Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001625.4:c.545C>A | 26 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 267500.G.1.1 | Saudi Arabia | Recurrent respiratory infections; Decreased circulating antibody level | No | Patients 'P1' and 'P2' from families 1 and 2 in the publication |