ClinVar Miner

List of variants studied for Zellweger spectrum disorders by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 460
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HGVS dbSNP gnomAD frequency
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg) rs10087163 0.98578
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_000466.3(PEX1):c.358-15G>A rs38809 0.86650
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40130
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40058
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_000466.3(PEX1):c.-137T>C rs12386601 0.12381
NM_002617.4(PEX10):c.913-4G>A rs11586985 0.08566
NM_000466.3(PEX1):c.-53C>G rs12386703 0.07798
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07211
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_002617.4(PEX10):c.279C>T (p.Gly93=) rs1143016 0.05120
NM_000466.3(PEX1):c.358-11G>C rs113104510 0.04075
NM_000318.3(PEX2):c.24G>A (p.Ala8=) rs9298285 0.03406
NM_000466.3(PEX1):c.473-18G>A rs2066743 0.03344
NM_000466.3(PEX1):c.2584-20T>A rs111535201 0.02687
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739 0.02536
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994 0.02536
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736 0.02141
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516 0.02095
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_000466.3(PEX1):c.1671-7T>C rs74519968 0.01312
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915 0.01159
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109 0.00874
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518 0.00792
NM_002617.4(PEX10):c.843G>A (p.Arg281=) rs35082957 0.00792
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949 0.00686
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00651
NM_002617.4(PEX10):c.318G>A (p.Leu106=) rs146452560 0.00649
NM_002617.4(PEX10):c.685G>C (p.Val229Leu) rs139345520 0.00629
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839 0.00619
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053 0.00582
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00573
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00544
NM_002617.4(PEX10):c.332T>C (p.Leu111Pro) rs35426403 0.00530
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00513
NM_002617.4(PEX10):c.621C>G (p.Pro207=) rs140107510 0.00350
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522 0.00261
NM_000466.3(PEX1):c.934A>G (p.Ile312Val) rs146312634 0.00223
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00220
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881 0.00188
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00182
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00171
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00157
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583 0.00155
NM_000466.3(PEX1):c.130-9T>C rs377337949 0.00145
NM_000466.3(PEX1):c.1797A>G (p.Gly599=) rs76986636 0.00140
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=) rs143220470 0.00124
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu) rs61732159 0.00093
NM_002617.4(PEX10):c.601-27A>G rs144264865 0.00091
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser) rs147870525 0.00089
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_000466.3(PEX1):c.645C>G (p.Thr215=) rs151041559 0.00064
