Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000518.5:c.-138C>T | 2 | 0.01 | ||
| NM_000518.5:c.-80T>A | 1 | 0.01 | ||
| NM_000518.5:c.17_18del | 4 | 0.02 | ||
| NM_000518.5:c.25_26del | 4 | 0.02 | ||
| NM_000518.5:c.90C>T | 13 | 0.07 | ||
| NM_000518.5:c.92+1G>A | 13 | 0.07 | ||
| NM_000518.5:c.92+5G>C | 4 | 0.02 | ||
| NM_000518.5:c.92+6T>C | 22 | 0.12 | ||
| NM_000518.5:c.93-21_96del | 5 | 0.03 | ||
| NM_000518.5:c.93-21G>A | 60 | 0.32 | ||
| NM_000518.5:c.118C>T | 2 | 0.01 | ||
| NM_000518.5:c.135del | 2 | 0.01 | ||
| NM_000518.5:c.315+1G>A | 20 | 0.11 | ||
| Hb Monroe NM_000518.5:c.92G>C | 6 | 0.03 | ||
| NM_000518.5:c.112del | 2 | 0.01 | ||
| NM_000518.5:c.316-3C>A | 1 | 0.01 | ||
| HbS NM_000518.5:c.20A>T | 16 | 0.09 | ||
| NM_000518.5:c.251del | 1 | 0.01 | ||
| NM_000518.5:c.30dup | 2 | 0.01 | ||
| NM_000518.5:c.46del | 2 | 0.01 | ||
| NM_000518.5:c.-136C>G | 2 | 0.01 | ||
| NM_000518.5:c.22G>T | 1 | 0.01 | ||
| NM_000518.5:c.79G>T | 1 | 0.01 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613985.G.24.2 | Lebanon | 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. | ||
| 613985.G.24.3 | Lebanon | 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. |