List of variants studied for childhood onset GLUT1 deficiency syndrome 2 by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)	rs267607061	0.00001
NM_006516.4(SLC2A1):c.101A>T (p.Asn34Ile)	rs80359812
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)	rs202060209
NM_006516.4(SLC2A1):c.283_284delinsAT (p.Ser95Ile)	rs267607060
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	rs80359818
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)	rs121909740
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)	rs2124448824
NM_006516.4(SLC2A1):c.876_878dup (p.Tyr293_Ser294insTyr)	rs2124448406
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)	rs121909739

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.