ClinVar Miner

List of variants in gene PEX19 studied for Zellweger spectrum disorders

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 382
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HGVS dbSNP gnomAD frequency
NM_002857.4(PEX19):c.594+37T>C rs2795067 0.64655
NM_002857.4(PEX19):c.*2156C>G rs10594 0.44938
NM_002857.3(PEX19):c.-41C>T rs113442137 0.04456
NM_002857.4(PEX19):c.*2353G>T rs9853 0.04407
NM_002857.4(PEX19):c.*487T>A rs16831724 0.03465
NM_002857.4(PEX19):c.*1084T>C rs77962224 0.03113
NM_002857.4(PEX19):c.*2417C>T rs193290301 0.02557
NM_002857.4(PEX19):c.433-11G>T rs41265791 0.02551
NM_002857.4(PEX19):c.*2637G>A rs41265787 0.02253
NM_002857.4(PEX19):c.*898A>G rs8989 0.02188
NM_002857.4(PEX19):c.*328A>G rs115260345 0.01698
NM_002857.4(PEX19):c.*2057T>G rs56089807 0.01433
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_002857.3(PEX19):c.-14T>G rs2301297 0.00535
NM_002857.4(PEX19):c.771+3A>G rs141133579 0.00429
NM_002857.4(PEX19):c.261C>T (p.Phe87=) rs146644725 0.00206
NM_002857.4(PEX19):c.*1471A>T rs2301299 0.00133
NM_002857.4(PEX19):c.346+14A>G rs77156017 0.00133
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.*1802G>C rs745362133 0.00079
NM_002857.4(PEX19):c.564G>A (p.Leu188=) rs149058086 0.00078
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.87C>T (p.Phe29=) rs141911166 0.00048
NM_002857.4(PEX19):c.*1335G>T rs748536788 0.00044
NM_002857.4(PEX19):c.255G>A (p.Ala85=) rs150928521 0.00043
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.347-13T>A rs371091340 0.00034
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.457C>T (p.Leu153=) rs752489082 0.00022
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.504A>G (p.Glu168=) rs200311685 0.00018
NM_002857.4(PEX19):c.*169C>T rs192931972 0.00016
NM_002857.4(PEX19):c.21C>G (p.Gly7=) rs140039683 0.00016
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.195T>C (p.Ala65=) rs777582215 0.00011
NM_002857.4(PEX19):c.690G>A (p.Glu230=) rs146626996 0.00011
NM_002857.4(PEX19):c.262G>A (p.Glu88Lys) rs372422266 0.00010
NM_002857.4(PEX19):c.546A>G (p.Leu182=) rs138837673 0.00010
NM_002857.4(PEX19):c.857C>G (p.Ser286Trp) rs149976198 0.00010
NM_002857.4(PEX19):c.816+14A>T rs558387492 0.00009
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.771+18C>T rs1336101202 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.348C>T (p.Gly116=) rs144361779 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.159A>G (p.Arg53=) rs1218867675 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.595-19C>T rs764622800 0.00004
NM_002857.4(PEX19):c.619C>T (p.Arg207Trp) rs367813991 0.00004
NM_002857.4(PEX19):c.70+8C>T rs371723760 0.00004
NM_002857.4(PEX19):c.786C>T (p.Gly262=) rs146846475 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.225C>T (p.Phe75=) rs751536744 0.00003
NM_002857.4(PEX19):c.432+12G>A rs1265994490 0.00003
NM_002857.4(PEX19):c.490G>A (p.Glu164Lys) rs370126224 0.00003
