ClinVar Miner

List of variants in gene CD3E reported as uncertain significance for Severe combined immunodeficiency disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000733.4(CD3E):c.*98_*101dup rs193922618 0.00450
NM_000733.4(CD3E):c.70+4del rs193922619 0.00001
NM_000733.4(CD3E):c.567+65_567+66del rs386134229

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