ClinVar Miner

List of variants reported as uncertain significance for GM1 gangliosidosis type 2 by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_000404.4(GLB1):c.253C>A (p.Pro85Thr) rs1575472038
NM_000404.4(GLB1):c.495_497del (p.Leu166del) rs754077128

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