ClinVar Miner

List of variants studied for Zellweger syndrome

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ClinVar version:
Total variants: 208
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HGVS dbSNP
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915
NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala) rs146025917
NM_000287.4(PEX6):c.1082C>T (p.Thr361Ile)
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn) rs535326039
NM_000287.4(PEX6):c.1226T>C (p.Leu409Ser)
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.1236G>A (p.Val412=)
NM_000287.4(PEX6):c.1255G>C (p.Val419Leu)
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1480-5C>T rs376473597
NM_000287.4(PEX6):c.1513G>A (p.Gly505Arg)
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224
NM_000287.4(PEX6):c.1935A>C (p.Ala645=)
NM_000287.4(PEX6):c.202G>A (p.Gly68Ser) rs752644254
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736
NM_000287.4(PEX6):c.2094+4G>A
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308
NM_000287.4(PEX6):c.2362+1G>A rs1443107232
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr)
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855
NM_000287.4(PEX6):c.2643C>T (p.Arg881=) rs150853105
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)
NM_000287.4(PEX6):c.2736G>A (p.Ala912=) rs202049230
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187
NM_000287.4(PEX6):c.2907G>C (p.Arg969=) rs145243129
NM_000287.4(PEX6):c.2924G>T (p.Arg975Leu)
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858
NM_000287.4(PEX6):c.411G>A (p.Arg137=) rs769196737
NM_000287.4(PEX6):c.657G>A (p.Gln219=) rs375588028
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220
NM_000287.4(PEX6):c.883-3T>C rs9986447
NM_000287.4(PEX6):c.970G>A (p.Glu324Lys) rs201678533
NM_000318.3(PEX2):c.129A>G (p.Gly43=) rs779946897
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg) rs138590115
NM_000318.3(PEX2):c.24G>A (p.Ala8=) rs9298285
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) rs61752122
NM_000318.3(PEX2):c.288G>A (p.Gln96=) rs370236723
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000318.3(PEX2):c.331A>G (p.Ile111Val)
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124
NM_000318.3(PEX2):c.447T>G (p.Gly149=) rs375401977
NM_000318.3(PEX2):c.54C>A (p.Ser18Arg)
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739
NM_000318.3(PEX2):c.76A>G (p.Asn26Asp)
NM_000318.3(PEX2):c.795T>C (p.Tyr265=) rs764785488
NM_000318.3(PEX2):c.825C>T (p.Asp275=) rs367649632
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys) rs544763390
NM_000318.3(PEX2):c.915T>A (p.Leu305=)
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302
NM_000466.3(PEX1):c.-137T>C rs12386601
NM_000466.3(PEX1):c.-53C>G rs12386703
NM_000466.3(PEX1):c.1077G>A (p.Lys359=) rs138905930
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1152A>G (p.Leu384=) rs776933950
NM_000466.3(PEX1):c.1175A>G (p.Glu392Gly)
NM_000466.3(PEX1):c.1230G>A (p.Gly410=) rs539382251
NM_000466.3(PEX1):c.1240A>G (p.Ile414Val) rs759491353
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467
NM_000466.3(PEX1):c.129+8G>A
NM_000466.3(PEX1):c.130-9T>C rs377337949
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser) rs560969584
NM_000466.3(PEX1):c.1360-7C>T rs371890000
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.144A>C (p.Glu48Asp)
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667
NM_000466.3(PEX1):c.1582A>G (p.Ile528Val)
NM_000466.3(PEX1):c.1587+1G>A rs1057517469
NM_000466.3(PEX1):c.1587+5T>C rs199526105
NM_000466.3(PEX1):c.1620C>G (p.Asn540Lys)
NM_000466.3(PEX1):c.1638T>A (p.Phe546Leu)
NM_000466.3(PEX1):c.1714_1715CA[1] (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796
NM_000466.3(PEX1):c.1750A>G (p.Met584Val)
NM_000466.3(PEX1):c.1754C>T (p.Ser585Phe)
NM_000466.3(PEX1):c.1772G>A (p.Arg591Lys)
NM_000466.3(PEX1):c.1815A>G (p.Lys605=) rs112688556
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp) rs398123408
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe) rs193221288
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631
NM_000466.3(PEX1):c.2071+3A>G
NM_000466.3(PEX1):c.2086A>G (p.Ile696Val)
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)
NM_000466.3(PEX1):c.2278G>C (p.Asp760His) rs757149759
NM_000466.3(PEX1):c.2330_2331delinsA (p.Gly777fs)
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418
NM_000466.3(PEX1):c.2389T>A (p.Ser797Thr)
NM_000466.3(PEX1):c.2468del (p.Pro823fs) rs766947924
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter)
NM_000466.3(PEX1):c.249del (p.Lys83fs)
NM_000466.3(PEX1):c.2554C>T (p.Leu852Phe)
