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Summary of the frequency of DHX37 pathogenic variants found in association with each 46,XY DSD subtype
| Phenotype | DHX37 Amino acid change | Frequency |
|---|---|---|
| 46,XY Gonadal dysgenesis (n = 81) | p.T304M (2), p.R308Q (4), p.R334L, R674Q (2) | 9/81 (11%) |
| 46,XY Testicular regression syndrome (n = 16) | p.R308Q, p.R334W, p.S626L, p.G1030E | 4/16 (25%) |
| 46,XY DSD (boy with penoscrotal hypospadias) (n = 33) | - | 0 |
| 46,XY Anorchia (n = 15) | - | 0 |
DSD disorders/differences of sex development.
