Unknown
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000518.5:c.-138C>T | 3 | 0.006 | ||
| NM_000518.5:c.-137C>G | 4 | 0.008 | ||
| NM_000518.5:c.90C>T | 50 | 0.096 | ||
| NM_000518.5:c.92+5G>C | 4 | 0.008 | ||
| NM_000518.5:c.92+6T>C | 75 | 0.144 | ||
| NM_000518.5:c.93-21G>A | 178 | 0.342 | ||
| NM_000518.5:c.316-106C>G | 6 | 0.011 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613985.G.3.2 | Lebanon | Anemia; Fatigue; Pallor | Unknown | Patients with beta-zero-thalassemia from a study that analysed 520 β-globin chromosomes. |