ClinVar Miner

List of variants in gene GYS1, LOC130064896 studied for Glycogen storage disease due to muscle and heart glycogen synthase deficiency

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002103.5(GYS1):c.-182T>G rs2287755 0.09792
NM_002103.5(GYS1):c.-125C>T rs2287754 0.07560
NM_002103.4(GYS1):c.-199T>C rs770497351 0.00006
NM_002103.5(GYS1):c.-171A>T rs766268073 0.00003
NM_002103.4(GYS1):c.-253delG rs370753423
NM_002103.5(GYS1):c.-157C>T rs748554746
NM_002103.5(GYS1):c.-172T>C rs886054574
NM_002103.5(GYS1):c.-195T>A rs2038974225

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