Research Article
Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes
Table 2
Summary of the nonsynonymous variants identified in patients with CVID and IgAD.
| Variants | dbSNP | MAF (ExAC) | ClinVar | PolyPhen score |
| D41G | rs763197017 | T < 0.0001 | VUS | 0.995, probably damaging | R72H | rs55916807 | T = 0.0017 | VUS | 0.003, benign | I87N | rs72553877 | T < 0.0001 | VUS | 0.986, probably damaging | C104Y | rs72553879 | A < 0.0001 | VUS | 1.000, probably damaging | C104R | rs34557412 | C = 0.003 | Pathogenic allele | 1.000, probably damaging | P151L | rs200037919 | A < 0.0001 | VUS | 0.728, possibly damaging | C172Y | rs751216929 | A < 0.0001 | VUS | 0.985, probably damaging | A181E | rs72553883 | A = 0.005 | Pathogenic allele | 0.890, possibly damaging | G190A | Not described | n.d. | VUS | 0.989, probably damaging | R202H | rs104894649 | A < 0.0001 | VUS | 0.474, possibly damaging |
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MAF: minor allele frequency. MAF source: Exome Aggregation Consortium (ExAC). VUS: Variants of Uncertain Significance.
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