List of variants in gene GYS1, LOC130064895 studied for Glycogen storage disease due to muscle and heart glycogen synthase deficiency

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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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+10C>T	rs2122549543
NM_002103.5(GYS1):c.118+18C>A	rs776546579
NM_002103.5(GYS1):c.118+3_118+4delinsAG

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