ClinVar Miner

List of variants in gene PC reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001040716.2(PC):c.1368+1G>T rs755640269 0.00001
NM_001040716.2(PC):c.633+2T>C rs763433647 0.00001
NM_001040716.2(PC):c.136+1G>T
NM_001040716.2(PC):c.1369-1G>C rs2135822173
NM_001040716.2(PC):c.1514-2A>G rs1945585636
NM_001040716.2(PC):c.1825+1G>A rs1565214970
NM_001040716.2(PC):c.1826-1G>C
NM_001040716.2(PC):c.2473+1G>C rs1304770743
NM_001040716.2(PC):c.2473+2T>C
NM_001040716.2(PC):c.2898+2T>C rs2135791416
NM_001040716.2(PC):c.2898+2_2898+5del
NM_001040716.2(PC):c.3147+2T>C rs2135788673
NM_001040716.2(PC):c.322-2A>G rs2135940951
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs) rs113994148
NM_001040716.2(PC):c.903+2T>A rs1946669738

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.