ClinVar Miner

List of variants in gene combination FTL, GYS1 reported as likely benign for Glycogen storage disease due to muscle and heart glycogen synthase deficiency

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002103.5(GYS1):c.*725C>T rs1042265 0.08927
NM_002103.5(GYS1):c.1926G>A (p.Val642=) rs5451 0.00912
NM_002103.5(GYS1):c.*450G>A rs3745693 0.00414
NM_002103.5(GYS1):c.*421A>G rs181566066 0.00098
NM_002103.5(GYS1):c.*611C>T rs370792196 0.00003

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