List of variants reported as pathogenic for Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000158.4(GBE1):c.708G>C (p.Gln236His)	rs137852892	0.00003
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter)	rs137852894	0.00001
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)	rs137852893	0.00001
NM_000158.4(GBE1):c.(992+1_993-1)_(1618+1_1619-1)del (p.Ser331Argfs)
NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter)	rs137852890
NM_000158.4(GBE1):c.691+5G>C	rs397515344
NM_000158.4(GBE1):c.783-1G>A	rs397515342
NM_000158.4:c.430_782del

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