ClinVar Miner

List of variants reported as pathogenic for T-B+ severe combined immunodeficiency by Department of Immunology, School of Medicine,Complutense University

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_000732.4(CD3D):c.274+5G>A rs730880296
NM_198053.2(CD247):c.2T>C (p.Met1Thr) rs672601318

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