List of variants reported as pathogenic for Polyglucosan body myopathy type 2

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Total variants: 5

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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.143+3G>C	rs370652040	0.00016
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter)	rs727502869	0.00001
NM_004130.4(GYG1):c.487del (p.Asp163fs)	rs727502871
NM_004130.4(GYG1):c.749G>A (p.Trp250Ter)	rs727502870

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