ClinVar Miner

List of variants in gene PEX2 studied for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 455
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HGVS dbSNP gnomAD frequency
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg) rs10087163 0.98578
NM_000318.3(PEX2):c.*1194A>G rs4311633 0.98172
NM_000318.3(PEX2):c.*2377A>G rs4388434 0.94963
NM_000318.3(PEX2):c.*727T>C rs4610720 0.94956
NM_000318.3(PEX2):c.*2663T>A rs28435921 0.50526
NM_000318.3(PEX2):c.-164C>A rs12718 0.21609
NM_000318.3(PEX2):c.*1141G>A rs10108054 0.03721
NM_000318.3(PEX2):c.*1909G>T rs112352942 0.03714
NM_000318.3(PEX2):c.*2446C>T rs73242165 0.03710
NM_000318.3(PEX2):c.24G>A (p.Ala8=) rs9298285 0.03660
NM_000318.3(PEX2):c.*2338C>T rs56231626 0.03506
NM_000318.3(PEX2):c.*2142A>G rs79700176 0.03415
NM_000318.3(PEX2):c.*1696C>T rs112199677 0.03286
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739 0.02536
NM_000318.3(PEX2):c.*458G>A rs143201132 0.02392
NM_000318.3(PEX2):c.550= (p.Cys184=) rs10087163 0.01422
NM_000318.3(PEX2):c.*1601T>A rs116949534 0.01081
NM_000318.3(PEX2):c.*1242A>G rs73691481 0.01024
NM_000318.3(PEX2):c.*2306A>G rs59296540 0.01019
NM_000318.3(PEX2):c.*2554G>A rs116215385 0.01018
NM_000318.3(PEX2):c.*319A>G rs78045204 0.00610
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_000318.3(PEX2):c.*1842G>C rs184573256 0.00523
NM_000318.3(PEX2):c.*1040C>G rs139337482 0.00490
NM_000318.3(PEX2):c.*2443A>G rs76770837 0.00372
NM_000318.3(PEX2):c.*789C>T rs144050052 0.00361
NM_000318.3(PEX2):c.*1174A>G rs562263817 0.00343
NM_000318.3(PEX2):c.*1448C>T rs184740361 0.00303
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.477G>A (p.Gln159=) rs35218706 0.00178
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.722G>T (p.Gly241Val) rs150734057 0.00067
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe) rs146354196 0.00064
NM_000318.3(PEX2):c.*1765G>A rs60300869 0.00063
NM_000318.3(PEX2):c.237A>G (p.Ser79=) rs138220337 0.00063
NM_000318.3(PEX2):c.*2057G>A rs568202276 0.00052
NM_000318.3(PEX2):c.*2004C>T rs117344716 0.00048
NM_000318.3(PEX2):c.*233C>G rs190595998 0.00046
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.570C>T (p.Tyr190=) rs769765158 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.355C>T (p.Arg119Ter) rs61752123 0.00006
NM_000318.3(PEX2):c.738A>G (p.Leu246=) rs376101275 0.00006
NM_000318.3(PEX2):c.*705T>A rs569163196 0.00005
NM_000318.3(PEX2):c.642G>A (p.Gln214=) rs1201496727 0.00005
NM_000318.3(PEX2):c.798C>T (p.Phe266=) rs143661965 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.222C>T (p.Ala74=) rs370886270 0.00004
NM_000318.3(PEX2):c.404T>C (p.Val135Ala) rs549932565 0.00004
NM_000318.3(PEX2):c.621C>G (p.Leu207=) rs1364915907 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.716C>T (p.Thr239Ile) rs1264938864 0.00003
NM_000318.3(PEX2):c.174G>A (p.Ala58=) rs150987080 0.00002
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.732C>T (p.Cys244=) rs142121434 0.00002
NM_000318.3(PEX2):c.795T>C (p.Tyr265=) rs764785488 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.105C>T (p.Ser35=) rs1424842404 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.157G>T (p.Glu53Ter) rs1224562361 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.252G>A (p.Lys84=) rs1294597760 0.00001
NM_000318.3(PEX2):c.312C>G (p.Ile104Met) rs1242924229 0.00001
NM_000318.3(PEX2):c.327T>C (p.Cys109=) rs746604322 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.348A>G (p.Leu116=) rs777560932 0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NM_000318.3(PEX2):c.456T>G (p.Ile152Met) rs1475014070 0.00001
