Variants in gene SLC2A1 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status:		Submission 2 (likely pathogenic) 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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His)	rs374080633	0.00004
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln)	rs80359815	0.00001
NM_006516.4(SLC2A1):c.695G>A (p.Arg232His)	rs139412383	0.00001
NM_006516.4(SLC2A1):c.865G>A (p.Ala289Thr)	rs796053252	0.00001
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp)	rs267607059
NM_006516.4(SLC2A1):c.275G>A (p.Arg92Gln)
NM_006516.4(SLC2A1):c.523G>C (p.Gly175Arg)	rs1085308009
NM_006516.4(SLC2A1):c.593T>C (p.Leu198Pro)	rs2124449372
NM_006516.4(SLC2A1):c.631C>T (p.Pro211Ser)	rs796053247
NM_006516.4(SLC2A1):c.643C>T (p.Leu215Phe)	rs1570592813
NM_006516.4(SLC2A1):c.937T>C (p.Ser313Pro)	rs886041633
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys)	rs2124448063

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.