List of variants reported as pathogenic for T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000732.6(CD3D):c.274+5G>A	rs730880296	0.00001
NM_000732.6(CD3D):c.279C>A (p.Cys93Ter)	rs111033581	0.00001
NM_000732.6(CD3D):c.202C>T (p.Arg68Ter)	rs111033580
NM_000733.4(CD3E):c.128_129del (p.Thr43fs)	rs483352929
NM_000733.4(CD3E):c.176G>A (p.Trp59Ter)	rs121918659
NM_000733.4(CD3E):c.520+2T>C	rs483352928
NM_198053.3(CD247):c.208C>T (p.Gln70Ter)	rs74315290
NM_198053.3(CD247):c.208_209inv (p.Gln70Trp)
NM_198053.3(CD247):c.208_210delinsTAT (p.Gln70Tyr)	rs193922741
NM_198053.3(CD247):c.209A>T (p.Gln70Leu)	rs193922740

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