List of variants in gene SLC2A1 reported as pathogenic by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys)	rs796053263
NM_006516.4(SLC2A1):c.1236G>A (p.Trp412Ter)	rs1557645002
NM_006516.4(SLC2A1):c.1263C>A (p.Cys421Ter)	rs1643441134
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del)	rs864309522
NM_006516.4(SLC2A1):c.1399_1405dup (p.Gln469fs)	rs1264369249
NM_006516.4(SLC2A1):c.1A>T (p.Met1Leu)
NM_006516.4(SLC2A1):c.257del (p.Phe86fs)	rs1643484307
NM_006516.4(SLC2A1):c.481C>T (p.Gln161Ter)	rs1413339367
NM_006516.4(SLC2A1):c.558G>A (p.Trp186Ter)	rs2124449417
NM_006516.4(SLC2A1):c.679+1G>C	rs1553156086
NM_006516.4(SLC2A1):c.680-11G>A	rs1259158687
NM_006516.4(SLC2A1):c.808C>T (p.Gln270Ter)	rs1553156053
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)	rs80359825

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.