| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000243.3:c.2040G>C | 10 | 12.8% |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 249100.G.5.1 | Jordan | Recurrent fever | Group of unrelated patients (homozygous and heterozygous) | |||
| 249100.G.5.2 | Jordan | Recurrent fever | Group of unrelated patients (homozygous and heterozygous) | |||
| 249100.G.5.3 | Jordan | Recurrent fever | Group of unrelated heterozygous patients | |||
| 249100.G.5.5 | Jordan | Recurrent fever | Group of unrelated patients |