Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs.

Nucleic Acids Res · 2023 · PMC9943669 · PMID 36651276

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highly significantno p-value reported

The differences in the proportions of the main variant classes (three types of pLoF variants, protein changed variants, splice site variants, and synonymous variants) between gnomAD and pathogenic HGMD/ClinVar were highly significant ( P ≪ 0.001 in Fisher's exact test) (Figure 6A ). uORF pLoF and splice variants were more frequent among pathogenic variants.

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