List of variants studied for GLUT1 deficiency syndrome by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)	rs267607061	0.00001
NC_000001.11:g.(?_42925375)_(42959176_?)del
NM_006516.4(SLC2A1):c.101A>T (p.Asn34Ile)	rs80359812
NM_006516.4(SLC2A1):c.1347C>A (p.Tyr449Ter)	rs80359828
NM_006516.4(SLC2A1):c.1366A>T (p.Lys456Ter)	rs80359829
NM_006516.4(SLC2A1):c.272G>A (p.Gly91Asp)	rs80359814
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)	rs202060209
NM_006516.4(SLC2A1):c.283_284delinsAT (p.Ser95Ile)	rs267607060
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	rs80359818
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)	rs80359816
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)	rs121909740
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)	rs2124448824
NM_006516.4(SLC2A1):c.876_878dup (p.Tyr293_Ser294insTyr)	rs2124448406
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)	rs121909739

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