List of variants in gene GYG1 reported as likely pathogenic for Glycogen storage disease XV; 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_004130.4(GYG1):c.304G>C (p.Asp102His)	rs143137713	0.00109
NM_004130.4(GYG1):c.481+2T>C	rs1173594490	0.00001
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter)	rs727502869	0.00001
NM_004130.4(GYG1):c.482-1G>C

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