ClinVar Miner

List of variants in gene PEX2 reported as uncertain significance for peroxisomal disease

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 226
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HGVS dbSNP gnomAD frequency
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_000318.3(PEX2):c.*1174A>G rs562263817 0.00343
NM_000318.3(PEX2):c.*1012C>T rs181539288 0.00300
NM_000318.3(PEX2):c.*2894T>C rs569387185 0.00257
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_000318.3(PEX2):c.*659C>G rs551943990 0.00148
NM_000318.3(PEX2):c.*1716A>G rs192555214 0.00107
NM_000318.3(PEX2):c.-183G>T rs568404564 0.00106
NM_000318.3(PEX2):c.*2057G>A rs568202276 0.00052
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser) rs140963177 0.00046
NM_000318.3(PEX2):c.322G>C (p.Val108Leu) rs148101729 0.00043
NM_000318.3(PEX2):c.*1858G>A rs777834563 0.00031
NM_000318.3(PEX2):c.304C>A (p.Gln102Lys) rs200065382 0.00030
NM_000318.3(PEX2):c.*1749A>T rs556984036 0.00029
NM_000318.3(PEX2):c.447T>G (p.Gly149=) rs375401977 0.00027
NM_000318.3(PEX2):c.698G>A (p.Ser233Asn) rs200868032 0.00022
NM_000318.3(PEX2):c.*1400A>G rs1002618013 0.00016
NM_000318.3(PEX2):c.*2518C>T rs886063124 0.00016
NM_000318.3(PEX2):c.*1854A>C rs886063127 0.00014
NM_000318.3(PEX2):c.*595C>T rs754113775 0.00013
NM_000318.3(PEX2):c.*2519G>A rs1005895700 0.00012
NM_000318.3(PEX2):c.*596G>A rs139852334 0.00012
NM_000318.3(PEX2):c.*40G>A rs148915806 0.00011
NM_000318.3(PEX2):c.152G>A (p.Arg51His) rs549242503 0.00010
NM_000318.3(PEX2):c.*1755A>G rs886063129 0.00009
NM_000318.3(PEX2):c.*2973T>C rs751974703 0.00009
NM_000318.3(PEX2):c.*627G>T rs145960090 0.00008
NM_000318.3(PEX2):c.288G>A (p.Gln96=) rs370236723 0.00008
NM_000318.3(PEX2):c.769A>G (p.Ile257Val) rs199874465 0.00007
NM_000318.3(PEX2):c.*1370A>G rs886063131 0.00006
NM_000318.3(PEX2):c.*1561G>A rs886063130 0.00006
NM_000318.3(PEX2):c.*489C>T rs886063136 0.00006
NM_000318.3(PEX2):c.*705T>A rs569163196 0.00005
NM_000318.3(PEX2):c.*1331T>C rs950900674 0.00004
NM_000318.3(PEX2):c.*1602A>G rs557330187 0.00004
NM_000318.3(PEX2):c.*1808C>A rs980881594 0.00004
NM_000318.3(PEX2):c.*2294C>G rs763651452 0.00004
NM_000318.3(PEX2):c.*394T>C rs1010520129 0.00004
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg) rs138590115 0.00004
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala) rs750212948 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_000318.3(PEX2):c.*1047T>A rs886063133 0.00003
NM_000318.3(PEX2):c.*2920_*2922del rs746335104 0.00003
NM_000318.3(PEX2):c.*437T>C rs1210536989 0.00003
NM_000318.3(PEX2):c.151C>T (p.Arg51Cys) rs147209403 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_000318.3(PEX2):c.181T>C (p.Trp61Arg) rs772704218 0.00002
