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Table 1 Average frequencies of variants in 56 ACMG SF genes among five ethnic groups

From: Secondary findings and carrier test frequencies in a large multiethnic sample

Population European Americans (ARIC) Europeans (CMG) African Americans (ARIC) Africans (CMG) Turks (CMG) Hispanics (CMG) Asians (CMG)
Number of samples 5718 1455 2836 122 498 388 51
Average number of nonsynonymous variants per individual 1.683 1.878 3.159 2.852 2.271 2.472 2.667
Fraction of individuals with nonsynonymous variants 0.807 0.84 0.955 0.959 0.896 0.93 0.922
Average number of predicted deleterious variants per individual 0.612 0.737 0.963 0.779 0.865 0.765 0.843
Fraction of individuals with predicted deleterious variants 0.449 0.529 0.615 0.549 0.578 0.539 0.569
Average number of ClinVar variants per individual 0.06 0.049 0.06 0.057 0.056 0.044 0.137
Fraction of individuals with ClinVar variants 0.058 0.048 0.058 0.057 0.052 0.044 0.137
Average number of HGMD variants per individual 0.416 0.463 0.485 0.459 0.4 0.428 0.412
Fraction of individuals with HGMD-DM variants 0.335 0.355 0.38 0.393 0.333 0.34 0.353
Average number of nonsense variants per individual 0.007 0.006 0.013 0.008 0.008 0.003 0
Fraction of individuals with nonsense variants 0.007 0.006 0.013 0.008 0.008 0.003 0
  1. These frequencies are reported for: 1) all rare nonsynonymous variants, 2) predicted deleterious variants, 3) reported pathogenic ClinVar variants, 4) HGMD-DM variants, 5) nonsense variants