CFTR and cystic fibrosis: This is exemplified by the most frequent CFTR pathogenic variant NM_000492.3:c.1521_1523del; p.(Phe508del) in cystic fibrosis (MAF~0.015 in Non-Finnish Europeans) and the GJB2 variant NM_004004.5:c.35del; p.(Gly12ValfsTer2) in non-syndromic sensorineural deafness (MAF~0.01 in Non-Finnish Europeans).