ClinVar Miner

List of variants reported as pathogenic for Glycogen storage disease due to muscle and heart glycogen synthase deficiency by Kids Neuroscience Centre, Sydney Children's Hospitals Network

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_002103.5(GYS1):c.1646-1_1647del	rs2122461010

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