List of variants in gene GYS1, LOC119369037 studied for Glycogen storage disease due to muscle and heart glycogen synthase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_002103.5(GYS1):c.1551T>G (p.Ala517=)	rs368021148	0.00008
NM_002103.5(GYS1):c.1589A>G (p.Asn530Ser)	rs374401394	0.00002
NM_002103.5(GYS1):c.1559C>T (p.Thr520Met)	rs747911098	0.00001
NM_002103.5(GYS1):c.1572C>T (p.Ile524=)	rs529330816	0.00001
NM_002103.5(GYS1):c.1594T>A (p.Ser532Thr)	rs2038555927	0.00001
NM_002103.5(GYS1):c.1624A>G (p.Ile542Val)	rs768029465	0.00001
NM_002103.5(GYS1):c.1550-10C>T	rs2038557112
NM_002103.5(GYS1):c.1550-16T>A
NM_002103.5(GYS1):c.1550-17C>G	rs2513706288
NM_002103.5(GYS1):c.1550-18T>C
NM_002103.5(GYS1):c.1568G>A (p.Gly523Glu)	rs2122462376
NM_002103.5(GYS1):c.1596C>A (p.Ser532=)
NM_002103.5(GYS1):c.1602C>T (p.Phe534=)	rs778452686
NM_002103.5(GYS1):c.1615G>T (p.Glu539Ter)	rs561646250
NM_002103.5(GYS1):c.1626C>A (p.Ile542=)
NM_002103.5(GYS1):c.1634C>T (p.Pro545Leu)	rs1314889558
NM_002103.5(GYS1):c.1645+12G>A	rs2513706002
NM_002103.5(GYS1):c.1645+18T>C	rs1287268018
NM_002103.5(GYS1):c.1645+1G>A	rs370779569

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