ClinVar Miner

List of variants in gene CD19 studied for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
CD19, 1-BP INS, 972A
CD19, 2-BP DEL, 1384GA
NM_001178098.2(CD19):c.1638del (p.Gly547fs) rs774006181
NM_001770.5(CD19):c.1042T>C (p.Tyr348His)
NM_001770.5(CD19):c.1464del (p.Ser489fs) rs886037921
NM_001770.5(CD19):c.1541G>A (p.Arg514His) rs34763945
NM_001770.5(CD19):c.156G>C (p.Trp52Cys) rs886037920
NM_001770.5(CD19):c.1653_*9delins23
NM_001770.5(CD19):c.381G>A (p.Ser127=) rs142342927
NM_001770.5(CD19):c.390T>A (p.Gly130=) rs573154781
NM_001770.5(CD19):c.395T>G (p.Leu132Arg) rs146795664
NM_001770.5(CD19):c.520C>G (p.Leu174Val) rs2904880
NM_001770.5(CD19):c.947-1G>T rs1567506566
NM_001770.6(CD19):c.1198+2T>G
NM_001770.6(CD19):c.178C>T (p.Pro60Ser)

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