ClinVar Miner

List of variants in gene CD19 reported as pathogenic for B cell deficiency

Included ClinVar conditions (64):
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_001770.5(CD19):c.1653_*9delins23
NM_001770.6(CD19):c.1386_1387del (p.Asn463fs) rs1393707607
NM_001770.6(CD19):c.1464del (p.Ser489fs) rs886037921
NM_001770.6(CD19):c.156G>C (p.Trp52Cys) rs886037920
NM_001770.6(CD19):c.947-1G>T rs1567506566
NM_001770.6(CD19):c.971dup (p.Arg325fs) rs2152230798

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