ClinVar Miner

List of variants in gene CD3E reported as uncertain significance for T-B+ severe combined immunodeficiency

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000733.3(CD3E):c.298C>A (p.Pro100Thr)
NM_000733.3(CD3E):c.353-5C>A rs374456909
NM_000733.3(CD3E):c.458A>C (p.Lys153Thr) rs200258299
NM_000733.3(CD3E):c.49+3G>A rs202200315
NM_000733.3(CD3E):c.499G>A (p.Gly167Ser)
NM_000733.3(CD3E):c.567+10G>T
NM_000733.3(CD3E):c.575G>A (p.Arg192Gln)
NM_000733.3(CD3E):c.580G>A (p.Gly194Ser) rs141553540
NM_000733.3(CD3E):c.617G>A (p.Arg206His)

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