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Table 2 Average frequencies of variants in autosomal recessive disease 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 32.332 35.135 60.265 56.156 46.177 45.943 57.176
Fraction of individuals with nonsynonymous variants 1 1 1 1 1 1 1
Average number of predicted deleterious variants per individual 8.132 8.792 12.187 11.984 10.871 10.369 11.176
Fraction of individuals with predicted deleterious variants 1 1 1 1 1 1 1
Average number of ClinVar variants per individual 0.883 0.919 0.527 0.492 0.801 0.675 0.627
Fraction of individuals with ClinVar variants 0.583 0.601 0.397 0.369 0.538 0.487 0.431
Average number of HGMD variants per individual 3.44 3.59 2.346 2.23 3.851 3.423 3.039
Fraction of individuals with HGMD-DM variants 0.965 0.977 0.904 0.926 0.978 0.969 1
Average number of nonsense variants per individuals 0.358 0.402 0.385 0.311 0.416 0.423 0.412
Fraction of individuals with nonsense variants 0.301 0.321 0.316 0.27 0.345 0.338 0.353
  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