ClinVar Miner

List of variants in gene SLC2A1 reported as pathogenic for childhood onset GLUT1 deficiency syndrome 2

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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NM_006516.3(SLC2A1):c.101A>T (p.Asn34Ile) rs80359812
NM_006516.3(SLC2A1):c.161dup (p.Ser55fs) rs1557646867
NM_006516.3(SLC2A1):c.19-2A>G rs796053272
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.376C>T (p.Arg126Cys) rs80359818
NM_006516.3(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
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.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
SLC2A1, 12-BP DEL, NT1022

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