Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000518.5:c.0_92+25del | 3 | 0.006 | ||
| NM_000518.5:c.17_18del | 26 | 0.05 | ||
| NM_000518.5:c.25_26del | 13 | 0.025 | ||
| NM_000518.5:c.92+1G>A | 78 | 0.15 | ||
| NM_000518.5:c.93-21_96del | 2 | 0.004 | ||
| NM_000518.5:c.118C>T | 1 | 0.002 | ||
| NM_000518.5:c.135del | 8 | 0.015 | ||
| NM_000518.5:c.315+1G>A | 45 | 0.086 | ||
| NM_000518.5:c.27dup | 1 | 0.002 | ||
| Hb Monroe NM_000518.5:c.92G>C | 14 | 0.027 | ||
| NM_000518.5:c.112del | 1 | 0.002 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613985.G.3.1 | Lebanon | Anemia; Fatigue; Pallor | Unknown | No | Patients with beta-plus-thalassemia from a study that analysed 520 β-globin chromosomes. |