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SOX2 variant types and presence or absence of genitourinary (GU) anomalies
| Female GU anomalies | Female normal GU | Male GU anomalies | Male normal GU | |
|---|---|---|---|---|
| Total | 5 | 14 | 15 | 5 |
| Deletion/translocation | 1 | 5 | 2 | 0 |
| c.70_89del | 1 | 2 | 3 | 1 |
| Frameshift | 2 | 4 | 5 | 2 |
| Missense | 0 | 0 | 2 | 0 |
| Nonsense | 1 | 2 | 3 | 1 |
| In-frame | 0 | 0 | 0 | 1 |
