Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000518.5:c.25_26del | 3 | 0.08 | ||
| NM_000518.5:c.90C>T | 1 | 0.03 | ||
| NM_000518.5:c.92+1G>A | 4 | 0.11 | ||
| NM_000518.5:c.92+6T>C | 1 | 0.03 | ||
| NM_000518.5:c.93-21_96del | 2 | 0.06 | ||
| NM_000518.5:c.93-21G>A | 6 | 0.17 | ||
| NM_000518.5:c.315+1G>A | 11 | 0.31 | ||
| NM_000518.5:c.27dup | 1 | 0.03 | ||
| NM_000518.5:c.126_129del | 1 | 0.03 | ||
| NM_000518.5:c.316-3C>A | 3 | 0.08 | ||
| NM_000518.5:c.-78A>C | 1 | 0.03 | ||
| NM_000518.5:c.-29G>A | 1 | 0.03 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613985.G.24.1 | Iraq | Anemia | Unknown | Mutations identified in 126 Lebanese patients/carriers. 47 individuals were homozygous β-thalassemia patients; 13 were compound heterozygous; and 66 were carriers. | ||
| 613985.G.24.3 | Iraq | Anemia | Unknown | Mutation identified in 18 Syrian patients/carriers residing in Lebanon. 5 individuals were homozygous β-thalassemia patients; 5 were compound heterozygous; and 8 were carriers. One of the variants is a delta-beta hybrid. |