ClinVar Miner

List of variants studied for GM1 gangliosidosis type 2 by Baylor Genetics

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.1313G>A (p.Gly438Glu) rs72555367
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) rs778700089

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