NM_002617.4(PEX10):c.896C>T (p.Ala299Val) rs78620392 0.00058
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu) rs138758170 0.00055
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg) rs76530653 0.00045
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser) rs140963177 0.00041
NM_000318.3(PEX2):c.322G>C (p.Val108Leu) rs148101729 0.00041
NM_000466.3(PEX1):c.2718+3A>G rs370536529 0.00040
NM_002617.4(PEX10):c.816G>T (p.Leu272=) rs144440263 0.00040
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val) rs146416679 0.00039
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu) rs200026148 0.00037
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00036
NM_002617.4(PEX10):c.765G>A (p.Leu255=) rs140133667 0.00035
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157 0.00034
NM_002617.4(PEX10):c.812C>T (p.Pro271Leu) rs142088776 0.00034
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855 0.00033
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430 0.00032
NM_000318.3(PEX2):c.304C>A (p.Gln102Lys) rs200065382 0.00030
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104 0.00029
NM_000466.3(PEX1):c.1360-7C>T rs371890000 0.00029
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696 0.00029
NM_002617.4(PEX10):c.316C>T (p.Leu106=) rs140340426 0.00029
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser) rs138621982 0.00027
NM_000318.3(PEX2):c.447T>G (p.Gly149=) rs375401977 0.00027
NM_002617.4(PEX10):c.611G>A (p.Arg204His) rs199934621 0.00027
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_002617.4(PEX10):c.622G>A (p.Gly208Arg) rs138489241 0.00025
NM_000466.3(PEX1):c.2868T>A (p.Val956=) rs200663477 0.00024
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031 0.00023
NM_000318.3(PEX2):c.698G>A (p.Ser233Asn) rs200868032 0.00022
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796 0.00022
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) rs201719745 0.00022
NM_000287.4(PEX6):c.1884+3G>A rs377041406 0.00021
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631 0.00021
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942 0.00021
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser) rs200857848 0.00019
NM_000287.4(PEX6):c.617G>A (p.Gly206Glu) rs139093654 0.00018
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly) rs539784253 0.00018
NM_002617.4(PEX10):c.27G>A (p.Pro9=) rs559431523 0.00018
NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala) rs146025917 0.00016
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr) rs143283146 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00015
NM_000287.4(PEX6):c.543G>A (p.Val181=) rs368560418 0.00015
NM_000287.4(PEX6):c.970G>A (p.Glu324Lys) rs201678533 0.00015
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) rs141510219 0.00015
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433 0.00014
NM_000466.3(PEX1):c.159C>T (p.His53=) rs200950057 0.00014
NM_002617.4(PEX10):c.275G>A (p.Arg92His) rs375649043 0.00014
NM_002617.4(PEX10):c.967C>T (p.Arg323Trp) rs148903253 0.00014
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr) rs61753226 0.00013
NM_002617.4(PEX10):c.425G>A (p.Arg142Gln) rs138843050 0.00013
NM_000466.3(PEX1):c.3198T>C (p.Ser1066=) rs150190899 0.00012
