HGMD variants and corresponding MAFs in ExAC. (A) Truncated log-scale barplot showing the number of HGMD variants by HGMD phenotype (edited for improved legibility). (B) Log-scale barplot showing the number of HGMD variants binned by MAF in ExAC. (C) Histogram of the 140 variants in BPD genes with a MAF in ExAC exceeding 1/1000 (ie, belonging to the blue bins in panel [B]) broken down by HGMD phenotype (edited for improved legibility). The individual Phred-scaled MAFs of the variants (ie, such that 30 corresponds to 1/1000 and 20 to 1/100) are superimposed on the histogram and colored by whether they are classified as disease causing (DM and DM? categories). ADAMTS13, a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13; IgE, immunoglobulin E; IVF, in vitro fertilization.