List of variants reported as likely pathogenic for Glycogen storage disease, type VI by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002863.5(PYGL):c.1722C>A (p.Tyr574Ter)	rs2503490903
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg)	rs539898848
NM_002863.5(PYGL):c.407dup (p.Leu137fs)	rs2503527725
NM_002863.5(PYGL):c.715_716del (p.Val239fs)	rs750699019
NM_002863.5(PYGL):c.916C>T (p.Gln306Ter)	rs2503501168

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