ClinVar Miner

List of variants studied for GM1 gangliosidosis type 2 by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys) rs371397760
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410

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