ClinVar Miner

List of variants in gene GNPTG reported by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032520.5(GNPTG):c.610-2A>G rs193302855 0.00004
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser) rs137852885 0.00001
NM_032520.5(GNPTG):c.527-10G>A rs1336176104 0.00001
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs) rs756959430
NM_032520.4(GNPTG):c.611delG rs193302856
NM_032520.5(GNPTG):c.333G>A (p.Trp111Ter) rs137852884
NM_032520.5(GNPTG):c.610-1G>T rs193302854
NM_032520.5(GNPTG):c.639del (p.Phe213fs) rs193302858
NM_032520.5(GNPTG):c.640_667del (p.Glu214fs) rs193302859

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.