Figure 1. Distribution of HGMD listed variants and rare variants with respect to their pathogenic potential.

Mean average variant frequency in public databases (ESP6500, 1000G2012apr_all, and EXAC_ALL) is 0.000279 for class I variants (high pathogenic potential), 0.00267 for class II (intermediate pathogenic potential), 0.00372 for class III (low pathogenic potential), and 0.0192 for class IV (benign) variants.