ClinVar Miner

List of variants studied for Glycogen storage disease due to muscle and heart glycogen synthase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002103.5(GYS1):c.693G>A (p.Lys231=) rs5460 0.01434
NM_002103.5(GYS1):c.420A>G (p.Gly140=) rs5458 0.01301
NM_002103.5(GYS1):c.1545A>G (p.Thr515=) rs5448 0.00719
NM_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612 0.00314
NM_002103.5(GYS1):c.300+8G>A rs5454 0.00187
NM_002103.5(GYS1):c.207G>A (p.Thr69=) rs540438011 0.00019
NM_002103.5(GYS1):c.1512C>T (p.Val504=) rs201028159 0.00018

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