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp) rs368752843 0.00011
NM_000287.4(PEX6):c.740C>G (p.Pro247Arg) rs199697021 0.00011
NM_000466.3(PEX1):c.1587+5T>C rs199526105 0.00011
NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp) rs199989676 0.00011
NM_000466.3(PEX1):c.1815A>G (p.Lys605=) rs112688556 0.00011
NM_000466.3(PEX1):c.891A>G (p.Ile297Met) rs143206380 0.00011
NM_002617.4(PEX10):c.268C>T (p.Leu90=) rs775772867 0.00011
NM_002617.4(PEX10):c.915G>A (p.Ala305=) rs374891812 0.00011
NM_000287.4(PEX6):c.2783G>A (p.Arg928His) rs201265954 0.00010
NM_000318.3(PEX2):c.152G>A (p.Arg51His) rs549242503 0.00010
NM_000287.4(PEX6):c.1082C>T (p.Thr361Ile) rs145335409 0.00009
NM_000287.4(PEX6):c.1607G>A (p.Arg536Gln) rs138431842 0.00009
NM_000318.3(PEX2):c.288G>A (p.Gln96=) rs370236723 0.00009
NM_000466.3(PEX1):c.2954G>A (p.Arg985His) rs202057449 0.00009
NM_000466.3(PEX1):c.3650T>G (p.Met1217Arg) rs200306465 0.00009
NM_002617.4(PEX10):c.220G>A (p.Val74Ile) rs768438726 0.00009
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala) rs182308788 0.00008
NM_000466.3(PEX1):c.3130G>A (p.Gly1044Arg) rs371136331 0.00008
NM_000466.3(PEX1):c.3398C>T (p.Ser1133Phe) rs185115432 0.00008
NM_002617.4(PEX10):c.427C>T (p.Arg143Cys) rs199667764 0.00008
NM_002617.4(PEX10):c.704dup (p.Leu236fs) rs61750435 0.00008
NM_000287.4(PEX6):c.1680C>T (p.Pro560=) rs372998833 0.00007
NM_000287.4(PEX6):c.1821C>T (p.Ala607=) rs201730259 0.00007
NM_000287.4(PEX6):c.2104G>A (p.Val702Met) rs377421228 0.00007
NM_000287.4(PEX6):c.390C>T (p.Thr130=) rs753963225 0.00007
NM_000318.3(PEX2):c.769A>G (p.Ile257Val) rs199874465 0.00007
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val) rs561561515 0.00007
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg) rs545731416 0.00007
NM_000466.3(PEX1):c.3762T>C (p.Ala1254=) rs375213175 0.00007
NM_002617.4(PEX10):c.725G>A (p.Arg242Gln) rs142257121 0.00007
NM_002617.4(PEX10):c.779C>A (p.Ala260Asp) rs747171383 0.00007
NM_002617.4(PEX10):c.839G>A (p.Arg280His) rs758678654 0.00007
NM_000287.4(PEX6):c.1550G>A (p.Arg517Gln) rs371782808 0.00006
NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys) rs750452619 0.00006
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123 0.00006
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys) rs544763390 0.00006
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385 0.00006
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) rs372485912 0.00006
NM_002617.4(PEX10):c.267G>A (p.Ser89=) rs746952615 0.00006
NM_002617.4(PEX10):c.555C>T (p.His185=) rs75377471 0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 0.00006
NM_000287.4(PEX6):c.1613G>A (p.Arg538His) rs559048081 0.00005
NM_000287.4(PEX6):c.2662C>T (p.Arg888Cys) rs148251960 0.00005
NM_000287.4(PEX6):c.2924G>T (p.Arg975Leu) rs757254854 0.00005
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467 0.00005
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667 0.00005
NM_000466.3(PEX1):c.2953C>T (p.Arg985Cys) rs371988432 0.00005
NM_000466.3(PEX1):c.305C>A (p.Ser102Tyr) rs143369243 0.00005
NM_000466.3(PEX1):c.3623G>A (p.Arg1208Gln) rs767337582 0.00005
NM_002617.4(PEX10):c.144G>A (p.Glu48=) rs141263967 0.00005
NM_002617.4(PEX10):c.547T>G (p.Tyr183Asp) rs780485807 0.00005
NM_002617.4(PEX10):c.605G>A (p.Arg202His) rs371979619 0.00005
