Carrier frequency and incidence estimation of Smith–Lemli–Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis

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)

2015 ACMG-AMP, 2015 American College of Medical Genetics and Genomics and the Association for Molecular Pathology guideline; 95% CI, 95% confidence intervals; DM, disease-causing variant; gnomAD, Genome Aggregation Database; LPV, likely pathogenic variant; PV, pathogenic variant

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