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. Author manuscript; available in PMC: 2020 Apr 21.
Published in final edited form as: Genet Med. 2019 Mar 8;21(9):1969–1976. doi: 10.1038/s41436-019-0468-3

Table 3:

Carrier frequency and estimated incidence of Zellweger spectrum disorder estimated with variants that pass ACMG criteria to classify sequence variants.

ACMG Pathogenicity Ratinga Carrier Frequency (1 in N People) Incidenceb (1 in N Births)

ExAC All (60,706 people)
Pathogenic and Likely Pathogenic 1 in 531 1 in 3,275,751
Pathogenic Only 1 in 1,198 1 in 10,413,631
Likely Pathogenic Only 1 in 953 1 in 14,426,436
ExAC Non-Finnish European (33,370 people)
Pathogenic and Likely Pathogenic 1 in 347 1 in 1,230,228
Pathogenic Only 1 in 690 1 in 3,103,913
Likely Pathogenic Only 1 in 696 1 in 6,688,356
ExAC South Asian (8,256 people)
Pathogenic and Likely Pathogenic 1 in 2,258 1 in 94,886,541
Pathogenic Only 1 in 6,211 1 in 291,523,941
Likely Pathogenic Only 1 in 3,547 1 in 190,211,615
ExAC admixed American (5,789 people)
Pathogenic and Likely Pathogenic 1 in 1,145 1 in 15,407,026
Pathogenic Only 1 in 3,333 1 in 80,000,000
Likely Pathogenic Only 1 in 1,745 1 in 30,859,004
ExAC African (5,203 people)
Pathogenic and Likely Pathogenic 1 in 781 1 in 9,040,685
Pathogenic Only 1 in 2,533 1 in 67,826,224
Likely Pathogenic Only 1 in 1,129 1 in 13,072,318
ExAC East Asian (4,327 people)
Pathogenic and Likely Pathogenic 1 in 2,000 1 in 57,142,857
Pathogenic Only 1 in 5,000 1 in 200,000,000
Likely Pathogenic Only 1 in 3,333 1 in 133,333,333
ExAC Finnish (3,307 people)
Pathogenic and Likely Pathogenic 1 in 714 1 in 2,702,703
Pathogenic Only 1 in 5,000 1 in 100,000,000
Likely Pathogenic Only 1 in 833 1 in 2,777,778
a

There are 11 pathogenic and 33 likely pathogenic variants included in analysis.

b

Total incidence is calculated by summing gene-level incidence rates.

ACMG American College of Medical Genetics and Genomics.