List of variants reported as likely benign for Glycogen storage disease, type VII by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000289.6(PFKM):c.1338G>A (p.Gly446=)	rs150378513	0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys)	rs145040928	0.00243
NM_000289.6(PFKM):c.2199-12A>G	rs202008060	0.00204
NM_000289.6(PFKM):c.702A>T (p.Pro234=)	rs138022863	0.00185
NM_000289.6(PFKM):c.1500+29C>T	rs138256599	0.00183
NM_000289.6(PFKM):c.459C>T (p.Ser153=)	rs145519821	0.00021
NM_000289.6(PFKM):c.1501-15C>T	rs756212415	0.00008
NM_000289.6(PFKM):c.1212T>C (p.Ala404=)	rs1203272613	0.00005
NM_000289.6(PFKM):c.1063-18G>A	rs531023136	0.00004
NC_000012.12:g.48107385C>T
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys)	rs1555206566
NM_000289.6(PFKM):c.150T>C (p.Phe50=)

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