Among the less prevalent pathogenic variants, we observed statistically significant overrepresentation of disease alleles for Charcot‐Marie‐Tooth disease type 4B3 (SBF1, MIM#603560; rs200488568, p = 1.2 × 10–4); Maple syrup urine disease (BCKDHB, MIM#248611; rs386834233, p = .003), combined oxidative phosphorylation deficiency 10 (MTO1, MIM#614667; rs201544686, p = 4.9 × 10–4) (3 observations each), and several other recessive pathologies. The gene discussed is SBF1; the disease is maple syrup urine disease.