Moreover, carrier frequencies based on GnomAD do not necessarily correspond to the epidemiology of the disorders: BBS2 for example has a higher carrier frequency than BBS1 in GnomAD [3], while the latter is much more commonly mutated in patients with the corresponding ciliopathy Bardet-Biedl syndrome [44]. The gene discussed is BBS1; the disease is Bardet-Biedl syndrome.