As one of the most common genetic causes of HL, many CDH23 pathogenic alleles have been identified in affected individuals of Pakistani ancestry, contributing to up to 5% of NSHL and USH1D1 due to numerous pathogenic alleles of CDH23.66 The c.2968G>A, p.(Asp990Asn) and c.6133G>A, p.(Asp2045Asn) alleles are major causes of CDH23‐associated deafness in Pakistan but the most commonly occurring variant of these genes is c.6050‐9G>A (splicing).66, 74. Here, CDH23 is linked to deafness.