NM_002857.4(PEX19):c.595-17A>G rs753045868 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.772-8T>C rs367964884 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.181-4G>A rs747572423 0.00002
NM_002857.4(PEX19):c.192C>T (p.Phe64=) rs750771594 0.00002
NM_002857.4(PEX19):c.219A>G (p.Glu73=) rs767113471 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.447G>A (p.Ser149=) rs749234062 0.00002
NM_002857.4(PEX19):c.553A>G (p.Lys185Glu) rs765741144 0.00002
NM_002857.4(PEX19):c.669C>T (p.Ser223=) rs375907790 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.772-7T>C rs777254776 0.00002
NM_002857.4(PEX19):c.783A>G (p.Leu261=) rs754972525 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.129G>A (p.Thr43=) rs921113258 0.00001
NM_002857.4(PEX19):c.12T>C (p.Ala4=) rs1657962000 0.00001
NM_002857.4(PEX19):c.148C>A (p.Pro50Thr) rs1280706455 0.00001
NM_002857.4(PEX19):c.180+13C>A rs1420876010 0.00001
NM_002857.4(PEX19):c.181G>A (p.Asp61Asn) rs1364910260 0.00001
NM_002857.4(PEX19):c.198C>T (p.Ser66=) rs1332354119 0.00001
NM_002857.4(PEX19):c.200A>C (p.Gln67Pro) rs755726384 0.00001
NM_002857.4(PEX19):c.249C>T (p.Ala83=) rs1359237654 0.00001
NM_002857.4(PEX19):c.31G>C (p.Gly11Arg) rs772905234 0.00001
NM_002857.4(PEX19):c.346+1G>A rs75072667 0.00001
NM_002857.4(PEX19):c.365A>G (p.Gln122Arg) rs1405573106 0.00001
NM_002857.4(PEX19):c.366A>G (p.Gln122=) rs930041404 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.397C>T (p.Leu133=) rs146321212 0.00001
NM_002857.4(PEX19):c.398dup (p.Ser134fs) rs1240816309 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.433-6A>G rs775148442 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.489C>T (p.Asp163=) rs765686168 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.552C>T (p.Ser184=) rs1399277810 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.595-12C>T rs907000189 0.00001
NM_002857.4(PEX19):c.595-18C>G rs371272792 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.735G>A (p.Lys245=) rs749331745 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.816+7A>G rs776784191 0.00001
NM_002857.4(PEX19):c.858G>A (p.Ser286=) rs754510943 0.00001
NM_002857.4(PEX19):c.867A>G (p.Pro289=) rs1657686642 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.105C>T (p.Ser35=)
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.132C>T (p.Ala44=) rs1657875449
NM_002857.4(PEX19):c.13G>A (p.Glu5Lys)
NM_002857.4(PEX19):c.144G>A (p.Ser48=) rs1272211650
NM_002857.4(PEX19):c.144G>C (p.Ser48=)
NM_002857.4(PEX19):c.147G>T (p.Gly49=)
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.150C>T (p.Pro50=)
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.161C>T (p.Ser54Leu) rs1657873534
NM_002857.4(PEX19):c.162G>A (p.Ser54=) rs540593146
NM_002857.4(PEX19):c.162G>T (p.Ser54=) rs540593146
NM_002857.4(PEX19):c.166G>A (p.Gly56Arg) rs1657873152
NM_002857.4(PEX19):c.172A>G (p.Thr58Ala)
NM_002857.4(PEX19):c.174T>G (p.Thr58=) rs1657872690
NM_002857.4(PEX19):c.180+13C>T
