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Table 3 Detected SLC22A5 variants and their frequencies

From: Increased detection of primary carnitine deficiency through second-tier newborn genetic screening

No

Variants

Alleles

Frequencies (%)

1

760C > T

16

32

2

c.1400C > G

7

14

3

c.51C > G

7

14

4

c.695C > T

5

10

5

c.1139C > T

4

8

6

c.797C > T

3

6

7

c.338G > A

2

4

8

c.845G > A

1

2

9

c.394-1G > A

1

2

10

c.782_799del

1

2

11

c.822G > A

1

2

12

c.1144_1162del

1

2

13

c.1160A > G

1

2

  1. The novel SLC22A5 variants identified by our team are in boldface type