NM_000318.3(PEX2):c.257A>C (p.Lys86Thr) rs754127143 0.00002
NM_000318.3(PEX2):c.659T>G (p.Leu220Arg) rs773085309 0.00002
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys) rs544763390 0.00002
NM_000318.3(PEX2):c.*1581T>A rs1214852177 0.00001
NM_000318.3(PEX2):c.*2456C>T rs1461205423 0.00001
NM_000318.3(PEX2):c.*2787G>A rs886063123 0.00001
NM_000318.3(PEX2):c.*324G>T rs886063137 0.00001
NM_000318.3(PEX2):c.*498G>A rs541772029 0.00001
NM_000318.3(PEX2):c.*773T>G rs927177664 0.00001
NM_000318.3(PEX2):c.*91A>G rs886063139 0.00001
NM_000318.3(PEX2):c.-17-2A>G rs1289852067 0.00001
NM_000318.3(PEX2):c.-178C>T rs886063141 0.00001
NM_000318.3(PEX2):c.112A>G (p.Thr38Ala) rs935435870 0.00001
NM_000318.3(PEX2):c.129A>G (p.Gly43=) rs779946897 0.00001
NM_000318.3(PEX2):c.173C>T (p.Ala58Val) rs760636932 0.00001
NM_000318.3(PEX2):c.195G>T (p.Trp65Cys) rs771377186 0.00001
NM_000318.3(PEX2):c.205A>G (p.Ile69Val) rs747866716 0.00001
NM_000318.3(PEX2):c.206T>C (p.Ile69Thr) rs1180720095 0.00001
NM_000318.3(PEX2):c.226G>T (p.Val76Leu) rs1429397131 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.335G>C (p.Gly112Ala) rs745832638 0.00001
NM_000318.3(PEX2):c.456T>G (p.Ile152Met) rs1475014070 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.481G>A (p.Gly161Arg) rs377669414 0.00001
NM_000318.3(PEX2):c.482G>A (p.Gly161Glu) rs761177481 0.00001
NM_000318.3(PEX2):c.517A>G (p.Ile173Val) rs773748299 0.00001
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys) rs770427885 0.00001
NM_000318.3(PEX2):c.577A>G (p.Arg193Gly) rs1806905614 0.00001
NM_000318.3(PEX2):c.635A>G (p.Asn212Ser) rs764386648 0.00001
NM_000318.3(PEX2):c.666A>G (p.Ser222=) rs1806901488 0.00001
NM_000318.3(PEX2):c.703A>G (p.Asn235Asp) rs1345316527 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.782A>G (p.His261Arg) rs749956542 0.00001
NM_000318.3(PEX2):c.869T>G (p.Leu290Arg) rs756496949 0.00001
NM_000318.3(PEX2):c.916T>C (p.Ter306Gln) rs1554584372 0.00001
NC_000008.10:g.(?_77895497)_(77896414_?)dup
NM_000318.3(PEX2):c.*1085T>A rs886063132
NM_000318.3(PEX2):c.*1319A>T rs912151931
NM_000318.3(PEX2):c.*1466ATT[1] rs552746754
NM_000318.3(PEX2):c.*1606T>G rs1276104967
NM_000318.3(PEX2):c.*1811C>T rs886063128
NM_000318.3(PEX2):c.*2007A>T rs558850392
NM_000318.3(PEX2):c.*2404A>G rs1806798109
NM_000318.3(PEX2):c.*2430T>C rs886063126
NM_000318.3(PEX2):c.*2466A>G rs886063125
NM_000318.3(PEX2):c.*2700G>T rs1806788065
NM_000318.3(PEX2):c.*277_*279del rs886063138
NM_000318.3(PEX2):c.*37C>T rs886063140
NM_000318.3(PEX2):c.*419T>G rs1806878211
NM_000318.3(PEX2):c.*645G>T rs1806867628
NM_000318.3(PEX2):c.*780T>A rs1806859817
NM_000318.3(PEX2):c.*819A>C rs886063135
NM_000318.3(PEX2):c.*913C>T rs886063134
NM_000318.3(PEX2):c.-13del rs146402705
