Fig. 2

Non-coding region variants are under-ascertained in ClinVar and are more likely to be classified as variants of uncertain significance (VUS) when compared to protein-coding variants. a The proportion of the genomic footprint of MANE transcripts that fall into each of five region categories and the proportion of variants in ClinVar (all, likely pathogenic or pathogenic, likely benign or benign, and VUS) within those regions. b The number of high-confidence pathogenic variants in ClinVar (see ‘2’) that fall into each of the five region categories plotted as bars, with the proportion of variants in each region classified as VUS as blue points