NM_002857.4(PEX19):c.180+15C>T
NM_002857.4(PEX19):c.180+16C>G
NM_002857.4(PEX19):c.180+1G>T rs1320716582
NM_002857.4(PEX19):c.181-12C>T
NM_002857.4(PEX19):c.181-15A>G rs114403769
NM_002857.4(PEX19):c.181-15A>T rs114403769
NM_002857.4(PEX19):c.181-16C>T rs1657850255
NM_002857.4(PEX19):c.181-2A>G rs2101804905
NM_002857.4(PEX19):c.181-4G>T rs747572423
NM_002857.4(PEX19):c.181-6C>G
NM_002857.4(PEX19):c.181-6C>T rs570376017
NM_002857.4(PEX19):c.181-9C>T
NM_002857.4(PEX19):c.186C>A (p.Ala62=)
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.21C>T (p.Gly7=) rs140039683
NM_002857.4(PEX19):c.225C>G (p.Phe75Leu)
NM_002857.4(PEX19):c.234A>G (p.Glu78=) rs2101804754
NM_002857.4(PEX19):c.235C>T (p.Leu79=)
NM_002857.4(PEX19):c.237G>T (p.Leu79=)
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.27T>C (p.Ser9=)
NM_002857.4(PEX19):c.280T>C (p.Leu94=)
NM_002857.4(PEX19):c.281T>A (p.Leu94Ter)
NM_002857.4(PEX19):c.284C>A (p.Ala95Asp)
NM_002857.4(PEX19):c.294del (p.Glu98fs) rs2101804576
NM_002857.4(PEX19):c.302T>G (p.Leu101Arg)
NM_002857.4(PEX19):c.305T>C (p.Val102Ala)
NM_002857.4(PEX19):c.306G>A (p.Val102=) rs2101804535
NM_002857.4(PEX19):c.30C>A (p.Val10=)
NM_002857.4(PEX19):c.30C>G (p.Val10=) rs144440223
NM_002857.4(PEX19):c.30C>T (p.Val10=) rs144440223
NM_002857.4(PEX19):c.320del (p.Lys107fs) rs1571138735
NM_002857.4(PEX19):c.338G>T (p.Gly113Val) rs2101804477
NM_002857.4(PEX19):c.346+15G>A rs369060714
NM_002857.4(PEX19):c.346+2T>C rs1657837348
NM_002857.4(PEX19):c.346+7A>G rs1657837179
NM_002857.4(PEX19):c.346+9A>G
NM_002857.4(PEX19):c.347-19C>T rs2101803474
NM_002857.4(PEX19):c.347-20G>A rs1557854826
NM_002857.4(PEX19):c.347-5C>T
NM_002857.4(PEX19):c.347-8T>C rs2101803453
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.354T>C (p.Asp118=)
NM_002857.4(PEX19):c.360C>T (p.Thr120=)
NM_002857.4(PEX19):c.362C>T (p.Ser121Phe) rs1557854775
NM_002857.4(PEX19):c.369A>G (p.Gln123=) rs749676675
NM_002857.4(PEX19):c.381T>G (p.Ser127=)
NM_002857.4(PEX19):c.383G>A (p.Cys128Tyr) rs2101803261
NM_002857.4(PEX19):c.384C>G (p.Cys128Trp)
NM_002857.4(PEX19):c.387A>G (p.Leu129=)
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.42G>C (p.Ala14=) rs1357331804
NM_002857.4(PEX19):c.432+15G>C rs1243733740
NM_002857.4(PEX19):c.432+3G>A
NM_002857.4(PEX19):c.433-10T>C rs2101802831
NM_002857.4(PEX19):c.433-11G>C rs41265791
NM_002857.4(PEX19):c.433-15_433-12del
NM_002857.4(PEX19):c.433-9C>T
NM_002857.4(PEX19):c.438C>T (p.Ser146=)
NM_002857.4(PEX19):c.441C>T (p.Ser147=) rs745392627
NM_002857.4(PEX19):c.446C>T (p.Ser149Leu)
NM_002857.4(PEX19):c.447G>C (p.Ser149=)
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.477G>A (p.Gly159=)
NM_002857.4(PEX19):c.481G>C (p.Gly161Arg) rs2101802695
NM_002857.4(PEX19):c.483C>T (p.Gly161=)
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.513C>T (p.Ile171=)
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.526C>T (p.Gln176Ter)
