ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NC_000013.10:g.(?_100953694)_(100962182_?)dup
NC_000013.11:g.(?_100154969)_(100273356_?)del
NC_000013.11:g.(?_100301450)_(100425741_?)del
NC_000013.11:g.(?_100449242)_(100491683_?)del
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.106-1G>A
NM_000282.4(PCCA):c.1065+1G>C
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) rs1443858896
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907
NM_000282.4(PCCA):c.183+1G>A
NM_000282.4(PCCA):c.1846-1G>T
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) rs796052018
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.2041-1G>T rs1367867218
NM_000282.4(PCCA):c.2119-9A>G rs1389933015
NM_000282.4(PCCA):c.232-2A>G
NM_000282.4(PCCA):c.232-2A>T
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.637+1G>A
NM_000282.4(PCCA):c.637+2T>A
NM_000282.4(PCCA):c.717-2A>G
NM_000282.4(PCCA):c.820-1G>A
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000282.4(PCCA):c.915-1G>C rs367615795

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.