ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_002103.5(GYS1):c.1926G>A (p.Val642=) rs5451 0.00912
NM_002103.5(GYS1):c.2013C>T (p.Asp671=) rs5452 0.00624
NM_002103.5(GYS1):c.1848C>T (p.Ala616=) rs145789213 0.00163
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) rs142265031 0.00023
NM_002103.5(GYS1):c.1749C>A (p.Ile583=) rs146698792

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