ClinVar Miner

List of variants studied for childhood onset GLUT1 deficiency syndrome 2

Included ClinVar conditions (3):
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Total variants: 28
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HGVS dbSNP
NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735
NM_006516.3(SLC2A1):c.101A>T (p.Asn34Ile) rs80359812
NM_006516.3(SLC2A1):c.1060G>A (p.Ala354Thr) rs780529723
NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.3(SLC2A1):c.1395C>T (p.Ser465=) rs75852730
NM_006516.3(SLC2A1):c.161dup (p.Ser55fs) rs1557646867
NM_006516.3(SLC2A1):c.188C>T (p.Thr63Met) rs200828053
NM_006516.3(SLC2A1):c.19-2A>G rs796053272
NM_006516.3(SLC2A1):c.192C>G (p.Leu64=) rs762583668
NM_006516.3(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.3(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061
NM_006516.3(SLC2A1):c.283_284delinsAT (p.Ser95Ile) rs267607060
NM_006516.3(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402
NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.3(SLC2A1):c.517-1G>C rs869312673
NM_006516.3(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.3(SLC2A1):c.75G>A (p.Gln25=) rs1557651193
NM_006516.3(SLC2A1):c.823G>A (p.Ala275Thr) rs121909740
NM_006516.3(SLC2A1):c.844_855del (p.Gln282_Ser285del) rs1553156047
NM_006516.3(SLC2A1):c.938C>T (p.Ser313Phe) rs794727870
NM_006516.3(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) rs80359826
NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val)
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly)
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile)
SLC2A1, 12-BP DEL, NT1022
SLC2A1, 3-BP INS, TAT

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