Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry

Table 3 Distribution and genetic variants frequency in patients with mucopolysaccharidosis type VI, n (%)

Single nucleotide variant	Number of patients with a specific variant, n = 51
с.1601А>G (p.Ter534Trp)	2 (3.9)
c.691-1G>A	1 (2.0)
c.454C>T (p.Arg152Trp)	22 (43.1)
c.966G>A (p.Trp322*)	5 (9.8)
c.194C>T (p.Ser65Phe)	10 (19.6)
c.304C>G (p.Arg102Gly)	1 (2.0)
c.797A>C (p.Tyr266Ser)	2 (3.9)
c.974G>A (p.Gly325Asp)	1 (2.0)
c.943C>T (p.Arg315*)	5 (9.8)
c.237_243delGGTGCTC (p.Val80Trpfs*32)	1 (2.0)
c.629A>G (p.Tyr210Cys)	4 (7.8)
c.1562G>A (p.Cys521Tyr)	2 (3.9)
c.533A>G (p.His178Arg)	2 (3.9)
c.262C>T (p.Gln88*)	3 (5.9)
c.1079T>C (p.Leu360Pro)	1 (2.0)
c.743delC (p.Pro248fs)	1 (2.0)
c.785dupA (p.Asn262fs)	1 (2.0)
c.293T>C (p.Leu98Pro)	2 (3.9)
c.1131G>T (p.Trp377Cys)	1 (2.0)
c.941T>C (р.Leu314Pro)	3 (5.9)
ex5: Del2635kb	1 (2.0)
с.990_1003del14	1 (2.0)