ClinVar Miner

List of variants reported as uncertain significance for GM3 synthase deficiency by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_003896.4(ST3GAL5):c.1060G>A (p.Asp354Asn) rs749966729

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