List of variants in gene combination GYS1, LOC130064895 reported as uncertain significance for Glycogen storage disease due to muscle and heart glycogen synthase deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002103.5(GYS1):c.117G>C (p.Lys39Asn)	rs1340897578	0.00001
NM_002103.5(GYS1):c.114C>G (p.Asn38Lys)	rs769788885
NM_002103.5(GYS1):c.118+3_118+4delinsAG

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