List of variants studied for Glycogen storage disease due to muscle and heart glycogen synthase deficiency by Baylor Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn)	rs573897595	0.00009
NM_002103.5(GYS1):c.1436C>T (p.Pro479Leu)	rs144681053	0.00007
NM_002103.5(GYS1):c.1303A>G (p.Thr435Ala)	rs775775270	0.00002
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met)	rs748765779	0.00001
NM_002103.5(GYS1):c.314G>A (p.Arg105His)	rs775388088	0.00001

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