List of variants reported as pathogenic for GM1 gangliosidosis type 2 by Counsyl

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Total variants: 8

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HGVS	dbSNP
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)	rs72555372
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)	rs72555359
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)	rs72555391
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)	rs72555390
NM_000404.4(GLB1):c.245+1G>A	rs778423653
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)	rs748830051
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys)	rs72555360
NM_000404.4(GLB1):c.846del (p.Thr283fs)	rs1553610382

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