Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000517.6:c.*94A>G | 1 | NA | ||
| Hb Fontainebleau NM_000517.6:c.64G>C | 1 | 0.0024 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 604131.12 | United Arab Emirates | Reduced hemoglobin A | Female | 'Case 1' in the publication |