Table 1 Carrier frequency and estimated incidence of Smith–Lemli–Opitz syndrome in East Asian and Korean
Variants (n) | Total individuals (n) | Carrier frequency (%), (95% CI) | Estimated incidence (1/n), (95% CI) | |
|---|---|---|---|---|
gnomAD East Asian exomes (n = 9197) | ||||
2015 ACMG-AMP (PV/LPV) | 15 | 33 | 0.4 (0.2–0.5) | 1/310,688 (1/157,533–1/655,641) |
HGMD (DM) | 9 | 21 | 0.2 (0.1–0.3) | 1/767,209 (1/328,405–1/2,003,437) |
ClinVar (PV/LPV) | 10 | 23 | 0.3 (0.2–0.4) | 1/639,583 (1/284,141–1,592,214) |
gnomAD Korean exomes (n = 1909) | ||||
2015 ACMG-AMP (PV/LPV) | 4 | 19 | 1.0 (0.6–1.6) | 1/40,380 (1/16,557–1/111,408) |
HGMD (DM) | 3 | 12 | 0.6 (0.3–1.1) | 1/101,230 (1/33,178–1/379,165) |
ClinVar (PV/LPV) | 2 | 11 | 0.6 (0.3–1.0) | 1/120,472 (1/37,631–1/483,595) |