Table 3:
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 |
There are 11 pathogenic and 33 likely pathogenic variants included in analysis.
Total incidence is calculated by summing gene-level incidence rates.
ACMG American College of Medical Genetics and Genomics.