Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004937.3:c.681G>A | 6 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 219800.G.2.1 | Saudi Arabia | Renal insufficiency; Corneal crystals | Unknown | 5 patients with cystinosis | ||
| 219800.G.2.2 | Saudi Arabia | Renal insufficiency; Corneal crystals | Unknown | 2 patients with cystinosis | ||
| 219800.G.2.4 | Saudi Arabia | Renal insufficiency; Corneal crystals | Unknown | 2 patients with cystinosis | ||
| 219800.G.2.5 | Saudi Arabia | Renal insufficiency; Corneal crystals | Unknown | 6 patients with cystinosis |