ClinVar Miner

List of variants in gene PTF1A reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) rs7918487 0.51842
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) rs535090775 0.00423
NM_178161.3(PTF1A):c.499G>A (p.Ala167Thr) rs565666569 0.00001
NM_178161.3(PTF1A):c.532del (p.Ser178fs) rs2131680472
NM_178161.3(PTF1A):c.785-10A>G rs1554799853

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.