ClinVar Miner

List of variants studied for GM3 synthase deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys) rs534438354 0.00013
NM_003896.4(ST3GAL5):c.1000C>T (p.Arg334Ter) rs200541102
NM_003896.4(ST3GAL5):c.297T>G (p.Tyr99Ter) rs1423247945

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