NM_000318.3(PEX2):c.101G>C (p.Trp34Ser)
NM_000318.3(PEX2):c.109T>A (p.Phe37Ile)
NM_000318.3(PEX2):c.116A>G (p.Gln39Arg) rs1427212561
NM_000318.3(PEX2):c.122T>A (p.Phe41Tyr)
NM_000318.3(PEX2):c.123T>A (p.Phe41Leu) rs2132044807
NM_000318.3(PEX2):c.140G>A (p.Gly47Glu)
NM_000318.3(PEX2):c.142C>G (p.Leu48Val)
NM_000318.3(PEX2):c.143T>C (p.Leu48Pro)
NM_000318.3(PEX2):c.148G>T (p.Ala50Ser)
NM_000318.3(PEX2):c.152G>T (p.Arg51Leu) rs549242503
NM_000318.3(PEX2):c.159_160delinsAT (p.Pro54Ser)
NM_000318.3(PEX2):c.166G>A (p.Val56Met) rs2132044712
NM_000318.3(PEX2):c.16G>C (p.Glu6Gln)
NM_000318.3(PEX2):c.190T>A (p.Leu64Met)
NM_000318.3(PEX2):c.19A>C (p.Asn7His) rs576066189
NM_000318.3(PEX2):c.221C>G (p.Ala74Gly) rs1305420150
NM_000318.3(PEX2):c.221C>T (p.Ala74Val)
NM_000318.3(PEX2):c.22G>T (p.Ala8Ser) rs2132045041
NM_000318.3(PEX2):c.238G>A (p.Val80Ile)
NM_000318.3(PEX2):c.247A>G (p.Ile83Val)
NM_000318.3(PEX2):c.248T>C (p.Ile83Thr) rs1806923661
NM_000318.3(PEX2):c.263A>G (p.Asp88Gly)
NM_000318.3(PEX2):c.265T>A (p.Phe89Ile) rs1463397236
NM_000318.3(PEX2):c.268T>A (p.Ser90Thr)
NM_000318.3(PEX2):c.275A>C (p.Asn92Thr) rs2132044452
NM_000318.3(PEX2):c.278T>C (p.Leu93Pro)
NM_000318.3(PEX2):c.280A>G (p.Arg94Gly)
NM_000318.3(PEX2):c.298A>G (p.Lys100Glu)
NM_000318.3(PEX2):c.320C>A (p.Ala107Asp)
NM_000318.3(PEX2):c.320C>T (p.Ala107Val) rs2132044318
NM_000318.3(PEX2):c.32C>A (p.Ala11Glu)
NM_000318.3(PEX2):c.344G>C (p.Trp115Ser)
NM_000318.3(PEX2):c.349GAA[1] (p.Glu118del) rs1554584507
NM_000318.3(PEX2):c.356G>A (p.Arg119Gln)
NM_000318.3(PEX2):c.361T>C (p.Tyr121His) rs1201697415
NM_000318.3(PEX2):c.362A>G (p.Tyr121Cys)
NM_000318.3(PEX2):c.365A>T (p.Asp122Val)
NM_000318.3(PEX2):c.368T>C (p.Leu123Ser) rs2132044164
NM_000318.3(PEX2):c.373C>G (p.Arg125Gly)
NM_000318.3(PEX2):c.377A>G (p.Asn126Ser) rs2132044121
NM_000318.3(PEX2):c.410A>G (p.Gln137Arg)
NM_000318.3(PEX2):c.412T>A (p.Cys138Ser) rs2132044038
NM_000318.3(PEX2):c.415G>T (p.Val139Leu) rs1806914302
NM_000318.3(PEX2):c.429T>G (p.Ile143Met)
NM_000318.3(PEX2):c.437T>C (p.Leu146Ser)
NM_000318.3(PEX2):c.44T>C (p.Leu15Pro)
NM_000318.3(PEX2):c.452T>C (p.Leu151Pro) rs2132043971
NM_000318.3(PEX2):c.483A>G (p.Gly161=) rs2132043885
NM_000318.3(PEX2):c.488T>G (p.Phe163Cys)
NM_000318.3(PEX2):c.494C>A (p.Thr165Asn)
NM_000318.3(PEX2):c.497T>G (p.Leu166Trp)
NM_000318.3(PEX2):c.500C>G (p.Thr167Arg)
NM_000318.3(PEX2):c.500C>T (p.Thr167Ile)
NM_000318.3(PEX2):c.505C>G (p.Arg169Gly) rs752394595
NM_000318.3(PEX2):c.505C>T (p.Arg169Cys)
NM_000318.3(PEX2):c.506G>A (p.Arg169His)
NM_000318.3(PEX2):c.506G>T (p.Arg169Leu) rs564144139
NM_000318.3(PEX2):c.526G>A (p.Val176Ile)
NM_000318.3(PEX2):c.54C>A (p.Ser18Arg) rs545785018
NM_000318.3(PEX2):c.550_551delinsCT (p.Cys184Leu) rs2132043720
