ClinVar Miner

List of variants reported as benign for Combined immunodeficiency due to CD3gamma deficiency by Illumina Laboratory Services, Illumina

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000073.3(CD3G):c.390T>C (p.Ala130=) rs3753059 0.16289
NM_000073.3(CD3G):c.391G>T (p.Val131Phe) rs3753058 0.16277
NM_000073.3(CD3G):c.*244A>G rs45508093 0.12672
NM_000073.3(CD3G):c.*453G>T rs45477194

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