ClinVar Miner

List of variants in gene CD3G reported as pathogenic for Combined immunodeficiency due to CD3gamma deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000073.3(CD3G):c.13A>T (p.Lys5Ter) rs1948335884
NM_000073.3(CD3G):c.1A>G (p.Met1Val) rs104894199
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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