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.543C>T (p.Asn181=)
NM_002857.4(PEX19):c.547C>T (p.Leu183Phe) rs1351664822
NM_002857.4(PEX19):c.563T>C (p.Leu188Pro)
NM_002857.4(PEX19):c.567C>T (p.Tyr189=) rs2101802465
NM_002857.4(PEX19):c.573A>C (p.Ser191=)
NM_002857.4(PEX19):c.574C>G (p.Leu192Val)
NM_002857.4(PEX19):c.575T>C (p.Leu192Pro)
NM_002857.4(PEX19):c.577A>T (p.Lys193Ter)
NM_002857.4(PEX19):c.582G>A (p.Glu194=) rs1571137550
NM_002857.4(PEX19):c.594+11T>G rs1657789996
NM_002857.4(PEX19):c.594+15A>G
NM_002857.4(PEX19):c.594+1G>C
NM_002857.4(PEX19):c.594+9A>G rs1571137524
NM_002857.4(PEX19):c.595-14CT[2] rs753492350
NM_002857.4(PEX19):c.595-20C>T
NM_002857.4(PEX19):c.5C>T (p.Ala2Val) rs1307265959
NM_002857.4(PEX19):c.600A>G (p.Pro200=)
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.621G>A (p.Arg207=) rs1657714023
NM_002857.4(PEX19):c.627T>C (p.Ser209=)
NM_002857.4(PEX19):c.630A>C (p.Leu210=) rs202174805
NM_002857.4(PEX19):c.630A>G (p.Leu210=) rs202174805
NM_002857.4(PEX19):c.633T>C (p.Pro211=)
NM_002857.4(PEX19):c.634C>A (p.Pro212Thr)
NM_002857.4(PEX19):c.644T>C (p.Phe215Ser) rs2101800093
NM_002857.4(PEX19):c.654T>C (p.Tyr218=)
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>G (p.Glu23=) rs1657956169
NM_002857.4(PEX19):c.69A>T (p.Glu23Asp)
NM_002857.4(PEX19):c.6C>T (p.Ala2=)
NM_002857.4(PEX19):c.70+18del rs1254590800
NM_002857.4(PEX19):c.70+2T>G
NM_002857.4(PEX19):c.70+5G>C rs1158588649
NM_002857.4(PEX19):c.70+7G>T rs758203051
NM_002857.4(PEX19):c.70+9C>A rs367604409
NM_002857.4(PEX19):c.70+9C>G rs367604409
NM_002857.4(PEX19):c.70+9C>T rs367604409
NM_002857.4(PEX19):c.70+9_70+10insCGCT rs777854895
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.708C>T (p.Thr236=)
NM_002857.4(PEX19):c.71-15C>T
NM_002857.4(PEX19):c.71-15CT[3] rs756418503
NM_002857.4(PEX19):c.71-16T>C rs2101805960
NM_002857.4(PEX19):c.713C>A (p.Thr238Lys)
NM_002857.4(PEX19):c.726C>T (p.Thr242=) rs564013133
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+12T>A rs753423401
NM_002857.4(PEX19):c.771+5G>A rs2101799795
NM_002857.4(PEX19):c.772-12C>T
NM_002857.4(PEX19):c.772-4C>T
NM_002857.4(PEX19):c.772-9del rs2101799481
NM_002857.4(PEX19):c.774A>G (p.Leu258=) rs1657698317
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.816+13T>A rs1432895271
NM_002857.4(PEX19):c.816+15T>C rs1318227463
NM_002857.4(PEX19):c.816+20C>T
NM_002857.4(PEX19):c.817-13A>T rs1657690599
NM_002857.4(PEX19):c.817-18C>T
NM_002857.4(PEX19):c.817-19C>T rs1284493350
NM_002857.4(PEX19):c.817-6C>T
NM_002857.4(PEX19):c.817-9C>A rs2101799148
NM_002857.4(PEX19):c.817C>A (p.Pro273Thr) rs760797797
NM_002857.4(PEX19):c.825C>T (p.Gly275=)
NM_002857.4(PEX19):c.842A>G (p.Asp281Gly) rs2101799102
NM_002857.4(PEX19):c.843T>C (p.Asp281=)
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.86del (p.Phe29fs)
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)
NM_002857.4(PEX19):c.9del (p.Ala4fs)

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