List of variants in gene combination GYS1, LOC119369037 reported as likely benign 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: 7

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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.1572C>T (p.Ile524=)	rs529330816	0.00001
NM_002103.5(GYS1):c.1550-10C>T	rs2038557112
NM_002103.5(GYS1):c.1550-17C>G
NM_002103.5(GYS1):c.1602C>T (p.Phe534=)
NM_002103.5(GYS1):c.1645+12G>A
NM_002103.5(GYS1):c.1645+18T>C

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