ClinVar Miner

List of variants in gene FTL, GYS1, LOC130064893 studied for Glycogen storage disease due to muscle and heart glycogen synthase deficiency

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002103.5(GYS1):c.*841A>G rs75797604 0.01139
NM_002103.5(GYS1):c.*908G>A rs117997270 0.00664
NM_002103.5(GYS1):c.*868A>G rs571576339 0.00083

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