Fig. 4

Rare VUS in Epilepsy and CMAR genes. The number of rare (< 0.001 gnomAD allele frequency) variants not classified as pathogenic or benign in ClinVar are reported for genes from either the A Epilepsy or B CMAR1 gene list (light gray bars). Variants were scored using the in silico tool M-CAP. The number of suspicious VUS for each gene (> 0.025 M-CAP score) is shown by the dark gray bars. The gold line indicates the expected number of variants based on gnomAD allele frequency data. Gene lists are ranked by the difference between the observed and expected number of variants, when ratios are approximately the same, ranking is determined by number of suspicious gene variants