Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000518.5:c.17_18del | 11 | NA | ||
| NM_000518.5:c.25_26del | 10 | NA | ||
| NM_000518.5:c.92+5G>C | 138 | NA | ||
| NM_000518.5:c.92+6T>C | 8 | NA | ||
| NM_000518.5:c.93-21_96del | 24 | NA | ||
| NM_000518.5:c.93-21G>A | 5 | NA | ||
| NM_000518.5:c.118C>T | 10 | NA | ||
| NM_000518.5:c.135del | 4 | NA | ||
| NM_000518.5:c.315+1G>A | 9 | NA | ||
| NM_000518.5:c.27dup | 15 | NA | ||
| Hb Monroe NM_000518.5:c.92G>C | 6 | NA | ||
| NM_000518.5:c.112del | 1 | NA | ||
| NM_000518.5:c.47G>A | 2 | NA | ||
| NM_000518.5:c.316-3C>A | 1 | NA | ||
| NM_000518.5:c.-151C>T | 1 | NA | ||
| NM_000518.5:c.93-1G>C | 6 | NA | ||
| NM_000518.5:c.92+1G>C | 1 | NA | ||
| NM_000518.5:c.251del | 3 | NA | ||
| NM_000518.5:c.*113A>G | 2 | NA | ||
| NM_000518.5:c.332T>C | 2 | NA | ||
| Hb Tacoma NM_000518.5:c.93G>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613985.G.18 | United Arab Emirates | Anemia | Mutations identified in 27 families comprising carrier parents and atleast one β-thalassaemia patient. 85% patients have beta-plus-thalassemia and over 30% are consanguineous. | |||
| 613985.G.19 | United Arab Emirates | Anemia | Unknown | Mutations identified in 35 unrelated β-thalassaemia patients. |