ClinVar Miner

List of variants in gene CD247 reported as pathogenic 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: 7
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HGVS dbSNP
NM_198053.2(CD247):c.208C>T (p.Gln70Ter) rs74315290
NM_198053.2(CD247):c.208_209inv (p.Gln70Trp) rs193922739
NM_198053.2(CD247):c.208_210delinsTAT (p.Gln70Tyr) rs193922741
NM_198053.2(CD247):c.209A>T (p.Gln70Leu) rs193922740
NM_198053.2(CD247):c.2T>C (p.Met1Thr) rs672601318
NM_198053.2(CD247):c.301C>T (p.Gln101Ter) rs55729925
NM_198053.2(CD247):c.51dup (p.Ile18fs) rs1553238837

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