Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000329.3:c.131G>A | 4+ |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 204100.G.2 | Saudi Arabia | Retinal dystrophy | Unknown | No | Family with unknown number of affected members |