Variants in gene SLC2A1 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status:		Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.894C>T (p.Phe298=)	rs140825318	0.00073
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)	rs78388808	0.00068
NM_006516.4(SLC2A1):c.276-7T>C	rs369273744	0.00054
NM_006516.4(SLC2A1):c.498C>T (p.Val166=)	rs150971143	0.00036
NM_006516.4(SLC2A1):c.972+7del	rs531385270	0.00016
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=)	rs201989024	0.00008
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)	rs141619735	0.00007
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=)	rs147319894	0.00007
NM_006516.4(SLC2A1):c.276-8G>A	rs373084446	0.00005
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=)	rs55693364	0.00004
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=)	rs202060209	0.00002
NM_006516.4(SLC2A1):c.679+4C>A	rs139492241
NM_006516.4(SLC2A1):c.679+4C>T	rs139492241

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.