NM_002617.4(PEX10):c.640C>T (p.Arg214Cys) rs536486149 0.00005
NM_002617.4(PEX10):c.771C>T (p.His257=) rs776503441 0.00005
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln) rs769388552 0.00004
NM_000287.4(PEX6):c.2357G>A (p.Arg786Gln) rs758572546 0.00004
NM_000287.4(PEX6):c.657G>A (p.Gln219=) rs375588028 0.00004
NM_000318.3(PEX2):c.404T>C (p.Val135Ala) rs549932565 0.00004
NM_000318.3(PEX2):c.705T>A (p.Asn235Lys) rs747222660 0.00004
NM_000318.3(PEX2):c.826G>C (p.Val276Leu) rs746008519 0.00004
NM_000466.3(PEX1):c.2059C>T (p.Arg687Trp) rs138008298 0.00004
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn) rs374010060 0.00004
NM_000466.3(PEX1):c.889A>G (p.Ile297Val) rs181796768 0.00004
NM_002617.4(PEX10):c.776+5G>A rs747776170 0.00004
NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr) rs564483086 0.00003
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn) rs535326039 0.00003
NM_000287.4(PEX6):c.122G>A (p.Arg41Lys) rs372033738 0.00003
NM_000287.4(PEX6):c.1255G>C (p.Val419Leu) rs773054165 0.00003
NM_000287.4(PEX6):c.1405C>T (p.Arg469Trp) rs757334412 0.00003
NM_000287.4(PEX6):c.1495C>T (p.Leu499Phe) rs769207892 0.00003
NM_000287.4(PEX6):c.152C>A (p.Ala51Glu) rs931068715 0.00003
NM_000287.4(PEX6):c.1549C>T (p.Arg517Trp) rs754790139 0.00003
NM_000287.4(PEX6):c.2108C>T (p.Ser703Phe) rs1390565278 0.00003
NM_000287.4(PEX6):c.2254C>G (p.Leu752Val) rs374975985 0.00003
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000287.4(PEX6):c.2736G>A (p.Ala912=) rs202049230 0.00003
NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr) rs774145857 0.00003
NM_000287.4(PEX6):c.411G>A (p.Arg137=) rs769196737 0.00003
NM_000287.4(PEX6):c.412G>A (p.Val138Met) rs763313055 0.00003
NM_000287.4(PEX6):c.781C>T (p.Pro261Ser) rs758866060 0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg) rs138590115 0.00003
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala) rs750212948 0.00003
NM_000318.3(PEX2):c.374G>A (p.Arg125Gln) rs199845625 0.00003
NM_000318.3(PEX2):c.551G>A (p.Cys184Tyr) rs1266603500 0.00003
NM_000466.3(PEX1):c.1281T>C (p.His427=) rs979077056 0.00003
NM_000466.3(PEX1):c.1690G>A (p.Val564Ile) rs183965018 0.00003
NM_000466.3(PEX1):c.1772G>A (p.Arg591Lys) rs754337792 0.00003
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala) rs775544654 0.00003
NM_000466.3(PEX1):c.2240A>C (p.Glu747Ala) rs200207576 0.00003
NM_000466.3(PEX1):c.544C>T (p.Arg182Cys) rs771535312 0.00003
NM_000466.3(PEX1):c.897C>T (p.Asn299=) rs559305030 0.00003
NM_002617.4(PEX10):c.111G>T (p.Ala37=) rs1227962505 0.00003
NM_002617.4(PEX10):c.247C>T (p.Arg83Trp) rs377135853 0.00003
NM_002617.4(PEX10):c.271C>T (p.Arg91Cys) rs747921371 0.00003
NM_002617.4(PEX10):c.280G>A (p.Val94Met) rs142626035 0.00003
NM_002617.4(PEX10):c.435G>A (p.Met145Ile) rs368273118 0.00003
NM_002617.4(PEX10):c.533A>G (p.His178Arg) rs1643081768 0.00003
NM_002617.4(PEX10):c.652_657dup (p.Arg218_Leu219dup) rs1432526114 0.00003
NM_002617.4(PEX10):c.724C>T (p.Arg242Trp) rs745818681 0.00003
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter) rs61752092 0.00003
NM_002617.4(PEX10):c.864C>T (p.Cys288=) rs762621687 0.00003
NM_000287.4(PEX6):c.106C>T (p.Leu36=) rs758416830 0.00002
NM_000287.4(PEX6):c.1556G>A (p.Arg519His) rs368356719 0.00002
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp) rs267608230 0.00002
