ClinVar Miner

List of variants in gene SLC2A1 reported as likely pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_006516.3(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006516.3(SLC2A1):c.102T>G (p.Asn34Lys) rs1570601007
NM_006516.3(SLC2A1):c.1199_1200insGAG (p.Pro401_Ala402insSer) rs1570590905
NM_006516.3(SLC2A1):c.1234T>G (p.Trp412Gly) rs1570590859
NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.3(SLC2A1):c.458G>T (p.Arg153Leu) rs794727642
NM_006516.3(SLC2A1):c.46_47insCTCCTCA (p.Val16fs) rs1570601060
NM_006516.3(SLC2A1):c.621_629del (p.Glu209_Pro211del) rs1557646075
NM_006516.3(SLC2A1):c.635G>A (p.Arg212His) rs886039517
NM_006516.3(SLC2A1):c.938C>T (p.Ser313Phe) rs794727870
NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006516.3(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val) rs1570590528
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr)
NM_006516.4(SLC2A1):c.339del (p.Lys114fs)
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg)
NM_006516.4(SLC2A1):c.692T>C (p.Leu231Pro)
NM_006516.4(SLC2A1):c.731T>C (p.Met244Thr)
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile)

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.