For example, we observed a higher than expected carrier rate for mutations in genes associated with rare diseases, such as Nagashima-type palmoplantar keratosis (SERPINB7 rs142859678, AF = 0.72%), primary carnitine deficiency (SLC22A5 rs60376624, AF = 0.28%; rs121908893, AF = 0.18%), phenylketonuria (PAH rs76687508, AF = 0.24%), sitosterolemia (ABCG5 rs119480069, AF = 0.33%), and infantile type of Pompe disease (GAA rs28940868, AF = 0.38%). The gene discussed is SLC22A5; the disease is systemic primary carnitine deficiency disease.