ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease due to muscle beta-enolase deficiency by Centogene AG - the Rare Disease Company

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_053013.4(ENO3):c.1194dup (p.Cys399fs)	rs757440599
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser)	rs560867570

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