NM_000318.3(PEX2):c.45A>G (p.Leu15=) rs761947470 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.579G>A (p.Arg193=) rs1395525519 0.00001
NM_000318.3(PEX2):c.606A>G (p.Glu202=) rs376974246 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.66A>C (p.Ala22=) rs572094828 0.00001
NM_000318.3(PEX2):c.703A>G (p.Asn235Asp) rs1345316527 0.00001
NM_000318.3(PEX2):c.714C>T (p.Ala238=) rs1432397833 0.00001
NM_000318.3(PEX2):c.729A>G (p.Glu243=) rs931982876 0.00001
NM_000318.3(PEX2):c.742G>A (p.Gly248Arg) rs1277419329 0.00001
NM_000318.3(PEX2):c.768C>T (p.Thr256=) rs1806896232 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.882A>G (p.Lys294=) rs1244697838 0.00001
NM_000318.3(PEX2):c.891C>T (p.Ile297=) rs995695713 0.00001
NM_000318.3(PEX2):c.916T>C (p.Ter306Gln) rs1554584372 0.00001
NC_000008.10:g.(?_77892493)_(77912525_?)del
NC_000008.10:g.(?_77895497)_(77896414_?)del
NC_000008.10:g.(?_77895497)_(77896414_?)dup
NM_000318.3(PEX2):c.*103C>G rs529963492
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.-17-41G>T rs10957830
NM_000318.3(PEX2):c.101G>C (p.Trp34Ser)
NM_000318.3(PEX2):c.108G>A (p.Gln36=) rs113065004
NM_000318.3(PEX2):c.109T>A (p.Phe37Ile)
NM_000318.3(PEX2):c.10A>T (p.Arg4Ter) rs1297517393
NM_000318.3(PEX2):c.111T>C (p.Phe37=)
NM_000318.3(PEX2):c.113del (p.Thr38fs)
NM_000318.3(PEX2):c.114T>G (p.Thr38=) rs2132044827
NM_000318.3(PEX2):c.115C>T (p.Gln39Ter) rs61752118
NM_000318.3(PEX2):c.116A>G (p.Gln39Arg) rs1427212561
NM_000318.3(PEX2):c.118del (p.Cys40fs)
NM_000318.3(PEX2):c.120C>T (p.Cys40=) rs1586070272
NM_000318.3(PEX2):c.122T>A (p.Phe41Tyr)
NM_000318.3(PEX2):c.123T>A (p.Phe41Leu) rs2132044807
NM_000318.3(PEX2):c.123T>C (p.Phe41=)
NM_000318.3(PEX2):c.126T>C (p.His42=)
NM_000318.3(PEX2):c.12A>G (p.Arg4=)
NM_000318.3(PEX2):c.140G>A (p.Gly47Glu)
NM_000318.3(PEX2):c.142C>G (p.Leu48Val)
NM_000318.3(PEX2):c.142C>T (p.Leu48=)
NM_000318.3(PEX2):c.143T>C (p.Leu48Pro)
NM_000318.3(PEX2):c.144G>T (p.Leu48=)
NM_000318.3(PEX2):c.146del (p.Leu48_Leu49insTer) rs2132044757
NM_000318.3(PEX2):c.147A>G (p.Leu49=) rs1257241388
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.15A>G (p.Lys5=) rs2132045059
NM_000318.3(PEX2):c.15dup (p.Glu6fs)
NM_000318.3(PEX2):c.162A>C (p.Pro54=) rs2132044722
NM_000318.3(PEX2):c.162A>G (p.Pro54=) rs2132044722
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) rs61752119
NM_000318.3(PEX2):c.166G>A (p.Val56Met) rs2132044712
NM_000318.3(PEX2):c.16G>C (p.Glu6Gln)
NM_000318.3(PEX2):c.171A>G (p.Lys57=) rs2132044697
NM_000318.3(PEX2):c.174G>C (p.Ala58=) rs150987080
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)
NM_000318.3(PEX2):c.188dup (p.Trp65fs)
NM_000318.3(PEX2):c.18G>A (p.Glu6=) rs2132045054
NM_000318.3(PEX2):c.190T>A (p.Leu64Met)
NM_000318.3(PEX2):c.190T>C (p.Leu64=)
NM_000318.3(PEX2):c.192G>A (p.Leu64=)
NM_000318.3(PEX2):c.197_198del (p.Arg66fs)
NM_000318.3(PEX2):c.198A>G (p.Arg66=) rs2132044639
NM_000318.3(PEX2):c.19A>C (p.Asn7His) rs576066189
NM_000318.3(PEX2):c.201C>T (p.Phe67=)
NM_000318.3(PEX2):c.207C>A (p.Ile69=)
NM_000318.3(PEX2):c.218del (p.Asn73fs) rs1586070089
NM_000318.3(PEX2):c.21T>C (p.Asn7=)
NM_000318.3(PEX2):c.220dup (p.Ala74fs) rs777974798
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.231A>G (p.Gly77=)
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter) rs1586070043
NM_000318.3(PEX2):c.233dup (p.Ser79fs)
NM_000318.3(PEX2):c.234G>A (p.Gln78=)
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.24G>T (p.Ala8=)
NM_000318.3(PEX2):c.24_25del (p.Lys9fs) rs2132045027
NM_000318.3(PEX2):c.253dup (p.Tyr85fs)
