Table 3.

Frequency of the Most Common POLG Pathogenic Variants

POLG Pathogenic VariantPrevalenceReference
p.Ala467Thr0.6% (Belgian) Van Goethem et al [2001]
0.17%-0.69% (European) Horvath et al [2006]
0.69% (United Kingdom) Craig et al [2007]
0% (Italian) Craig et al [2007]
p.Trp748Ser0.8% (Finnish) Hakonen et al [2005]
0% (Italian) Craig et al [2007]
p.Gly848Ser0.016% (likely European)Hakonen et al [2007], Nurminen et al [2017]
p.[Thr251Ile;Pro587Leu] 11% (Italian)Ferrari et al [2005], Scuderi et al [2015]
1.

Indicates two different pathogenic variants in cis (see varnomen​.hgvs.org)

From: POLG-Related Disorders

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