Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| Constant Spring NM_000517.6:c.427T>C | 4 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613978.1.G.1 | United Arab Emirates | HbH hemoglobin; Decreased mean corpuscular volume; Decreased mean corpuscular hemoglobin concentration | Male | 3 Omani patients | ||
| 613978.1.G.2 | United Arab Emirates | HbH hemoglobin; Decreased mean corpuscular volume; Decreased mean corpuscular hemoglobin concentration | Male | 3 Emirati patients | ||
| 613978.1.G.4 | United Arab Emirates | HbH hemoglobin; Decreased mean corpuscular volume; Decreased mean corpuscular hemoglobin concentration | Male | 9 Emirati patients | ||
| 613978.1.G.5 | United Arab Emirates | HbH hemoglobin; Decreased mean corpuscular volume; Decreased mean corpuscular hemoglobin concentration | Male | 3 Emirati patients |