ClinVar Miner

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

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