ClinVar Miner

List of variants in gene GYG1 reported as benign for Glycogen storage disease XV; Polyglucosan body myopathy 2

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Total variants: 8
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HGVS dbSNP
NM_004130.3(GYG1):c.114C>T (p.Leu38=) rs61733452
NM_004130.3(GYG1):c.137C>G (p.Ser46Cys) rs142784073
NM_004130.3(GYG1):c.159A>G (p.Thr53=) rs148619511
NM_004130.3(GYG1):c.319-12C>T rs114156848
NM_004130.3(GYG1):c.452A>T (p.His151Leu) rs35054019
NM_004130.3(GYG1):c.552G>A (p.Pro184=) rs4938
NM_004130.3(GYG1):c.609G>A (p.Val203=) rs75445811
NM_004130.4(GYG1):c.1041T>A (p.Thr347=)

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