List of variants studied for lysosomal glycogen storage disease by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00384
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)	rs28937909	0.00002
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)	rs1393386120	0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)	rs536906561	0.00001
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)	rs202095215
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro)	rs2143866454
NM_000152.5(GAA):c.1453A>C (p.Thr485Pro)	rs1337100943
NM_000152.5(GAA):c.1663G>C (p.Ala555Pro)
NM_000152.5(GAA):c.1673G>A (p.Cys558Tyr)
NM_000152.5(GAA):c.1703A>G (p.His568Arg)
NM_000152.5(GAA):c.1819_1836del (p.Gly607_His612del)
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg)	rs1327361418
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)	rs368438393
NM_000152.5(GAA):c.2092_2099del (p.Ala698fs)
NM_000152.5(GAA):c.2122del (p.His708fs)
NM_000152.5(GAA):c.2834_2835del (p.Glu945fs)
NM_000152.5(GAA):c.794G>A (p.Ser265Asn)	rs772002851
NM_000152.5(GAA):c.844G>C (p.Asp282His)

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