Table 2 Allele frequency distribution of missense, nonsense, and consensus splice-site variants in the HMBS, CPOX, and PPOX genes in various populationsa

From: International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

Heme biosynthetic gene

Caucasians

Africans

Latinos

East Asians

South Asians

HMBS

    Missense

       0.4–0.1%

1

3

3

0

1

       0.1–0.01%

7

11

8

7

9

       0.01–0.002%

34

18

41

20

26

       0.002–0.0007%

68

0

0

0

0

    Nonsense

       0.01–0.002%

1

0

0

0

0

    Consensus splice-site

       0.1–0.01%

0

0

0

0

1

       0.01–0.002%

0

1

0

0

0

       0.002–0.0007%

3

0

0

0

0

CPOX

    Missense

       45–1%

3

4

3

2

3

       1–0.1%

0

3

2

3

4

       0.1–0.01%

8

23

14

17

9

       0.01–0.002%

31

23

15

21

31

       0.002–0.0007%

53

0

22

0

0

    Nonsense

       0.1–0.01%

0

1

0

0

0

       0.01–0.002%

0

0

3

0

1

       0.002–0.0007%

1

0

0

0

0

    Consensus splice-site

       1–0.1%

0

0

0

0

1

       0.01–0.002%

1

0

0

0

0

PPOX

    Missense

       7–1%

1

1

1

1

1

       1–0.1%

1

4

3

1

2

       0.1–0.01%

3

17

7

13

8

       0.01–0.002%

24

25

30

15

55

       0.002–0.0007%

91

0

0

0

0

    Nonsense

       0.1–0.01%

1

2

1

0

0

       0.01–0.002%

2

1

1

1

2

       0.002–0.0007%

6

0

0

0

0

    Consensus splice-site

       0.002–0.0007%

1

0

0

0

0

  1. aData reported in Genome Aggregation Database (gnomAD v2.1, gnomad.broadinstitute.org).