| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000243.3:c.501G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 249100.2.1 | Lebanon | Recurrent fever | ||||
| 249100.2.2 | Lebanon | Recurrent fever | ||||
| 249100.2.3 | Lebanon | Recurrent fever | ||||
| 249100.2.4 | Lebanon | Recurrent fever | ||||
| 249100.2.6 | Lebanon | Recurrent fever | ||||
| 249100.2.7 | Lebanon | Recurrent fever |