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. Author manuscript; available in PMC: 2022 Jan 28.
Published in final edited form as: Nat Rev Neurol. 2019 Jan;15(1):40–52. doi: 10.1038/s41582-018-0101-0

Table 3 |.

Common POLG pathogenic variants

POLG pathogenic variant Prevalence Reference
A467T Europe: 0.17–0.69% 105
Belgium: 0.6% 12
UK: 0.69% 168
Italy: 0% 168
W748S Finland: 0.8% 15
Italy: 0% 168
G848S 0.05–0.10% dbSNP rs113994098
T251I-P587L 0.05–1.00% 103