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

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000146.4(FTL):c.163T>C (p.Leu55=)	rs2230267	0.51379
NM_002103.5(GYS1):c.*725C>T	rs1042265	0.08927
NM_002103.5(GYS1):c.1926G>A (p.Val642=)	rs5451	0.00912
NM_002103.5(GYS1):c.2013C>T (p.Asp671=)	rs5452	0.00624
NM_002103.5(GYS1):c.*450G>A	rs3745693	0.00414
NM_002103.5(GYS1):c.*301G>A	rs147489255	0.00165
NM_002103.5(GYS1):c.1848C>T (p.Ala616=)	rs145789213	0.00163
NM_002103.5(GYS1):c.*421A>G	rs181566066	0.00098
NM_002103.5(GYS1):c.2043C>T (p.Ala681=)	rs142265031	0.00023
NM_002103.5(GYS1):c.*370A>C	rs185366453	0.00015
NM_002103.5(GYS1):c.*659C>T	rs367578611	0.00006
NM_002103.5(GYS1):c.2207G>A (p.Arg736His)	rs367919986	0.00004
NM_002103.5(GYS1):c.*611C>T	rs370792196	0.00003
NM_002103.5(GYS1):c.1113_1116del	rs148396922
NM_002103.5(GYS1):c.1749C>A (p.Ile583=)	rs146698792

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