ClinVar Miner

List of variants in gene GFPT1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001244710.2(GFPT1):c.501T>G (p.Asp167Glu) rs746801112 0.00001
NM_001244710.2(GFPT1):c.572G>A (p.Ser191Asn) rs1445774342 0.00001
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001244710.2(GFPT1):c.1384G>T (p.Val462Leu)
NM_001244710.2(GFPT1):c.1482G>C (p.Lys494Asn) rs1670840058
NM_001244710.2(GFPT1):c.1588C>T (p.Arg530Trp) rs1024585946
NM_001244710.2(GFPT1):c.160G>T (p.Ala54Ser) rs1574080766
NM_001244710.2(GFPT1):c.229C>G (p.Gln77Glu) rs143036820
NM_001244710.2(GFPT1):c.314T>G (p.Val105Gly) rs929836832
NM_001244710.2(GFPT1):c.611G>A (p.Gly204Asp) rs2104648108
NM_001244710.2(GFPT1):c.961G>A (p.Gly321Arg)
NM_002056.4(GFPT1):c.476T>C (p.Met159Thr) rs2104655697

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.