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. 2020 Mar 18;41(7):1250–1262. doi: 10.1002/humu.24010

Figure 5.

Figure 5

Fraction of residual activity relative to wild‐type based on ClinVar significance (left) and gnomAD global allele frequency (right). ALP, alkaline phosphatase; B, benign; gnomAD, Genome Aggregation Database; LB, likely benign; LP, likely pathogenic; P, pathogenic; TNSALP, tissue‐nonspecific alkaline phosphatase; VUS, variant of uncertain significance