ClinVar Miner

List of variants in gene PCARE reported as uncertain significance by Blueprint Genetics

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_001029883.3(PCARE):c.2083G>A (p.Glu695Lys) rs769814461 0.00007
NM_001029883.3(PCARE):c.2590G>A (p.Glu864Lys) rs1013795356 0.00001
NM_001029883.3(PCARE):c.402T>G (p.Ser134Arg) rs1667541157
NM_001029883.3(PCARE):c.845_865del (p.Asn282_Leu288del) rs1667528912
NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr) rs1420546201

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.