List of variants reported as pathogenic for Combined immunodeficiency due to CD3gamma deficiency

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000073.3(CD3G):c.205A>T (p.Lys69Ter)	rs199676861	0.00003
NC_000011.10:g.118349744_118349760del	rs483352927
NC_000011.9:g.(?_117856768)_(118972385_?)del
NM_000073.3(CD3G):c.109C>T (p.Gln37Ter)
NM_000073.3(CD3G):c.13A>T (p.Lys5Ter)	rs1948335884
NM_000073.3(CD3G):c.178A>T (p.Lys60Ter)	rs2134069699
NM_000073.3(CD3G):c.1A>G (p.Met1Val)	rs104894199
NM_000073.3(CD3G):c.213del (p.Lys71fs)	rs570768621
NM_000073.3(CD3G):c.213dup (p.Trp72fs)	rs570768621
NM_000073.3(CD3G):c.357_358del (p.Phe120fs)
NM_000073.3(CD3G):c.496C>T (p.Arg166Ter)	rs201529449
NM_000073.3(CD3G):c.513C>G (p.Tyr171Ter)
NM_000073.3(CD3G):c.71C>G (p.Ser24Ter)	rs2134068305

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