ClinVar Miner

List of variants in gene PC 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: 15
Download table as spreadsheet
HGVS dbSNP
NM_001040716.2(PC):c.1022+1G>A rs1555025823
NM_001040716.2(PC):c.1368+1G>A rs755640269
NM_001040716.2(PC):c.1369-1G>C
NM_001040716.2(PC):c.1514-2A>G
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145
NM_001040716.2(PC):c.3141_3142delinsA (p.Phe1048fs) rs1555014332
NM_001040716.2(PC):c.3306dup (p.Lys1103fs)
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs) rs1555013840
NM_001040716.2(PC):c.52C>T (p.Arg18Ter) rs144583275
NM_001040716.2(PC):c.633+2T>C rs763433647
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839
NM_001040716.2(PC):c.815A>G (p.Gln272Arg) rs1591186383
NM_001040716.2(PC):c.903+2T>A
NM_022172.2(PC):c.[2095G>A];[2095G>T]

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.