List of variants reported as benign for Childhood onset GLUT1 deficiency syndrome 2 by Genome-Nilou Lab

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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.-197A>C	rs11537640	0.23186
NM_006516.2(SLC2A1):c.-390delA	rs28365848	0.23160
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=)	rs1385129	0.21537
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=)	rs11537641	0.16943
NM_006516.2(SLC2A1):c.-490G>C	rs3754226	0.14227
NM_006516.4(SLC2A1):c.966C>T (p.Val322=)	rs2229680	0.06553
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=)	rs2228490	0.04552
NM_006516.4(SLC2A1):c.-190G>C	rs114514007	0.01675
NM_006516.4(SLC2A1):c.19-207T>C	rs41310434	0.01173
NM_006516.4(SLC2A1):c.973-17A>G	rs111596088	0.01025
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=)	rs144538918	0.00517
NM_006516.4(SLC2A1):c.680-12C>T	rs150960456	0.00088
NM_006516.4(SLC2A1):c.*22G>A	rs2229683	0.00081
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=)	rs2236574	0.00081
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=)	rs13306758	0.00070
NM_006516.4(SLC2A1):c.275+17C>T	rs761669510	0.00061
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His)	rs149998596	0.00014
NM_006516.4(SLC2A1):c.517-18G>A	rs372553463	0.00013
NM_006516.4(SLC2A1):c.-26G>C	rs375001117	0.00009
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=)	rs147319894	0.00007
NM_006516.4(SLC2A1):c.19-12G>A	rs372344816	0.00006
NM_006516.4(SLC2A1):c.19-5C>T	rs376653618	0.00006
NM_006516.4(SLC2A1):c.276-9C>T	rs529579952	0.00005
NM_006516.4(SLC2A1):c.276-19C>T	rs74945664	0.00004
NM_006516.4(SLC2A1):c.1278+9C>G	rs550156548	0.00002
NM_006516.4(SLC2A1):c.1011C>T (p.His337=)	rs2229681
NM_006516.4(SLC2A1):c.1278+12del	rs368437445
NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT	rs2124446051
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=)	rs2229682
NM_006516.4(SLC2A1):c.679+7G>C	rs13306757
NM_006516.4(SLC2A1):c.679+7G>T	rs13306757

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