NM_000318.3(PEX2):c.550_551inv (p.Cys184His)
NM_000318.3(PEX2):c.571A>C (p.Met191Leu) rs747946744
NM_000318.3(PEX2):c.573G>C (p.Met191Ile) rs2132043654
NM_000318.3(PEX2):c.575A>G (p.Asn192Ser)
NM_000318.3(PEX2):c.584T>C (p.Leu195Pro)
NM_000318.3(PEX2):c.5C>A (p.Ala2Asp)
NM_000318.3(PEX2):c.601G>A (p.Ala201Thr)
NM_000318.3(PEX2):c.604G>C (p.Glu202Gln)
NM_000318.3(PEX2):c.606A>T (p.Glu202Asp) rs376974246
NM_000318.3(PEX2):c.607T>C (p.Phe203Leu) rs1806904326
NM_000318.3(PEX2):c.608T>G (p.Phe203Cys) rs2132043579
NM_000318.3(PEX2):c.614T>G (p.Ile205Ser)
NM_000318.3(PEX2):c.619C>G (p.Leu207Val) rs143986865
NM_000318.3(PEX2):c.628C>T (p.Leu210Phe) rs1420998615
NM_000318.3(PEX2):c.62A>G (p.Asp21Gly) rs1484917700
NM_000318.3(PEX2):c.632T>C (p.Ile211Thr)
NM_000318.3(PEX2):c.641A>G (p.Gln214Arg)
NM_000318.3(PEX2):c.657G>C (p.Lys219Asn) rs1806902121
NM_000318.3(PEX2):c.671G>A (p.Cys224Tyr)
NM_000318.3(PEX2):c.673A>G (p.Ile225Val)
NM_000318.3(PEX2):c.685G>C (p.Gly229Arg)
NM_000318.3(PEX2):c.686G>A (p.Gly229Asp) rs2132043367
NM_000318.3(PEX2):c.688G>A (p.Ala230Thr) rs1475641448
NM_000318.3(PEX2):c.694A>G (p.Asn232Asp) rs1806899956
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla) rs1554584423
NM_000318.3(PEX2):c.715A>T (p.Thr239Ser)
NM_000318.3(PEX2):c.718A>C (p.Ser240Arg)
NM_000318.3(PEX2):c.733G>C (p.Ala245Pro) rs112108739
NM_000318.3(PEX2):c.736C>G (p.Leu246Val) rs757764014
NM_000318.3(PEX2):c.737T>C (p.Leu246Pro)
NM_000318.3(PEX2):c.752C>G (p.Pro251Arg)
NM_000318.3(PEX2):c.752C>T (p.Pro251Leu)
NM_000318.3(PEX2):c.757A>G (p.Met253Val)
NM_000318.3(PEX2):c.766A>G (p.Thr256Ala) rs1220452895
NM_000318.3(PEX2):c.76A>C (p.Asn26His) rs977528373
NM_000318.3(PEX2):c.773G>A (p.Gly258Glu) rs1428046580
NM_000318.3(PEX2):c.784A>G (p.Ile262Val) rs1806895422
NM_000318.3(PEX2):c.78C>G (p.Asn26Lys)
NM_000318.3(PEX2):c.78_80del (p.Asn26del) rs1806932884
NM_000318.3(PEX2):c.793_797del (p.Tyr265fs) rs2132043053
NM_000318.3(PEX2):c.794A>G (p.Tyr265Cys) rs2132043073
NM_000318.3(PEX2):c.809G>C (p.Ser270Thr)
NM_000318.3(PEX2):c.82G>A (p.Ala28Thr)
NM_000318.3(PEX2):c.830A>G (p.Tyr277Cys)
NM_000318.3(PEX2):c.854C>G (p.Thr285Arg)
NM_000318.3(PEX2):c.857_859del (p.Glu286del) rs1460738027
NM_000318.3(PEX2):c.866G>A (p.Ser289Asn)
NM_000318.3(PEX2):c.875C>T (p.Pro292Leu) rs2132042879
NM_000318.3(PEX2):c.881A>C (p.Lys294Thr) rs2132042875
NM_000318.3(PEX2):c.884C>G (p.Ser295Ter) rs1554584377
NM_000318.3(PEX2):c.884C>T (p.Ser295Leu)
NM_000318.3(PEX2):c.891C>G (p.Ile297Met)
NM_000318.3(PEX2):c.897G>A (p.Met299Ile) rs1806890153
NM_000318.3(PEX2):c.911C>T (p.Ala304Val)
NM_000318.3(PEX2):c.915T>A (p.Leu305=) rs1806889622
NM_000318.3(PEX2):c.92A>C (p.Gln31Pro) rs1806931527

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