ClinVar Miner

List of variants in gene PEX19 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 210
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002857.4(PEX19):c.261C>T (p.Phe87=) rs146644725 0.00206
NM_002857.4(PEX19):c.*864C>T rs144938105 0.00132
NM_002857.4(PEX19):c.181-5C>T rs199818690 0.00109
NM_002857.4(PEX19):c.459G>A (p.Leu153=) rs78340311 0.00098
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys) rs145845197 0.00093
NM_002857.4(PEX19):c.*1069G>A rs542626903 0.00084
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu) rs142780305 0.00067
NM_002857.4(PEX19):c.-4C>T rs201541204 0.00053
NM_002857.4(PEX19):c.*1335G>T rs748536788 0.00044
NM_002857.4(PEX19):c.254C>T (p.Ala85Val) rs11550119 0.00041
NM_002857.4(PEX19):c.402T>C (p.Ser134=) rs139828188 0.00036
NM_002857.4(PEX19):c.*2717A>G rs574056299 0.00032
NM_002857.4(PEX19):c.878G>C (p.Gly293Ala) rs139875266 0.00029
NM_002857.4(PEX19):c.*2224G>T rs573966291 0.00021
NM_002857.4(PEX19):c.*2536A>G rs141829599 0.00021
NM_002857.4(PEX19):c.*1980T>C rs372976790 0.00018
NM_002857.4(PEX19):c.*2413C>T rs183164292 0.00018
NM_002857.4(PEX19):c.845C>T (p.Ala282Val) rs373092548 0.00016
NM_002857.4(PEX19):c.*77del rs771535781 0.00015
NM_002857.4(PEX19):c.*854G>A rs747191827 0.00014
NM_002857.4(PEX19):c.*1013G>A rs747057473 0.00011
NM_002857.4(PEX19):c.262G>A (p.Glu88Lys) rs372422266 0.00010
NM_002857.4(PEX19):c.857C>G (p.Ser286Trp) rs149976198 0.00010
NM_002857.4(PEX19):c.*1145C>T rs75916849 0.00008
NM_002857.4(PEX19):c.*1163T>C rs575199724 0.00008
NM_002857.4(PEX19):c.*1745T>C rs186821837 0.00007
NM_002857.4(PEX19):c.*1852C>G rs370387085 0.00007
NM_002857.4(PEX19):c.*1761C>A rs761868324 0.00006
NM_002857.4(PEX19):c.*2068T>C rs536872409 0.00006
NM_002857.4(PEX19):c.*427A>G rs886045447 0.00006
NM_002857.4(PEX19):c.347-7C>T rs753523567 0.00006
NM_002857.4(PEX19):c.488A>G (p.Asp163Gly) rs138174625 0.00006
NM_002857.4(PEX19):c.*1103C>T rs561417695 0.00005
NM_002857.4(PEX19):c.40G>C (p.Ala14Pro) rs747627762 0.00005
NM_002857.4(PEX19):c.*662C>T rs773981843 0.00004
NM_002857.4(PEX19):c.193G>A (p.Ala65Thr) rs376013124 0.00004
NM_002857.4(PEX19):c.215A>G (p.Gln72Arg) rs543271441 0.00004
NM_002857.4(PEX19):c.619C>T (p.Arg207Trp) rs367813991 0.00004
NM_002857.4(PEX19):c.*1592G>A rs779471097 0.00003
NM_002857.4(PEX19):c.*2555T>G rs148123121 0.00003
NM_002857.4(PEX19):c.*896A>G rs886045445 0.00003
NM_002857.4(PEX19):c.490G>A (p.Glu164Lys) rs370126224 0.00003
NM_002857.4(PEX19):c.670G>A (p.Val224Ile) rs372197333 0.00003
NM_002857.4(PEX19):c.763dup (p.Met255fs) rs267608186 0.00003
NM_002857.4(PEX19):c.856T>G (p.Ser286Ala) rs1272607089 0.00003
NM_002857.4(PEX19):c.863C>T (p.Pro288Leu) rs746472158 0.00003
NM_002857.3(PEX19):c.-17A>C rs748844578 0.00002
