ClinVar Miner

List of variants studied for Glycogen storage disease due to muscle beta-enolase deficiency by Center for Computational Genomics and Data Science, University of Alabama

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_053013.4(ENO3):c.1037_1041dup (p.Gly348fs) rs1298530904

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