List of variants reported as pathogenic for GM1 gangliosidosis type 2

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Total variants: 18

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HGVS	dbSNP
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)	rs72555372
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)	rs72555367
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)	rs72555359
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)	rs72555390
NM_000404.4(GLB1):c.1577dup (p.Trp527fs)	rs794729217
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)	rs371582179
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)	rs756878418
NM_000404.4(GLB1):c.176G>A (p.Arg59His)	rs72555392
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp)	rs72555370
NM_000404.4(GLB1):c.245+1G>A	rs778423653
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)	rs748830051
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe)	rs778700089
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)	rs376710410
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys)	rs72555360
NM_000404.4(GLB1):c.602G>A (p.Arg201His)	rs189115557
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)	rs72555366
NM_000404.4(GLB1):c.716C>T (p.Thr239Met)	rs746766232
NM_000404.4(GLB1):c.846del (p.Thr283fs)	rs1553610382

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