Fig. 1. Assessment of pLoF variants in LoF-tolerant genes associated with autosomal recessive and X-linked phenotypes in OMIM.

a, Autosomal recessive and X-linked (AR) OMIM phenotypes: likely to be found (blue), likely to be depleted (yellow) or not expected (red) to be found in gnomAD, for the 158 phenotypes associated with LoF-tolerant genes in gnomAD and a set of 100 randomly selected AR and X-linked OMIM traits. ***P = 3.0 × 10⁻⁵, Fisher’s exact test. b, Extended literature review of the 46 out of 158 OMIM phenotypes not expected to be found in gnomAD. c, Extended variant curation of 32 pLoF variants in 30 LoF-tolerant genes beyond criteria presented in our original Article revealed pLoF with suggested evasion of pLoF (purple), and pLoF with no conclusive (pink) or no evidence (grey) contradicting pLoF in these genes. NMD, nonsense-mediated decay. Further details are provided in Supplementary Table 1.