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr) rs143283146
NM_000466.3(PEX1):c.2584-21dup rs5885806
NM_000466.3(PEX1):c.2633_2635TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) rs201719745
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2743A>T (p.Ile915Phe)
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2784-7T>C rs777893142
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021
NM_000466.3(PEX1):c.2816_2817del (p.Phe938_Phe939insTer)
NM_000466.3(PEX1):c.2833A>G (p.Ile945Val)
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2926+1del
NM_000466.3(PEX1):c.2926+2T>C rs267608180
NM_000466.3(PEX1):c.2926+4A>G
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr) rs566068815
NM_000466.3(PEX1):c.2993G>A (p.Arg998Gln)
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928
NM_000466.3(PEX1):c.3003dup (p.Cys1002fs)
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696
NM_000466.3(PEX1):c.3068C>G (p.Ser1023Cys)
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=)
NM_000466.3(PEX1):c.3172G>A (p.Ala1058Thr)
NM_000466.3(PEX1):c.3181G>A (p.Gly1061Arg)
NM_000466.3(PEX1):c.3196A>C (p.Ser1066Arg)
NM_000466.3(PEX1):c.3198T>C (p.Ser1066=) rs150190899
NM_000466.3(PEX1):c.3208-3T>C
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly)
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.3304T>C (p.Cys1102Arg)
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser) rs147870525
NM_000466.3(PEX1):c.3381G>A (p.Arg1127=) rs148972713
NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del) rs758076338
NM_000466.3(PEX1):c.3451_3452CT[2] (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430
NM_000466.3(PEX1):c.358-11G>C rs113104510
NM_000466.3(PEX1):c.358-15G>A rs38809
NM_000466.3(PEX1):c.3650T>G (p.Met1217Arg)
NM_000466.3(PEX1):c.3689_3692GTCA[1] (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu) rs1473858573
NM_000466.3(PEX1):c.3832C>A (p.Gln1278Lys) rs750722718
NM_000466.3(PEX1):c.457A>G (p.Ile153Val)
NM_000466.3(PEX1):c.472+5G>A
NM_000466.3(PEX1):c.541A>C (p.Thr181Pro)
NM_000466.3(PEX1):c.545G>C (p.Arg182Pro)
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969
NM_000466.3(PEX1):c.642A>C (p.Gln214His)
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) rs372485912
NM_000466.3(PEX1):c.693C>T (p.Asn231=)
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del)
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142
NM_000466.3(PEX1):c.819_835delinsGTCT (p.Phe273fs)
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506
NM_000466.3(PEX1):c.831G>A (p.Gln277=) rs1210178752
NM_000466.3(PEX1):c.889A>G (p.Ile297Val) rs181796768
NM_000466.3(PEX1):c.891A>G (p.Ile297Met) rs143206380
NM_002617.3(PEX10):c.4del (p.Ala2fs) rs62636524
NM_002617.4(PEX10):c.144G>A (p.Glu48=) rs141263967
NM_002617.4(PEX10):c.27G>A (p.Pro9=) rs559431523
NM_002617.4(PEX10):c.533A>G (p.His178Arg)
NM_002617.4(PEX10):c.601-3C>G
NM_002617.4(PEX10):c.604C>A (p.Arg202Ser)
NM_002617.4(PEX10):c.621C>G (p.Pro207=) rs140107510
NM_002617.4(PEX10):c.771C>T (p.His257=) rs776503441
NM_002617.4(PEX10):c.776+5G>A
NM_002617.4(PEX10):c.776+9G>A rs528387404
NM_002617.4(PEX10):c.779C>A (p.Ala260Asp)
NM_002617.4(PEX10):c.782C>G (p.Ser261Cys)
NM_002617.4(PEX10):c.819C>T (p.Cys273=) rs1570098961
NM_002617.4(PEX10):c.81C>G (p.Ser27Arg)
NM_002617.4(PEX10):c.823C>T (p.Leu275=) rs752928632
NM_002617.4(PEX10):c.864C>T (p.Cys288=) rs762621687
NM_002617.4(PEX10):c.913-9T>C
NM_153818.1(PEX10):c.291A>G (p.Thr97=) rs2494598
NM_153818.1(PEX10):c.316C>T (p.Leu106=) rs140340426
NM_153818.1(PEX10):c.318G>A (p.Leu106=) rs146452560
NM_153818.1(PEX10):c.332T>C (p.Leu111Pro) rs35426403
NM_153818.1(PEX10):c.418G>C (p.Gly140Arg) rs76530653
NM_153818.1(PEX10):c.427C>T (p.Arg143Cys) rs199667764
NM_153818.1(PEX10):c.435G>A (p.Met145Ile) rs368273118
NM_153818.1(PEX10):c.555C>T (p.His185=) rs75377471
NM_153818.1(PEX10):c.600+1G>A rs267608183
NM_153818.1(PEX10):c.634A>G (p.Met212Val) rs144264865
NM_153818.1(PEX10):c.665G>A (p.Arg222His) rs371979619
NM_153818.1(PEX10):c.671G>A (p.Arg224His) rs199934621
NM_153818.1(PEX10):c.700C>T (p.Arg234Cys) rs536486149
NM_153818.1(PEX10):c.764dup (p.Leu256fs) rs61750435
NM_153818.1(PEX10):c.772G>C (p.Gly258Arg) rs61736380
NM_153818.1(PEX10):c.825G>A (p.Leu275=) rs140133667
NM_153818.1(PEX10):c.874_875del (p.Leu292fs) rs61752093
NM_153818.1(PEX10):c.899G>A (p.Arg300His) rs758678654
NM_153818.1(PEX10):c.903G>A (p.Arg301=) rs35082957
NM_153818.1(PEX10):c.956C>T (p.Ala319Val) rs78620392
NM_153818.1(PEX10):c.975G>A (p.Ala325=) rs374891812
NM_153818.2(PEX10):c.266C>T rs769847524

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