ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000733.4(CD3E):c.71-2A>G rs908640922 0.00001
NM_000733.4(CD3E):c.103+1G>A rs201543770
NM_000733.4(CD3E):c.103+1G>T rs201543770
NM_000733.4(CD3E):c.353-1G>A
NM_000733.4(CD3E):c.520+1G>A
NM_000733.4(CD3E):c.520+2T>C rs483352928

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