| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000243.3:c.800C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 249100.3.1 | Jordan | Recurrent fever | ||||
| 249100.3.3 | Jordan | Recurrent fever | ||||
| 249100.3.4 | Jordan | Recurrent fever |