ClinVar Miner

List of variants reported as pathogenic for GM1 gangliosidosis type 1 by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.75+2dup rs587776525 0.00021
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) rs72555370 0.00003

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