NM_002857.4(PEX19):c.*2383C>G rs369641116 0.00002
NM_002857.4(PEX19):c.143C>T (p.Ser48Leu) rs375153087 0.00002
NM_002857.4(PEX19):c.17A>G (p.Glu6Gly) rs181602818 0.00002
NM_002857.4(PEX19):c.272T>C (p.Met91Thr) rs747047470 0.00002
NM_002857.4(PEX19):c.435C>A (p.Asn145Lys) rs771657561 0.00002
NM_002857.4(PEX19):c.553A>G (p.Lys185Glu) rs765741144 0.00002
NM_002857.4(PEX19):c.696T>A (p.Phe232Leu) rs753324166 0.00002
NM_002857.4(PEX19):c.700G>T (p.Ala234Ser) rs760726802 0.00002
NM_002857.4(PEX19):c.*1330G>A rs886045442 0.00001
NM_002857.4(PEX19):c.*138C>T rs770138698 0.00001
NM_002857.4(PEX19):c.*1450T>A rs886045441 0.00001
NM_002857.4(PEX19):c.*2155C>T rs886045439 0.00001
NM_002857.4(PEX19):c.*469C>T rs886045446 0.00001
NM_002857.4(PEX19):c.*716C>A rs1201331563 0.00001
NM_002857.4(PEX19):c.*741C>T rs1288025465 0.00001
NM_002857.4(PEX19):c.*971G>A rs543861713 0.00001
NM_002857.4(PEX19):c.10G>T (p.Ala4Ser) rs1436027867 0.00001
NM_002857.4(PEX19):c.110C>T (p.Ala37Val) rs575112594 0.00001
NM_002857.4(PEX19):c.148C>A (p.Pro50Thr) rs1280706455 0.00001
NM_002857.4(PEX19):c.181G>A (p.Asp61Asn) rs1364910260 0.00001
NM_002857.4(PEX19):c.200A>C (p.Gln67Pro) rs755726384 0.00001
NM_002857.4(PEX19):c.31G>C (p.Gly11Arg) rs772905234 0.00001
NM_002857.4(PEX19):c.365A>G (p.Gln122Arg) rs1405573106 0.00001
NM_002857.4(PEX19):c.367C>G (p.Gln123Glu) rs1334997035 0.00001
NM_002857.4(PEX19):c.37G>C (p.Glu13Gln) rs868021380 0.00001
NM_002857.4(PEX19):c.424G>C (p.Asp142His) rs778927500 0.00001
NM_002857.4(PEX19):c.432+2T>C rs757078881 0.00001
NM_002857.4(PEX19):c.442A>G (p.Met148Val) rs905834830 0.00001
NM_002857.4(PEX19):c.484A>C (p.Met162Leu) rs1205563557 0.00001
NM_002857.4(PEX19):c.517C>T (p.Pro173Ser) rs1298851036 0.00001
NM_002857.4(PEX19):c.526C>G (p.Gln176Glu) rs1480182464 0.00001
NM_002857.4(PEX19):c.536T>G (p.Met179Arg) rs1234326495 0.00001
NM_002857.4(PEX19):c.57G>C (p.Glu19Asp) rs1170972153 0.00001
NM_002857.4(PEX19):c.594G>C (p.Lys198Asn) rs773909342 0.00001
NM_002857.4(PEX19):c.61C>G (p.Leu21Val) rs374112351 0.00001
NM_002857.4(PEX19):c.629T>C (p.Leu210Pro) rs775425209 0.00001
NM_002857.4(PEX19):c.667A>G (p.Ser223Gly) rs778154365 0.00001
NM_002857.4(PEX19):c.76C>A (p.Leu26Ile) rs146340199 0.00001
NM_002857.4(PEX19):c.772C>G (p.Leu258Val) rs752093054 0.00001
NM_002857.4(PEX19):c.858G>A (p.Ser286=) rs754510943 0.00001
NM_002857.4(PEX19):c.88G>A (p.Asp30Asn) rs764990251 0.00001
NM_002857.4(PEX19):c.895_896del (p.Met299fs) rs1175608825 0.00001
NM_002857.4(PEX19):c.*1462C>G rs1233628177
NM_002857.4(PEX19):c.*172G>C rs886045449
NM_002857.4(PEX19):c.*1790A>G rs886045440
NM_002857.4(PEX19):c.*2417CT[2] rs143491060
NM_002857.4(PEX19):c.*361G>A rs886045448
NM_002857.4(PEX19):c.*582G>A rs1657648265
NM_002857.4(PEX19):c.*934A>G rs886045444
