Table 2 Average frequencies of variants in autosomal recessive disease genes among five ethnic groups

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