Phe221Ser)	rs193922349
NM_000206.3(IL2RG):c.703C>T (p.Gln235Ter)	rs1556330249
NM_000206.3(IL2RG):c.710G>A (p.Trp237Ter)	rs193922350
NM_000206.3(IL2RG):c.758-2A>G	rs2147747509
NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter)	rs137852508
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)	rs1064793347

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