NM_002857.4(PEX19):c.*998G>A rs886045443
NM_002857.4(PEX19):c.115C>G (p.Pro39Ala) rs144256391
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser) rs144256391
NM_002857.4(PEX19):c.118T>G (p.Ser40Ala)
NM_002857.4(PEX19):c.11C>A (p.Ala4Asp) rs766641297
NM_002857.4(PEX19):c.122_123insAGA (p.Thr41_Thr42insAsp) rs2101805810
NM_002857.4(PEX19):c.128C>T (p.Thr43Met)
NM_002857.4(PEX19):c.13G>A (p.Glu5Lys)
NM_002857.4(PEX19):c.149C>A (p.Pro50His) rs11550117
NM_002857.4(PEX19):c.149C>T (p.Pro50Leu) rs11550117
NM_002857.4(PEX19):c.152A>G (p.Gln51Arg) rs2101805717
NM_002857.4(PEX19):c.152AGA[1] (p.Lys52del) rs2101805702
NM_002857.4(PEX19):c.166G>A (p.Gly56Arg) rs1657873152
NM_002857.4(PEX19):c.172A>G (p.Thr58Ala)
NM_002857.4(PEX19):c.181-4G>T rs747572423
NM_002857.4(PEX19):c.187C>G (p.Leu63Val) rs1166824486
NM_002857.4(PEX19):c.18A>T (p.Glu6Asp)
NM_002857.4(PEX19):c.190T>A (p.Phe64Ile) rs1657846391
NM_002857.4(PEX19):c.199C>G (p.Gln67Glu)
NM_002857.4(PEX19):c.19G>A (p.Gly7Ser) rs963164666
NM_002857.4(PEX19):c.211T>C (p.Phe71Leu)
NM_002857.4(PEX19):c.212T>A (p.Phe71Tyr)
NM_002857.4(PEX19):c.212T>G (p.Phe71Cys)
NM_002857.4(PEX19):c.225C>G (p.Phe75Leu)
NM_002857.4(PEX19):c.239C>T (p.Ala80Val)
NM_002857.4(PEX19):c.23G>A (p.Cys8Tyr) rs369984634
NM_002857.4(PEX19):c.23G>T (p.Cys8Phe) rs369984634
NM_002857.4(PEX19):c.242C>T (p.Ser81Phe) rs766263544
NM_002857.4(PEX19):c.248C>G (p.Ala83Gly) rs1657842985
NM_002857.4(PEX19):c.254C>A (p.Ala85Glu) rs11550119
NM_002857.4(PEX19):c.25A>G (p.Ser9Gly) rs775660692
NM_002857.4(PEX19):c.262G>C (p.Glu88Gln) rs372422266
NM_002857.4(PEX19):c.284C>A (p.Ala95Asp)
NM_002857.4(PEX19):c.302T>G (p.Leu101Arg)
NM_002857.4(PEX19):c.305T>C (p.Val102Ala)
NM_002857.4(PEX19):c.338G>T (p.Gly113Val) rs2101804477
NM_002857.4(PEX19):c.347G>A (p.Gly116Asp) rs1657814596
NM_002857.4(PEX19):c.351T>G (p.Ser117Arg) rs376684423
NM_002857.4(PEX19):c.362C>T (p.Ser121Phe) rs1557854775
NM_002857.4(PEX19):c.383G>A (p.Cys128Tyr) rs2101803261
NM_002857.4(PEX19):c.384C>G (p.Cys128Trp)
NM_002857.4(PEX19):c.395C>G (p.Thr132Arg)
NM_002857.4(PEX19):c.395C>T (p.Thr132Ile) rs770134866
NM_002857.4(PEX19):c.397C>G (p.Leu133Val)
NM_002857.4(PEX19):c.413A>G (p.Lys138Arg) rs745314708
NM_002857.4(PEX19):c.419C>T (p.Ala140Val)
NM_002857.4(PEX19):c.41C>T (p.Ala14Val) rs1657957953
NM_002857.4(PEX19):c.432+3G>A
NM_002857.4(PEX19):c.441C>T (p.Ser147=) rs745392627
NM_002857.4(PEX19):c.446C>T (p.Ser149Leu)
NM_002857.4(PEX19):c.45C>G (p.Asp15Glu) rs2101810529
NM_002857.4(PEX19):c.46A>T (p.Arg16Trp)
NM_002857.4(PEX19):c.474G>C (p.Glu158Asp)
NM_002857.4(PEX19):c.475G>A (p.Gly159Arg)
NM_002857.4(PEX19):c.481G>C (p.Gly161Arg) rs2101802695
NM_002857.4(PEX19):c.484A>G (p.Met162Val)
NM_002857.4(PEX19):c.485T>C (p.Met162Thr)
