ClinVar Miner

List of variants reported as uncertain significance for Peroxisome biogenesis disorder 1A (Zellweger)

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ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_002617.4(PEX10):c.-52_-51del rs570192538 0.00605
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
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_144709.4(PUS10):c.-16+316G>A rs571713221 0.00193
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881 0.00188
NM_003630.2(PEX3):c.-247T>C rs138955442 0.00187
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
NM_000466.3(PEX1):c.*292G>A rs138531138 0.00159
NM_000466.3(PEX1):c.130-9T>C rs377337949 0.00157
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583 0.00155
NM_000466.3(PEX1):c.2926+8T>C rs369877998 0.00093
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_000466.3(PEX1):c.-43T>G rs572810743 0.00058
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_004813.2(PEX16):c.-184A>G rs745333570 0.00051
NM_001351132.2(PEX5):c.1587C>T (p.Gly529=) rs144401814 0.00048
NM_001127649.3(PEX26):c.*2807_*2808del rs754613851 0.00046
NM_000466.3(PEX1):c.1360-4G>T rs199716270 0.00038
NM_000466.3(PEX1):c.2584-9del rs886062504 0.00034
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157 0.00034
NM_001351132.2(PEX5):c.*446_*452dup rs771366153 0.00032
NM_000466.3(PEX1):c.1360-7C>T rs371890000 0.00029
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_004813.2(PEX16):c.-164G>T rs773746164 0.00028
NM_000287.3(PEX6):c.-79C>T rs186587060 0.00024
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796 0.00022
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly) rs539784253 0.00018
NM_000466.3(PEX1):c.-19A>G rs368326503 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_002857.4(PEX19):c.*77del rs771535781 0.00015
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val) rs781277635 0.00014
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser) rs139364109 0.00013
NM_000466.3(PEX1):c.1587+5T>C rs199526105 0.00011
NM_000466.3(PEX1):c.2954G>A (p.Arg985His) rs202057449 0.00011
NM_000466.3(PEX1):c.3637-14T>C rs745612436 0.00008
NM_000466.3(PEX1):c.*428A>G rs769772779 0.00007
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val) rs561561515 0.00007
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala) rs371309198 0.00006
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg) rs201016626 0.00006
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385 0.00006
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603 0.00006
NM_000466.3(PEX1):c.2927-12T>A rs375062546 0.00006
NM_004813.4(PEX16):c.*341C>T rs559300237 0.00006
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_000287.3(PEX6):c.-39G>A rs76974379 0.00004
NM_000287.4(PEX6):c.690G>A (p.Glu230=) rs368341252 0.00004
NM_000318.2(PEX2):c.-367A>G rs886063144 0.00004
NM_000466.3(PEX1):c.*133G>C rs886062500 0.00004
NM_000466.3(PEX1):c.*234T>C rs1004289500 0.00004
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425 0.00004
NM_000466.3(PEX1):c.952G>A (p.Asp318Asn) rs754893068 0.00004
NM_001127649.3(PEX26):c.*912C>T rs79240512 0.00004
NM_000286.3(PEX12):c.349A>G (p.Ile117Val) rs767207001 0.00003
NM_000287.3(PEX6):c.-62C>A rs886061413 0.00003
NM_000318.3(PEX2):c.*2920_*2922del rs746335104 0.00003
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala) rs775544654 0.00003
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=) rs776231556 0.00003
NM_000466.3(PEX1):c.3566C>T (p.Thr1189Ile) rs749324355 0.00003
NM_001351132.2(PEX5):c.551+15C>T rs886049825 0.00003
NM_000466.3(PEX1):c.*180A>G rs996832628 0.00002
NM_000466.3(PEX1):c.2072C>T (p.Ala691Val) rs150351763 0.00002
NM_000466.3(PEX1):c.2455C>T (p.Arg819Cys) rs983157165 0.00002
NM_000286.3(PEX12):c.*335T>C rs886052830 0.00001
NM_000287.3(PEX6):c.-71C>G rs886061414 0.00001
NM_000287.4(PEX6):c.2877A>G (p.Gln959=) rs562040179 0.00001
NM_000466.3(PEX1):c.*236C>A rs1403267319 0.00001
NM_000466.3(PEX1):c.-45T>C rs886062509 0.00001
NM_000466.3(PEX1):c.-77C>G rs1301449696 0.00001
NM_000466.3(PEX1):c.1671-13A>G rs757960956 0.00001
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000466.3(PEX1):c.1945T>G (p.Ser649Ala) rs1251466114 0.00001
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala) rs886062505 0.00001
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile) rs750911436 0.00001
NM_000466.3(PEX1):c.2518_2520del (p.Asp840del) rs1385204416 0.00001
NM_000466.3(PEX1):c.2767C>T (p.Arg923Trp) rs780992963 0.00001
NM_000466.3(PEX1):c.2927-8T>C rs778618662 0.00001
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=) rs1009877821 0.00001
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=) rs768417678 0.00001
