| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001394783.1:c.554_585del | 1 | 0.002 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601373.2 | United Arab Emirates | Healthy adult carrier. In this study, only one out of 200 Emiratis tested positive for this mutation. | ||||
| 601373.3 | United Arab Emirates | Healthy adult carrier. In this study, only one out of 200 Emiratis tested positive for this mutation. |