ClinVar Miner

List of variants reported as pathogenic for childhood onset GLUT1 deficiency syndrome 2 by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_006516.3(SLC2A1):c.101A>T (p.Asn34Ile) rs80359812
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.823G>A (p.Ala275Thr) rs121909740
NM_006516.3(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
SLC2A1, 12-BP DEL, NT1022
SLC2A1, 3-BP INS, TAT

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