Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000518.5:c.17_18del | 3 | 0.11 | ||
| NM_000518.5:c.25_26del | 1 | 0.04 | ||
| NM_000518.5:c.92+1G>A | 2 | 0.07 | ||
| NM_000518.5:c.92+6T>C | 1 | 0.04 | ||
| NM_000518.5:c.93-21_96del | 1 | 0.04 | ||
| NM_000518.5:c.93-21G>A | 7 | 0.25 | ||
| NM_000518.5:c.118C>T | 5 | 0.18 | ||
| NM_000518.5:c.135del | 3 | 0.11 | ||
| NM_000518.5:c.315+1G>A | 2 | 0.07 | ||
| NM_000518.5:c.27dup | 4 | 0.04 | ||
| Hb Lepore-Boston-Washington NG_000007.3:g.63632_71046del | 2 | 0.07 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613985.G.24.1 | Syria | 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.24.2 | Syria | Anemia | Unknown | Mutation identified in 26 Iraqi patients/carriers residing in Lebanon. 8 individuals were homozygous β-thalassemia patients; 2 were compound heterozygous; and 16 were carriers. |