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241 0.00002
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln) rs61753231 0.00002
NM_000287.4(PEX6):c.743G>T (p.Arg248Leu) rs368481812 0.00002
NM_000287.4(PEX6):c.832G>A (p.Ala278Thr) rs370456987 0.00002
NM_000287.4(PEX6):c.904G>A (p.Ala302Thr) rs368503571 0.00002
NM_000318.3(PEX2):c.795T>C (p.Tyr265=) rs764785488 0.00002
NM_000466.3(PEX1):c.1239+1G>T rs756876301 0.00002
NM_000466.3(PEX1):c.1240A>G (p.Ile414Val) rs759491353 0.00002
NM_000466.3(PEX1):c.130-1G>T rs1028247729 0.00002
NM_000466.3(PEX1):c.134A>G (p.Gln45Arg) rs758309091 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000466.3(PEX1):c.2456G>A (p.Arg819His) rs376273608 0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928 0.00002
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=) rs1009877821 0.00002
NM_000466.3(PEX1):c.3381G>A (p.Arg1127=) rs148972713 0.00002
NM_000466.3(PEX1):c.3428C>G (p.Ser1143Cys) rs1198978658 0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142 0.00002
NM_000466.3(PEX1):c.966T>C (p.Phe322=) rs375550740 0.00002
NM_002617.4(PEX10):c.1A>G (p.Met1Val) rs886041314 0.00002
NM_002617.4(PEX10):c.447G>A (p.Thr149=) rs759220912 0.00002
NM_002617.4(PEX10):c.470G>A (p.Arg157Lys) rs772618705 0.00002
NM_002617.4(PEX10):c.600+1G>A rs267608183 0.00002
NM_002617.4(PEX10):c.601-29T>C rs1195070492 0.00002
NM_002617.4(PEX10):c.782C>G (p.Ser261Cys) rs1208669638 0.00002
NM_002617.4(PEX10):c.823C>T (p.Leu275=) rs752928632 0.00002
NM_002617.4(PEX10):c.857C>T (p.Thr286Met) rs774205482 0.00002
NM_002617.4(PEX10):c.865G>A (p.Gly289Ser) rs556603981 0.00002
NM_000287.4(PEX6):c.1027C>T (p.Arg343Trp) rs977542433 0.00001
NM_000287.4(PEX6):c.1233+1G>A rs763459576 0.00001
NM_000287.4(PEX6):c.1236G>A (p.Val412=) rs1196012985 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000287.4(PEX6):c.1365A>G (p.Pro455=) rs759402659 0.00001
NM_000287.4(PEX6):c.1406G>A (p.Arg469Gln) rs773105735 0.00001
NM_000287.4(PEX6):c.1417G>A (p.Gly473Ser) rs774874010 0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225 0.00001
NM_000287.4(PEX6):c.1810A>G (p.Ile604Val) rs370855809 0.00001
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln) rs746117128 0.00001
NM_000287.4(PEX6):c.202G>A (p.Gly68Ser) rs752644254 0.00001
NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp) rs748535121 0.00001
NM_000287.4(PEX6):c.2142G>T (p.Lys714Asn) rs371619603 0.00001
NM_000287.4(PEX6):c.2347G>A (p.Glu783Lys) rs757161798 0.00001
NM_000287.4(PEX6):c.2359G>A (p.Glu787Lys) rs202019439 0.00001
NM_000287.4(PEX6):c.2362+1G>A rs1443107232 0.00001
NM_000287.4(PEX6):c.2441G>A (p.Arg814Gln) rs757780839 0.00001
NM_000287.4(PEX6):c.2512A>G (p.Ser838Gly) rs759682469 0.00001
NM_000287.4(PEX6):c.2585G>T (p.Gly862Val) rs764227040 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000287.4(PEX6):c.2643C>T (p.Arg881=) rs150853105 0.00001
NM_000287.4(PEX6):c.2729C>T (p.Thr910Met) rs762089817 0.00001
NM_000287.4(PEX6):c.2891dup (p.Gln965fs) rs753862792 0.00001
NM_000287.4(PEX6):c.407C>A (p.Pro136Gln) rs376824422 0.00001
NM_000287.4(PEX6):c.410G>A (p.Arg137Gln) rs1254025750 0.00001
NM_000287.4(PEX6):c.517del (p.Ser173fs) rs61753212 0.00001
NM_000287.4(PEX6):c.686G>A (p.Arg229Lys) rs1260446318 0.00001
