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SOX2 variant types and intellectual disability severity
| Normal | Mild ID | Mild to moderate ID | Moderate ID | Moderate to severe ID | Severe ID | Severe to profound ID | Profound ID | Total | |
|---|---|---|---|---|---|---|---|---|---|
| Total | 1 | 6 | 3 | 1 | 5 | 4 | 5 | 2 | 28 |
| Deletion/translocation | 0 | 1 | 0 | 0 | 1 | 2 | 2 | 1 | 7 |
| c.70_89del | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 0 | 3 |
| Frameshift | 0 | 4 | 3 | 0 | 1 | 1 | 1 | 0 | 10 |
| Missense | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
| Nonsense | 0 | 0 | 0 | 0 | 2 | 0 | 1 | 1 | 4 |
