Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000518.5:c.92+5G>C | 48 | |||
| NM_000518.5:c.92+6T>C | 1 | |||
| NM_000518.5:c.93-21_96del | 2 | |||
| NM_000518.5:c.118C>T | 4 | |||
| NM_000518.5:c.135del | 6 | |||
| NM_000518.5:c.315+1G>A | 7 | |||
| NM_000518.5:c.*110_*114del | 2 | |||
| NM_000518.5:c.93-1G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613985.G.15.2 | Oman | Anemia; Fatigue; Pallor | Unknown | Mutation identified in a Palestinian family residing in UAE |