ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002103.5(GYS1):c.678+1G>A rs755305465 0.00006
NM_002103.5(GYS1):c.1318T>C (p.Phe440Leu) rs756191455 0.00001
NM_002103.5(GYS1):c.1304C>T (p.Thr435Met)
NM_002103.5(GYS1):c.1A>C (p.Met1Leu) rs748334413

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