ClinVar Miner

List of variants in gene TNFRSF13B reported as pathogenic for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_012452.2(TNFRSF13B):c.204dupA (p.Leu69Thrfs) rs72553875
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012452.2(TNFRSF13B):c.431C>A (p.Ser144Ter) rs104894650
NM_012452.2(TNFRSF13B):c.431C>G (p.Ser144Ter) rs104894650
NM_012452.2(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882
NM_012452.2(TNFRSF13B):c.49delC (p.Gln17Argfs) rs1555550717
NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883
NM_012452.2(TNFRSF13B):c.572dup (p.Asp191Glufs)
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) rs121908379
NM_012452.2(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649
TNFRSF13B, 1-BP INS, 204A

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