List of variants reported as 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.2334T>G (p.Ala778=)	rs8716	0.28514
NM_001166686.2(PFKM):c.5A>T (p.His2Leu)	rs11609399	0.21767
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.246G>A (p.Thr82=)	rs2228501	0.06196
NM_000289.6(PFKM):c.1500+32C>T	rs41291967	0.02028
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.2087G>A (p.Arg696His)	rs41291971	0.01088
NM_000289.6(PFKM):c.888G>A (p.Leu296=)	rs753083173	0.00001
NM_000289.6(PFKM):c.1413-58C>A	rs78496902

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