List of variants studied for GLUT1 deficiency syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)	rs78388808	0.00068
NM_006516.4(SLC2A1):c.543C>T (p.Gly181=)	rs377674001	0.00008
NM_006516.4(SLC2A1):c.680-10G>T	rs587784394	0.00001
NM_006516.2(SLC2A1):c.19_28delAAGCTGACGG (p.Lys7Valfs)	rs587784393
NM_006516.4(SLC2A1):c.1007_1009del (p.Leu336del)	rs587784389
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp)	rs587784390
NM_006516.4(SLC2A1):c.1089del (p.Pro362_Trp363insTer)	rs587784391
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)	rs80359816
NM_006516.4(SLC2A1):c.49G>T (p.Gly17Ter)	rs1345986424
NM_006516.4(SLC2A1):c.679+4C>A	rs139492241
NM_006516.4(SLC2A1):c.748C>T (p.Gln250Ter)	rs587784396
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)	rs121909740
NM_006516.4(SLC2A1):c.847C>T (p.Gln283Ter)	rs587784397
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)	rs80359823
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)	rs80359825

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