Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000518.5:c.25_26del | NA | 0.043 | ||
| NM_000518.5:c.92+5G>C | 18 | 0.541 | ||
| NM_000518.5:c.92+6T>C | NA | 0.038 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613985.G.17.1 | United Arab Emirates | Anemia | Unknown | 41 transfusion-dependent β-thalassaemia patients. | ||
| 613985.G.17.3 | United Arab Emirates | Anemia | Unknown | Mutations identified in 34 β-thalassaemia patients. |