NM_000287.4(PEX6):c.795C>G (p.Pro265=) rs545106357 0.00001
NM_000287.4(PEX6):c.901A>G (p.Ile301Val) rs578234477 0.00001
NM_000318.3(PEX2):c.129A>G (p.Gly43=) rs779946897 0.00001
NM_000318.3(PEX2):c.23C>T (p.Ala8Val) rs148428490 0.00001
NM_000318.3(PEX2):c.312C>G (p.Ile104Met) rs1242924229 0.00001
NM_000318.3(PEX2):c.331A>G (p.Ile111Val) rs774994658 0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NM_000318.3(PEX2):c.461T>C (p.Phe154Ser) rs755169713 0.00001
NM_000318.3(PEX2):c.466A>G (p.Ile156Val) rs148972539 0.00001
NM_000318.3(PEX2):c.54C>A (p.Ser18Arg) rs545785018 0.00001
NM_000318.3(PEX2):c.66A>C (p.Ala22=) rs572094828 0.00001
NM_000318.3(PEX2):c.716C>T (p.Thr239Ile) rs1264938864 0.00001
NM_000318.3(PEX2):c.742G>A (p.Gly248Arg) rs1277419329 0.00001
NM_000318.3(PEX2):c.76A>G (p.Asn26Asp) rs977528373 0.00001
NM_000318.3(PEX2):c.825C>T (p.Asp275=) rs367649632 0.00001
NM_000466.3(PEX1):c.1277T>C (p.Met426Thr) rs780611674 0.00001
NM_000466.3(PEX1):c.1285G>A (p.Val429Ile) rs780349018 0.00001
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser) rs560969584 0.00001
NM_000466.3(PEX1):c.1338G>A (p.Lys446=) rs543863652 0.00001
NM_000466.3(PEX1):c.1609A>G (p.Lys537Glu) rs1378023176 0.00001
NM_000466.3(PEX1):c.1620C>G (p.Asn540Lys) rs917874479 0.00001
NM_000466.3(PEX1):c.1750A>G (p.Met584Val) rs758085238 0.00001
NM_000466.3(PEX1):c.1754C>T (p.Ser585Phe) rs1792225580 0.00001
NM_000466.3(PEX1):c.1767A>T (p.Gly589=) rs1364124177 0.00001
NM_000466.3(PEX1):c.1810G>A (p.Gly604Arg) rs148427398 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.2071+3A>G rs1189294296 0.00001
NM_000466.3(PEX1):c.2138A>G (p.Gln713Arg) rs1356967048 0.00001
NM_000466.3(PEX1):c.2278G>C (p.Asp760His) rs757149759 0.00001
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter) rs61750417 0.00001
NM_000466.3(PEX1):c.2554C>T (p.Leu852Phe) rs202090176 0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422 0.00001
NM_000466.3(PEX1):c.263A>T (p.Asn88Ile) rs763218526 0.00001
NM_000466.3(PEX1):c.2707A>G (p.Ile903Val) rs1009218596 0.00001
NM_000466.3(PEX1):c.2708T>A (p.Ile903Lys) rs1305700033 0.00001
NM_000466.3(PEX1):c.2743A>T (p.Ile915Phe) rs376029287 0.00001
NM_000466.3(PEX1):c.2783+4G>A rs751416309 0.00001
NM_000466.3(PEX1):c.2784-7T>C rs777893142 0.00001
NM_000466.3(PEX1):c.2833A>G (p.Ile945Val) rs753349772 0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460 0.00001
NM_000466.3(PEX1):c.2853T>C (p.His951=) rs768094112 0.00001
NM_000466.3(PEX1):c.2926+4A>G rs749060853 0.00001
NM_000466.3(PEX1):c.2942C>T (p.Ala981Val) rs780843399 0.00001
NM_000466.3(PEX1):c.2993G>A (p.Arg998Gln) rs61750429 0.00001
NM_000466.3(PEX1):c.3068C>G (p.Ser1023Cys) rs547203417 0.00001
NM_000466.3(PEX1):c.3151C>A (p.Leu1051Ile) rs138992611 0.00001
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=) rs768417678 0.00001
NM_000466.3(PEX1):c.3208-1G>A rs1057517518 0.00001
NM_000466.3(PEX1):c.3208-3T>C rs763767937 0.00001
NM_000466.3(PEX1):c.3304T>C (p.Cys1102Arg) rs752475812 0.00001
NM_000466.3(PEX1):c.3510G>A (p.Leu1170=) rs368014758 0.00001
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=) rs753334806 0.00001
NM_000466.3(PEX1):c.3692A>G (p.Gln1231Arg) rs766682184 0.00001
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter) rs755549316 0.00001
NM_000466.3(PEX1):c.3839T>A (p.Val1280Glu) rs765142376 0.00001
