| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005689.4:c.4G>A | 1 | |||
| NM_005689.4:c.904C>G | 1 | |||
| NM_017780.4:c.5689G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614497.1.2 | United Arab Emirates | Microphthalmia; | Male | Father of 614497.1.1 |