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=) rs374673391 0.00001
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=) rs777384403 0.00001
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter) rs755549316 0.00001
NM_000466.3(PEX1):c.724G>A (p.Val242Ile) rs764044654 0.00001
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506 0.00001
NM_002857.4(PEX19):c.*469C>T rs886045446 0.00001
NC_000007.14:g.(?_92487437)_(92487561_?)del
NM_000286.3(PEX12):c.*767CTAAT[1] rs886052825
NM_000318.2(PEX2):c.-273G>A rs367767138
NM_000318.2(PEX2):c.-278C>G rs886063142
NM_000318.2(PEX2):c.-335C>T rs886063143
NM_000318.2(PEX2):c.-369C>T rs886063145
NM_000318.3(PEX2):c.*1466ATT[1] rs552746754
NM_000318.3(PEX2):c.*277_*279del rs886063138
NM_000318.3(PEX2):c.-13del rs146402705
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del) rs1357462196
NM_000466.3(PEX1):c.*241T>C rs886062499
NM_000466.3(PEX1):c.-74A>G rs886062510
NM_000466.3(PEX1):c.-82C>G rs1169565016
NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del) rs1554375280
NM_000466.3(PEX1):c.122TGC[3] (p.Leu42dup) rs1554378340
NM_000466.3(PEX1):c.129+10C>T rs886062508
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1524AAAAGA[1] (p.508EK[1]) rs1554373613
NM_000466.3(PEX1):c.1593_1595del (p.Leu532del) rs1554373273
NM_000466.3(PEX1):c.1670+5G>T rs201343162
NM_000466.3(PEX1):c.1688G>A (p.Gly563Asp) rs2116181769
NM_000466.3(PEX1):c.1716C>A (p.His572Gln) rs1792228135
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser) rs200991412
NM_000466.3(PEX1):c.1804-12A>G rs143041528
NM_000466.3(PEX1):c.1829_1830del (p.Lys610fs) rs1562857333
NM_000466.3(PEX1):c.1901-14T>C rs1792111444
NM_000466.3(PEX1):c.2039_2050del (p.Pro680_Val683del) rs1554372090
NM_000466.3(PEX1):c.2099T>C (p.Ile700Thr) rs1792017598
NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3]) rs1554371691
NM_000466.3(PEX1):c.2262_2264del (p.Lys754del) rs1554371157
NM_000466.3(PEX1):c.2306T>C (p.Leu769Pro) rs767182250
NM_000466.3(PEX1):c.2400_2402dup (p.Ile801dup) rs1554371019
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2817TGA[1] (p.Asp940del) rs1554368794
NM_000466.3(PEX1):c.2873_2875delinsT (p.Asp958fs) rs2116094537
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro) rs773206107
NM_000466.3(PEX1):c.2912T>C (p.Val971Ala) rs745667444
NM_000466.3(PEX1):c.2995C>A (p.Leu999Ile) rs1791529840
NM_000466.3(PEX1):c.3030+12A>G rs1163936793
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3119_3130del (p.Asp1040_Thr1043del) rs1554368148
NM_000466.3(PEX1):c.3161C>T (p.Ala1054Val) rs886062503
NM_000466.3(PEX1):c.3221G>T (p.Ser1074Ile) rs1164302223
NM_000466.3(PEX1):c.346T>C (p.Trp116Arg)
NM_000466.3(PEX1):c.3503A>C (p.Asp1168Ala) rs182452430
NM_000466.3(PEX1):c.3546A>G (p.Gln1182=) rs886062502
NM_000466.3(PEX1):c.3572A>C (p.Glu1191Ala) rs2116043736
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=) rs886062501
NM_000466.3(PEX1):c.36_38dup (p.Gly14dup) rs1554378403
NM_000466.3(PEX1):c.3732_3736dup (p.Ser1246fs) rs1554366550
NM_000466.3(PEX1):c.3767+1_3767+2dup rs1383361108
NM_000466.3(PEX1):c.3768-1G>A rs770868309
NM_000466.3(PEX1):c.3768-2A>T rs1554365998
NM_000466.3(PEX1):c.3807_3808dup (p.Ser1270fs) rs758748151
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly) rs886062507
NM_000466.3(PEX1):c.927C>G (p.His309Gln) rs2116244426
NM_000466.3(PEX1):c.96G>A (p.Pro32=) rs1445565547
NM_001127649.3(PEX26):c.*1623GTTT[7] rs375436648
NM_001127649.3(PEX26):c.*2070del rs886057256
NM_001127649.3(PEX26):c.*2799dup rs751296123
NM_001127649.3(PEX26):c.*609GA[3] rs886057249
NM_001351132.2(PEX5):c.*991_*992dup rs886049833
NM_001351132.2(PEX5):c.-17+21_-17+22insCCG rs886049824
NM_001351132.2(PEX5):c.-17+22_-17+40delinsCC rs775869915
NM_001351132.2(PEX5):c.1647C>G (p.Leu549=) rs753512677
NM_002617.4(PEX10):c.*744dup rs886046139
NM_002618.4(PEX13):c.*1875_*1876del rs886056205
NM_002618.4(PEX13):c.*2989_*2990del rs886056210
NM_002618.4(PEX13):c.*3044del rs886056212
NM_002618.4(PEX13):c.*442dup rs201619544
NM_002857.4(PEX19):c.*2417CT[2] rs143491060
NM_002857.4(PEX19):c.630A>C (p.Leu210=) rs202174805
NM_003630.3(PEX3):c.*307TA[7] rs1326299129
NM_003630.3(PEX3):c.*321_*322del rs771525459
NM_003630.3(PEX3):c.-150CT[3] rs886061131
NM_003630.3(PEX3):c.-175dup rs886061130
NM_003630.3(PEX3):c.190A>C (p.Thr64Pro)
NM_004565.3(PEX14):c.*174C>T rs886045018
NM_004565.3(PEX14):c.*755del rs548721184
NM_004813.2(PEX16):c.-265C>T rs886048330
NM_004813.2(PEX16):c.-290C>G rs886048331
NM_004813.2(PEX16):c.-305C>T rs886048332
NM_004813.2(PEX16):c.-67C>A rs886048329
NM_004813.4(PEX16):c.628C>T (p.Pro210Ser) rs754114296

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