ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418
NM_000404.4(GLB1):c.846del (p.Thr283fs) rs1553610382

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