ClinVar Miner

List of variants in gene PCCA reported as benign by Eurofins NTD LLC (GA)

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_000282.4(PCCA):c.914+19A>G rs4306370 0.92464
NM_000282.4(PCCA):c.1644-31A>G rs9518061 0.66246
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229 0.14245
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_000282.4(PCCA):c.1429+7A>G rs16957276 0.01356
NM_000282.4(PCCA):c.2119-43T>C rs150390822 0.00754
NM_000282.4(PCCA):c.1284+16G>A rs113610934 0.00169
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.231+47_231+50del rs147037340

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.