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Table 3 Population frequency of SLC25A19 variants

From: Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4

Patients

Gene

Transcript

Variants

Zygosity

Carrier

gnomAD

East Asian

1000 genomes

dbSNP

1

SLC25A19

NM_00112

6122

c.169G>C

p.Ala57Thr

Heterozygous

Father

5.789e−05

–

rs766616256

c.383C>T

p.Ala128Val

Heterozygous

Mother

–

–

–

2 and 3

  

c.76G>A

p.Gly26Arg

Heterozygous

Father

0.0005

0.001

rs181826033

c.745T>A

p.Phe249Ile

Heterozygous

Mother

–

–

–

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172