ClinVar Miner

List of variants reported as pathogenic for GM1 gangliosidosis type 2

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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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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