Unknown
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000329.3:c.310G>C | 4+ |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 204100.G.1 | Saudi Arabia | Retinal dystrophy | Unknown | Yes | Family with unknown number of affected members |