List of variants in gene GYG1 reported as benign for polyglucosan body myopathy type 2

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_004130.4(GYG1):c.552G>A (p.Pro184=)	rs4938	0.29862
NM_004130.4(GYG1):c.114C>T (p.Leu38=)	rs61733452	0.04021
NM_004130.4(GYG1):c.319-12C>T	rs114156848	0.00990
NM_004130.4(GYG1):c.159A>G (p.Thr53=)	rs148619511	0.00795
NM_004130.4(GYG1):c.608+14G>C	rs200902926	0.00366
NM_004130.4(GYG1):c.609G>A (p.Val203=)	rs75445811	0.00188
NM_004130.4(GYG1):c.439A>G (p.Asn147Asp)	rs140175164	0.00087
NM_004130.4(GYG1):c.60G>A (p.Leu20=)	rs145419359	0.00026
NM_004130.4(GYG1):c.1041T>A (p.Thr347=)	rs202027758	0.00022
NM_004130.4(GYG1):c.829-13G>A	rs188887329	0.00021
NM_004130.4(GYG1):c.499C>T (p.Leu167=)	rs551623234	0.00003
NM_004130.4(GYG1):c.137C>G (p.Ser46Cys)	rs142784073	0.00001
NM_004130.4(GYG1):c.452A>T (p.His151Leu)	rs35054019
NM_004130.4(GYG1):c.482-8del
NM_004130.4(GYG1):c.482-8dup	rs765704284

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