Fig. 3

Population-Specific Carrier Frequencies of ENPP1 Variants. The carrier frequency was calculated using the Hardy–Weinberg equilibrium equation and the sum of the allele frequencies of the specified variants. Known Pathogenic/Likely Pathogenic: variants that were classified as Pathogenic/Likely Pathogenic by ACMG/AMP. Presumed Pathogenic LOF: start loss, nonsense, frameshift, and canonical splice site variants that were found in gnomAD but not the published literature. Presumed Pathogenic Missense: predicted damaging missense variants that were found in gnomAD but not the published literature