ClinVar Miner

List of variants in gene CD3E reported as benign 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: 6
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HGVS dbSNP
NM_000733.3(CD3E):c.103C>T (p.Pro35Ser) rs143949187
NM_000733.3(CD3E):c.216T>C (p.Asp72=) rs2231444
NM_000733.3(CD3E):c.323C>T (p.Ala108Val) rs35299792
NM_000733.3(CD3E):c.498G>A (p.Ala166=) rs78373007
NM_000733.3(CD3E):c.507C>T (p.Gly169=) rs2231447
NM_000733.3(CD3E):c.54C>T (p.Gly18=) rs1126924

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