NM_002857.4(PEX19):c.499G>A (p.Gly167Arg)
NM_002857.4(PEX19):c.506G>A (p.Gly169Glu) rs748793476
NM_002857.4(PEX19):c.51A>C (p.Glu17Asp) rs1657957259
NM_002857.4(PEX19):c.523A>G (p.Met175Val) rs886044114
NM_002857.4(PEX19):c.524T>C (p.Met175Thr)
NM_002857.4(PEX19):c.527A>C (p.Gln176Pro) rs1231019046
NM_002857.4(PEX19):c.530G>A (p.Ser177Asn)
NM_002857.4(PEX19):c.532A>G (p.Ile178Val) rs2101802538
NM_002857.4(PEX19):c.547C>T (p.Leu183Phe) rs1351664822
NM_002857.4(PEX19):c.563T>C (p.Leu188Pro)
NM_002857.4(PEX19):c.574C>G (p.Leu192Val)
NM_002857.4(PEX19):c.575T>C (p.Leu192Pro)
NM_002857.4(PEX19):c.5C>T (p.Ala2Val) rs1307265959
NM_002857.4(PEX19):c.615T>A (p.Ser205Arg) rs2101800172
NM_002857.4(PEX19):c.617A>G (p.His206Arg) rs761372588
NM_002857.4(PEX19):c.617A>T (p.His206Leu) rs761372588
NM_002857.4(PEX19):c.619C>G (p.Arg207Gly) rs367813991
NM_002857.4(PEX19):c.630A>C (p.Leu210=) rs202174805
NM_002857.4(PEX19):c.634C>A (p.Pro212Thr)
NM_002857.4(PEX19):c.644T>C (p.Phe215Ser) rs2101800093
NM_002857.4(PEX19):c.661C>G (p.Gln221Glu)
NM_002857.4(PEX19):c.679A>G (p.Lys227Glu)
NM_002857.4(PEX19):c.68A>C (p.Glu23Ala)
NM_002857.4(PEX19):c.692A>G (p.Gln231Arg)
NM_002857.4(PEX19):c.694T>G (p.Phe232Val) rs2101799984
NM_002857.4(PEX19):c.699G>T (p.Glu233Asp)
NM_002857.4(PEX19):c.69A>T (p.Glu23Asp)
NM_002857.4(PEX19):c.70+5G>C rs1158588649
NM_002857.4(PEX19):c.703_704delinsAT (p.Glu235Met) rs1557853548
NM_002857.4(PEX19):c.706A>G (p.Thr236Ala) rs1040267504
NM_002857.4(PEX19):c.713C>A (p.Thr238Lys)
NM_002857.4(PEX19):c.740G>A (p.Arg247His)
NM_002857.4(PEX19):c.744T>A (p.Phe248Leu)
NM_002857.4(PEX19):c.744T>G (p.Phe248Leu) rs1473774134
NM_002857.4(PEX19):c.751G>A (p.Val251Met)
NM_002857.4(PEX19):c.754C>A (p.Leu252Met)
NM_002857.4(PEX19):c.759T>A (p.Asp253Glu)
NM_002857.4(PEX19):c.771+5G>A rs2101799795
NM_002857.4(PEX19):c.779A>G (p.Asp260Gly)
NM_002857.4(PEX19):c.784G>A (p.Gly262Ser)
NM_002857.4(PEX19):c.788A>G (p.His263Arg) rs762620480
NM_002857.4(PEX19):c.808G>A (p.Gly270Arg) rs1657696746
NM_002857.4(PEX19):c.817-9C>A rs2101799148
NM_002857.4(PEX19):c.817C>A (p.Pro273Thr) rs760797797
NM_002857.4(PEX19):c.842A>G (p.Asp281Gly) rs2101799102
NM_002857.4(PEX19):c.854T>C (p.Leu285Pro)
NM_002857.4(PEX19):c.857C>T (p.Ser286Leu) rs149976198
NM_002857.4(PEX19):c.859G>T (p.Gly287Cys)
NM_002857.4(PEX19):c.869G>C (p.Gly290Ala)
NM_002857.4(PEX19):c.878G>A (p.Gly293Asp)
NM_002857.4(PEX19):c.883C>A (p.Gln295Lys)
NM_002857.4(PEX19):c.886T>C (p.Cys296Arg) rs1557853173
NM_002857.4(PEX19):c.887G>A (p.Cys296Tyr) rs1326449698
NM_002857.4(PEX19):c.896T>C (p.Met299Thr) rs2101798984
NM_002857.4(PEX19):c.94G>C (p.Ala32Pro)
NM_002857.4(PEX19):c.94G>T (p.Ala32Ser)
NM_002857.4(PEX19):c.98A>G (p.Lys33Arg)

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.