PAX6 and isolated aniridia: This is important for developmental eye disorders, such as aniridia where ~15% of all PAX6 variants are located in intronic regions, with the majority at the intron–exon border (Lima Cunha, Arno, Corton, & Moosajee, 2019), although only 8.6% were noncoding variants from the WGS group in this study.