ClinVar Miner

List of variants studied for Glycogen storage disease due to muscle and heart glycogen synthase deficiency by OMIM

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375 0.00006
NM_002103.5(GYS1):c.1384C>T (p.Arg462Ter) rs121434584 0.00001

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