ClinVar Miner

List of variants reported as likely benign for Glycogen storage disease due to muscle and heart glycogen synthase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002103.5(GYS1):c.*725C>T rs1042265 0.08927
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447 0.01369
NM_002103.5(GYS1):c.*841A>G rs75797604 0.01139
NM_002103.5(GYS1):c.1926G>A (p.Val642=) rs5451 0.00912
NM_002103.5(GYS1):c.*908G>A rs117997270 0.00664
NM_002103.5(GYS1):c.*256G>A rs148077948 0.00465
NM_002103.5(GYS1):c.*450G>A rs3745693 0.00414
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.*421A>G rs181566066 0.00098
NM_002103.5(GYS1):c.*611C>T rs370792196 0.00003
NM_002103.4(GYS1):c.-253delG rs370753423

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