TCIRG1 and osteopetrosis: Among these diseases were identified: osteopetrosis, infantile malignant, type 1 (variant NM_006019.4(TCIRG1):c.807+5G>A, population frequency 1.68%) [44]; familial erythrocytosis, type 2 (variant NM_000551.4(VHL):c.598C>T (p.Arg200Trp), frequency 1.84%) [45]; hypotrichosis type 7 (variant LIPH EX4 DEL, frequency 2.72%) [46]; woolly hair, autosomal recessive type 3, with hypotrichosis (variant NM_181534.4(KRT25):c.712G>T (p.Val238Leu), frequency 1.5%) [47]; cystic fibrosis (variant NM_000492.4(CFTR):c.274G>A (p.Glu92Lys), frequency 0.73%) [48].