ClinVar Miner

List of variants in gene PNKP reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_007254.4(PNKP):c.893C>T (p.Ala298Val) rs145615734 0.00037
NM_007254.4(PNKP):c.308C>T (p.Thr103Ile) rs115419706 0.00033
NM_007254.4(PNKP):c.587A>G (p.Tyr196Cys) rs138931842 0.00033
NM_007254.4(PNKP):c.671G>A (p.Arg224His) rs199705876 0.00025
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter) rs774995635 0.00019
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151 0.00019
NM_007254.4(PNKP):c.1412A>T (p.His471Leu) rs142032281 0.00015
NM_007254.4(PNKP):c.1298+2_1298+5dup rs776617733 0.00013
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser) rs201221600 0.00013
NM_007254.4(PNKP):c.730G>C (p.Gly244Arg) rs562480894 0.00013
NM_007254.4(PNKP):c.1211G>A (p.Arg404His) rs549069697 0.00012
NM_007254.4(PNKP):c.275C>T (p.Thr92Ile) rs780440711 0.00010
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys) rs761117623 0.00010
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser) rs373922574 0.00010
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln) rs780121125 0.00006
NM_007254.4(PNKP):c.1397T>C (p.Met466Thr) rs145886749 0.00006
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_007254.4(PNKP):c.1324G>A (p.Gly442Ser) rs372459137 0.00004
NM_007254.4(PNKP):c.1120C>T (p.Pro374Ser) rs760583725 0.00002
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg) rs144257114 0.00002
NM_007254.4(PNKP):c.1048G>C (p.Gly350Arg) rs750098786 0.00001
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu) rs797045891 0.00001
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079 0.00001
NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys) rs768304312 0.00001
NM_007254.4(PNKP):c.1255G>A (p.Val419Ile) rs756416098 0.00001
NM_007254.4(PNKP):c.125C>G (p.Thr42Arg) rs750026030 0.00001
NM_007254.4(PNKP):c.1384C>T (p.Arg462Trp) rs778893834 0.00001
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr) rs766655539 0.00001
NM_007254.4(PNKP):c.1432G>A (p.Val478Ile) rs796052857 0.00001
NM_007254.4(PNKP):c.178C>G (p.Arg60Gly) rs761948305 0.00001
NM_007254.4(PNKP):c.329G>A (p.Arg110His) rs867937617 0.00001
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln) rs570013652 0.00001
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701 0.00001
NM_007254.4(PNKP):c.763G>A (p.Ala255Thr) rs398124249 0.00001
NM_007254.4(PNKP):c.776G>A (p.Arg259Gln) rs1358481768 0.00001
NM_007254.4(PNKP):c.101G>T (p.Gly34Val)
NM_007254.4(PNKP):c.1060C>T (p.Leu354Phe)
NM_007254.4(PNKP):c.1098G>C (p.Glu366Asp) rs755340060
NM_007254.4(PNKP):c.1154A>T (p.His385Leu)
NM_007254.4(PNKP):c.1156C>T (p.Leu386Phe) rs1568659595
NM_007254.4(PNKP):c.1189-3C>T rs1568659329
NM_007254.4(PNKP):c.1291C>T (p.Arg431Cys)
NM_007254.4(PNKP):c.1299-5C>A
NM_007254.4(PNKP):c.1358C>A (p.Thr453Asn) rs1455514180
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1360C>G (p.Leu454Val) rs200611702
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp) rs775762473
NM_007254.4(PNKP):c.1412A>C (p.His471Pro) rs142032281
NM_007254.4(PNKP):c.1420G>T (p.Val474Leu)
NM_007254.4(PNKP):c.1496T>C (p.Leu499Pro)
NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly) rs148669160
NM_007254.4(PNKP):c.178C>T (p.Arg60Trp) rs761948305
NM_007254.4(PNKP):c.266T>C (p.Val89Ala)
NM_007254.4(PNKP):c.286G>C (p.Val96Leu)
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu) rs587784367
NM_007254.4(PNKP):c.310C>G (p.Leu104Val)
NM_007254.4(PNKP):c.386AGA[1] (p.Lys130del)
NM_007254.4(PNKP):c.394G>C (p.Asp132His) rs1555811583
NM_007254.4(PNKP):c.46C>G (p.Pro16Ala)
NM_007254.4(PNKP):c.470C>T (p.Thr157Ile)
NM_007254.4(PNKP):c.538C>T (p.Arg180Cys) rs3739185
NM_007254.4(PNKP):c.589C>A (p.Pro197Thr) rs201968000
NM_007254.4(PNKP):c.615G>C (p.Glu205Asp)
NM_007254.4(PNKP):c.666C>G (p.Ile222Met) rs587784369
NM_007254.4(PNKP):c.716T>C (p.Val239Ala) rs1568661537
NM_007254.4(PNKP):c.722A>C (p.Glu241Ala)
NM_007254.4(PNKP):c.803A>G (p.His268Arg)
NM_007254.4(PNKP):c.821_841del (p.Asn274_Ser280del) rs1555811217
NM_007254.4(PNKP):c.824A>G (p.Asp275Gly) rs1470797052
NM_007254.4(PNKP):c.855C>G (p.Ile285Met)
NM_007254.4(PNKP):c.928G>C (p.Asp310His)
NM_007254.4(PNKP):c.973GAG[1] (p.Glu326del)
NM_007254.4(PNKP):c.991T>C (p.Trp331Arg)

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.