ClinVar Miner

List of variants reported as 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_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_002103.5(GYS1):c.1026C>T (p.Phe342=) rs5464 0.28606
NM_002103.5(GYS1):c.-182T>G rs2287755 0.09494
NM_002103.5(GYS1):c.-125C>T rs2287754 0.07560
NM_002103.5(GYS1):c.693G>A (p.Lys231=) rs5460 0.01328
NM_002103.5(GYS1):c.420A>G (p.Gly140=) rs5458 0.01301
NM_002103.5(GYS1):c.1549+7G>A rs5449 0.01125
NM_002103.5(GYS1):c.-19C>A rs2287753 0.00068
NM_002103.5(GYS1):c.556G>A (p.Val186Ile) rs138330298 0.00059
NM_002103.5(GYS1):c.492+9C>T rs191213443 0.00050
NM_002103.5(GYS1):c.354C>T (p.Asp118=) rs374959862 0.00004
NM_002103.5(GYS1):c.1749C>A (p.Ile583=) rs146698792

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