List of variants reported as pathogenic for Mucopolysaccharidosis type 7 by OMIM

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)	rs121918181	0.00007
NM_000181.4(GUSB):c.1617C>T (p.Ser539=)	rs377519272	0.00004
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val)	rs121918172	0.00004
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp)	rs121918176	0.00003
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)	rs121918185	0.00002
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val)	rs121918175	0.00001
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)	rs121918173	0.00001
NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter)	rs121918179	0.00001
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys)	rs121918184	0.00001
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)	rs121918174	0.00001
NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn)	rs121918182
NM_000181.4(GUSB):c.1338G>A (p.Trp446Ter)	rs121918180
NM_000181.4(GUSB):c.1391+618_1391+619del	rs786200863
NM_000181.4(GUSB):c.1484A>G (p.Tyr495Cys)	rs121918178
NM_000181.4(GUSB):c.1730G>T (p.Arg577Leu)	rs121918183
NM_000181.4(GUSB):c.442C>T (p.Pro148Ser)	rs121918177

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