NM_000466.3(PEX1):c.440T>C (p.Val147Ala) rs750928084 0.00001
NM_000466.3(PEX1):c.541A>C (p.Thr181Pro) rs775093154 0.00001
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408 0.00001
NM_000466.3(PEX1):c.688G>A (p.Glu230Lys) rs781371997 0.00001
NM_000466.3(PEX1):c.693C>T (p.Asn231=) rs1463386429 0.00001
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del) rs754890130 0.00001
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro) rs753823218 0.00001
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser) rs780119112 0.00001
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506 0.00001
NM_000466.3(PEX1):c.831G>A (p.Gln277=) rs1210178752 0.00001
NM_000466.3(PEX1):c.894T>C (p.Tyr298=) rs1792856461 0.00001
NM_002617.4(PEX10):c.248G>A (p.Arg83Gln) rs372894429 0.00001
NM_002617.4(PEX10):c.266C>T (p.Ser89Leu) rs769847524 0.00001
NM_002617.4(PEX10):c.29A>C (p.Glu10Ala) rs1367685379 0.00001
NM_002617.4(PEX10):c.338T>C (p.Leu113Pro) rs757778155 0.00001
NM_002617.4(PEX10):c.390C>G (p.Ser130Arg) rs1425257705 0.00001
NM_002617.4(PEX10):c.436C>T (p.Arg146Cys) rs1184194956 0.00001
NM_002617.4(PEX10):c.496G>A (p.Val166Ile) rs368864383 0.00001
NM_002617.4(PEX10):c.601-3C>G rs369643163 0.00001
NM_002617.4(PEX10):c.601-56C>T rs761449217 0.00001
NM_002617.4(PEX10):c.698G>A (p.Gly233Glu) rs372574195 0.00001
NM_002617.4(PEX10):c.718A>G (p.Arg240Gly) rs1424367364 0.00001
NM_002617.4(PEX10):c.776+9G>A rs528387404 0.00001
NM_002617.4(PEX10):c.931C>T (p.Arg311Trp) rs765965290 0.00001
NM_000287.4(PEX6):c.1226T>C (p.Leu409Ser) rs1355523119
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp) rs771063294
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1401_1403del (p.Leu468del) rs1222318292
NM_000287.4(PEX6):c.1513G>A (p.Gly505Arg) rs1769929969
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln) rs374396138
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln) rs375288192
NM_000287.4(PEX6):c.1833C>G (p.His611Gln) rs1335182312
NM_000287.4(PEX6):c.1935A>C (p.Ala645=) rs1769827119
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.2094+4G>A rs943511270
NM_000287.4(PEX6):c.2399T>C (p.Ile800Thr) rs748244253
NM_000287.4(PEX6):c.2635C>G (p.Gln879Glu) rs1769709206
NM_000287.4(PEX6):c.2702T>C (p.Val901Ala) rs1209841271
NM_000287.4(PEX6):c.277CGGGCG[1] (p.93RA[1]) rs61753208
NM_000287.4(PEX6):c.2816C>G (p.Pro939Arg) rs1129187
NM_000287.4(PEX6):c.2866G>T (p.Ala956Ser) rs774145857
NM_000287.4(PEX6):c.2907G>C (p.Arg969=) rs145243129
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.336G>T (p.Leu112=) rs1194598013
NM_000287.4(PEX6):c.346C>T (p.Leu116Phe) rs1770429515
NM_000287.4(PEX6):c.635T>A (p.Leu212His) rs779822002
NM_000287.4(PEX6):c.751C>G (p.Leu251Val) rs769332435
NM_000287.4(PEX6):c.855C>A (p.Pro285=) rs757897959
NM_000287.4(PEX6):c.948A>T (p.Pro316=) rs781704566
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) rs61752122
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.571A>C (p.Met191Leu) rs747946744
NM_000318.3(PEX2):c.717C>T (p.Thr239=) rs2132043284
NM_000318.3(PEX2):c.733G>C (p.Ala245Pro) rs112108739
NM_000318.3(PEX2):c.915T>A (p.Leu305=) rs1806889622
NM_000466.3(PEX1):c.1056G>A (p.Val352=) rs1348024001
NM_000466.3(PEX1):c.1077G>A (p.Lys359=) rs138905930
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn) rs138905930
