List of variants reported as pathogenic for mucopolysaccharidosis type 3D by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002076.4(GNS):c.1063C>T (p.Arg355Ter)	rs119461974
NM_002076.4(GNS):c.1138_1139insGTCCT (p.Asp380fs)	rs483352899
NM_002076.4(GNS):c.1168C>T (p.Gln390Ter)	rs119461975
NM_002076.4(GNS):c.1169del (p.Gln390fs)	rs483352898
NM_002076.4(GNS):c.1226dup (p.Ser410fs)	rs483352900

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