Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000518.5:c.92+5G>C | NA | |||
| NM_000518.5:c.93-21_96del | NA | |||
| NM_000518.5:c.93-21G>A | NA | |||
| NM_000518.5:c.118C>T | NA | |||
| NM_000518.5:c.315+1G>A | NA | |||
| NM_000518.5:c.-50A>C | NA | |||
| NM_000518.5:c.20del | NA | |||
| NM_000518.5:c.27dup | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613985.G.2.2 | Saudi Arabia | Anemia; Fatigue; Pallor | Unknown | Beta-thalassemia mutations observed in 27 patients of Jordanian origin | ||
| 613985.G.2.3 | Saudi Arabia | Anemia; Fatigue; Pallor | Unknown | Beta-thalassemia mutations observed in 31 patients of Egyptian origin | ||
| 613985.G.2.4 | Saudi Arabia | Anemia; Fatigue; Pallor | Unknown | Beta-thalassemia mutations observed in 33 patients of Syrian origin | ||
| 613985.G.2.5 | Saudi Arabia | Anemia; Fatigue; Pallor | Unknown | Beta-thalassemia mutations observed in 25 patients of Lebanese origin | ||
| 613985.G.2.6 | Saudi Arabia | Anemia; Fatigue; Pallor | Unknown | Beta-thalassemia mutations observed in 10 patients of Yemeni origin |