Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000518.5:c.92+5G>C | NA | NA | ||
| NM_000518.5:c.316-3C>A | NA | NA | ||
| NG_000007.3:g.71609_72227del | NA | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613985.G.16 | United Arab Emirates | Anemia | Unknown | Mutations identified in 137 Emirati β-thalassaemia patients. | ||
| 613985.G.18 | United Arab Emirates | Anemia | Mutations identified in 27 families comprising carrier parents and atleast one β-thalassaemia patient. 85% patients have beta-plus-thalassemia and over 30% are consanguineous. |