Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000518.5:c.17_18del | 8 | 0.043 | ||
| NM_000518.5:c.25_26del | NA | 0.043 | ||
| NM_000518.5:c.92+6T>C | NA | 0.038 | ||
| NM_000518.5:c.93-21_96del | 12 | 0.065 | ||
| NM_000518.5:c.93-21G>A | 3 | 0.016 | ||
| NM_000518.5:c.118C>T | 10 | 0.054 | ||
| NM_000518.5:c.135del | 2 | 0.011 | ||
| NM_000518.5:c.315+1G>A | 6 | 0.032 | ||
| NM_000518.5:c.27dup | 16 | 0.086 | ||
| NM_000518.5:c.47G>A | 4 | 0.022 | ||
| NM_000518.5:c.93-1G>C | 7 | 0.038 | ||
| NM_000518.5:c.114del | 2 | 0.011 |
| 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.17.2 | United Arab Emirates | Anemia | Unknown | Mutations identified in 18 transfusion-dependent β-thalassaemia patients. |