2004; Tosetto et al. 2006; Mansour‐Hendili et al. 2015; Pusch and Zifarelli 2015). Q629X and R345W are both novel mutations that were detected in RKSC patients, although Q629X has also since been reported in a Japanese cohort (Sekine et al. 2014). Both R345W and T657S were detected in the ExAC database; however, T657S was previously reported as pathogenic in a Dent disease patient (Hoopes et al. 2004) and was found with a high minor‐allele frequency, which was most marked in African Americans (MIF MAF 0.23%) (Table 1). This evidence concerns the gene MIF and Dent disease.