NM_000466.3(PEX1):c.1108dup (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.1152A>G (p.Leu384=) rs776933950
NM_000466.3(PEX1):c.1230G>A (p.Gly410=) rs539382251
NM_000466.3(PEX1):c.129+8G>A rs1793393956
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs) rs1792596054
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1434T>G (p.Leu478=) rs757668497
NM_000466.3(PEX1):c.1582A>G (p.Ile528Val) rs1792432441
NM_000466.3(PEX1):c.1638T>A (p.Phe546Leu) rs1397315670
NM_000466.3(PEX1):c.1646C>G (p.Pro549Arg) rs751131750
NM_000466.3(PEX1):c.1716_1717del (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln) rs370483961
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.1842del (p.Glu615fs) rs267608176
NM_000466.3(PEX1):c.1867C>A (p.His623Asn) rs1792183513
NM_000466.3(PEX1):c.1877G>C (p.Arg626Thr) rs1310822252
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe) rs193221288
NM_000466.3(PEX1):c.2086A>G (p.Ile696Val) rs1792018651
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2145G>T (p.Gln715His) rs1292385792
NM_000466.3(PEX1):c.2389T>A (p.Ser797Thr) rs1024476499
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs) rs61750414
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter) rs1232449804
NM_000466.3(PEX1):c.2565T>G (p.Thr855=) rs1472376635
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.2584-21dup rs5885806
NM_000466.3(PEX1):c.2693G>A (p.Ser898Asn) rs1791831263
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2783+2T>C rs1585224312
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr) rs566068815
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=) rs1030151030
NM_000466.3(PEX1):c.3181G>A (p.Gly1061Arg) rs1230486358
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer) rs1585214453
NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del) rs758076338
NM_000466.3(PEX1):c.3463A>C (p.Ser1155Arg) rs1791190751
NM_000466.3(PEX1):c.3602G>A (p.Ser1201Asn) rs1791175493
NM_000466.3(PEX1):c.3617G>T (p.Arg1206Ile) rs574785174
NM_000466.3(PEX1):c.3637-3_3637-1del rs2116039871
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.3722C>T (p.Thr1241Ile) rs1791136903
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.472+5G>A rs1792887658
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.3(PEX1):c.642A>C (p.Gln214His) rs760441307
NM_000466.3(PEX1):c.68A>G (p.Asn23Ser) rs1793399605
NM_000466.3(PEX1):c.711T>A (p.Val237=) rs758443247
NM_000466.3(PEX1):c.788_789del (p.Thr263fs) rs61750404
NM_000466.3(PEX1):c.852C>A (p.Asp284Glu) rs1792859390
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser) rs751506204
NM_002617.4(PEX10):c.341A>G (p.Glu114Gly) rs554490737
NM_002617.4(PEX10):c.4del (p.Ala2fs) rs62636524
NM_002617.4(PEX10):c.601-42C>A rs1164836731
NM_002617.4(PEX10):c.604C>A (p.Arg202Ser) rs149615608
NM_002617.4(PEX10):c.604C>T (p.Arg202Cys) rs149615608
NM_002617.4(PEX10):c.712G>A (p.Gly238Ser) rs61736380
NM_002617.4(PEX10):c.757C>T (p.Arg253Cys) rs756537855
NM_002617.4(PEX10):c.819C>T (p.Cys273=) rs1570098961
NM_002617.4(PEX10):c.81C>G (p.Ser27Arg) rs1257672002
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter) rs62641225
NM_002617.4(PEX10):c.913-9T>C rs1642980853
NM_002617.4(PEX10):c.946C>T (p.Pro316Ser) rs1642979023

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