ClinVar Miner

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
NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn) rs121918182
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val) rs121918175
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173
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.1521G>A (p.Trp507Ter) rs121918179
NM_000181.4(GUSB):c.1617C>T (p.Ser539=) rs377519272
NM_000181.4(GUSB):c.1730G>T (p.Arg577Leu) rs121918183
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp) rs121918176
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val) rs121918172
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys) rs121918184
NM_000181.4(GUSB):c.442C>T (p.Pro148Ser) rs121918177
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp) rs121918174

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