Carrier frequencies of the five most common DHCR7 mutations determined by screening 2865 anonymous DNA samples of known ethnic backgrounds
| Mutation | White (n=1557) | Black (n=504) | Asian (n=475) | Others* (n=329) |
|---|---|---|---|---|
| *East Indian (215), Middle Eastern (94), North American Aboriginal (20). | ||||
| IVS8-1G→C | 17 | 4 | 0 | 0 |
| T93M | 0 | 0 | 0 | 0 |
| W151X | 2 | 0 | 0 | 0 |
| V326L | 0 | 0 | 0 | 0 |
| R404C | 0 | 0 | 0 | 0 |
| Total | 19 | 4 | 0 | 0 |
| Carrier frequency (95% CI) | 1.22% (0.50-2.32%) | 0.79% (0.56-1.03%) | ||