List of variants reported for Glycogen storage disease, type VII by Pars Genome Lab

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000289.6(PFKM):c.1880+27A>G	rs4075913	0.78311
NM_000289.6(PFKM):c.428-39G>A	rs2269933	0.29774
NM_000289.6(PFKM):c.2334T>G (p.Ala778=)	rs8716	0.28514
NM_001166686.2(PFKM):c.5A>T (p.His2Leu)	rs11609399	0.21767
NM_000289.6(PFKM):c.639-85T>C	rs2286020	0.19143
NM_000289.6(PFKM):c.516C>T (p.Thr172=)	rs1049392	0.18973
NM_000289.6(PFKM):c.2093-14A>G	rs11168427	0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln)	rs2228500	0.16379
NM_000289.6(PFKM):c.-8-86G>T	rs2269935	0.16268
NM_000289.6(PFKM):c.427+52G>A	rs41291961	0.06210
NM_000289.6(PFKM):c.1880+32G>C	rs4075914	0.06152
NM_000289.6(PFKM):c.237+73G>T	rs78042191	0.01997
NM_000289.6(PFKM):c.1342-14G>T	rs56117548	0.01990
NM_000289.6(PFKM):c.306C>T (p.Ala102=)	rs11552507	0.01954
NM_000289.6(PFKM):c.638+161C>T	rs2286021

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