List of variants reported as pathogenic for GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)	rs376710410	0.00006
NM_000404.4(GLB1):c.602G>A (p.Arg201His)	rs189115557	0.00005
NM_000404.4(GLB1):c.176G>A (p.Arg59His)	rs72555392	0.00004
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)	rs72555391	0.00002
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)	rs748830051	0.00002
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)	rs72555372	0.00001
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)	rs72555359	0.00001
NM_000404.4(GLB1):c.1480-2A>G	rs587776526	0.00001
NM_000404.4(GLB1):c.245+1G>A	rs778423653	0.00001
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)	rs72555367
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)	rs72555390
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)	rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)	rs192732174
NM_000404.4(GLB1):c.591dup (p.Asp198Ter)	rs2125533127
NM_000404.4(GLB1):c.846del (p.Thr283fs)	rs1553610382

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