Table 3 Estimated proportions of homozygotes among pathogenic variants.

From: Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals

Category

Set 1

Set 2

Set 3

Set 4

GD

0

1.86E-07

1.86E-07

1.86E-07

HSA

4.71E-06

8.13E-06

1.93E-05

1.46E-04

ARa

0

0

0

4.37.E-04

CHG

1.44E-08

1.72E-07

1.97E-07

2.00E-07

Totalb

4.73E-06

8.49E-06

1.97E-05

1.47E-04

  1. aHemizygous for male.
  2. bAR is not included.
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