NM_000318.3(PEX2):c.260del (p.Asn87fs)
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.272dup (p.Pro91_Asn92insTer)
NM_000318.3(PEX2):c.275A>C (p.Asn92Thr) rs2132044452
NM_000318.3(PEX2):c.278T>C (p.Leu93Pro)
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) rs61752122
NM_000318.3(PEX2):c.280A>G (p.Arg94Gly)
NM_000318.3(PEX2):c.285T>C (p.Tyr95=) rs202204148
NM_000318.3(PEX2):c.285T>G (p.Tyr95Ter)
NM_000318.3(PEX2):c.286C>T (p.Gln96Ter) rs2132044384
NM_000318.3(PEX2):c.298A>G (p.Lys100Glu)
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter) rs200065382
NM_000318.3(PEX2):c.310del (p.Ile104fs)
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000318.3(PEX2):c.312C>A (p.Ile104=) rs1242924229
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)
NM_000318.3(PEX2):c.318T>A (p.Tyr106Ter)
NM_000318.3(PEX2):c.320C>A (p.Ala107Asp)
NM_000318.3(PEX2):c.320C>T (p.Ala107Val) rs2132044318
NM_000318.3(PEX2):c.320_326del (p.Ala107fs)
NM_000318.3(PEX2):c.324T>A (p.Val108=)
NM_000318.3(PEX2):c.325dup (p.Cys109fs) rs1052655986
NM_000318.3(PEX2):c.32C>A (p.Ala11Glu)
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.342G>A (p.Arg114=) rs778787558
NM_000318.3(PEX2):c.344G>C (p.Trp115Ser)
NM_000318.3(PEX2):c.349GAA[1] (p.Glu118del) rs1554584507
NM_000318.3(PEX2):c.34_37del (p.Asn12fs) rs1174648906
NM_000318.3(PEX2):c.351A>G (p.Glu117=) rs2132044225
NM_000318.3(PEX2):c.352del (p.Glu118fs)
NM_000318.3(PEX2):c.354_355del (p.Arg119fs) rs1554584505
NM_000318.3(PEX2):c.356G>A (p.Arg119Gln)
NM_000318.3(PEX2):c.357A>C (p.Arg119=) rs767740481
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.369G>A (p.Leu123=)
NM_000318.3(PEX2):c.369del (p.Leu123fs)
NM_000318.3(PEX2):c.373C>A (p.Arg125=) rs61752124
NM_000318.3(PEX2):c.373C>G (p.Arg125Gly)
NM_000318.3(PEX2):c.375A>G (p.Arg125=)
NM_000318.3(PEX2):c.377A>G (p.Asn126Ser) rs2132044121
NM_000318.3(PEX2):c.381T>C (p.His127=) rs1806915769
NM_000318.3(PEX2):c.384T>C (p.His128=)
NM_000318.3(PEX2):c.386T>A (p.Leu129Ter) rs1224224276
NM_000318.3(PEX2):c.387_396dup (p.Gly133fs) rs2132044079
NM_000318.3(PEX2):c.393A>G (p.Ser131=) rs1407170162
NM_000318.3(PEX2):c.395_396del (p.Phe132fs)
NM_000318.3(PEX2):c.399G>A (p.Gly133=) rs760342808
NM_000318.3(PEX2):c.39_40del (p.Arg13fs)
NM_000318.3(PEX2):c.402A>G (p.Lys134=) rs953517125
NM_000318.3(PEX2):c.405C>A (p.Val135=)
NM_000318.3(PEX2):c.410A>G (p.Gln137Arg)
NM_000318.3(PEX2):c.412T>A (p.Cys138Ser) rs2132044038
NM_000318.3(PEX2):c.414_426dup (p.Ile143fs)
NM_000318.3(PEX2):c.415G>T (p.Val139Leu) rs1806914302
NM_000318.3(PEX2):c.416_417del (p.Val139fs) rs2132044032
NM_000318.3(PEX2):c.429T>A (p.Ile143=)
NM_000318.3(PEX2):c.429T>G (p.Ile143Met)
NM_000318.3(PEX2):c.436T>C (p.Leu146=) rs2132044010
NM_000318.3(PEX2):c.437T>C (p.Leu146Ser)
NM_000318.3(PEX2):c.43C>T (p.Leu15=)
NM_000318.3(PEX2):c.44T>C (p.Leu15Pro)
NM_000318.3(PEX2):c.450G>T (p.Gly150=) rs2132043975
NM_000318.3(PEX2):c.452T>C (p.Leu151Pro) rs2132043971
NM_000318.3(PEX2):c.453G>A (p.Leu151=)
NM_000318.3(PEX2):c.455_456insG (p.Ile152fs) rs2132043966
NM_000318.3(PEX2):c.45A>C (p.Leu15=)
NM_000318.3(PEX2):c.465G>A (p.Leu155=)
NM_000318.3(PEX2):c.470del (p.Phe157fs)
NM_000318.3(PEX2):c.472del (p.Leu158fs) rs1554584487
NM_000318.3(PEX2):c.475C>T (p.Gln159Ter)
NM_000318.3(PEX2):c.483A>G (p.Gly161=) rs2132043885
NM_000318.3(PEX2):c.488T>G (p.Phe163Cys)
NM_000318.3(PEX2):c.489T>C (p.Phe163=)
NM_000318.3(PEX2):c.494C>A (p.Thr165Asn)
NM_000318.3(PEX2):c.495T>A (p.Thr165=)
NM_000318.3(PEX2):c.495T>C (p.Thr165=)
NM_000318.3(PEX2):c.497T>A (p.Leu166Ter) rs1586069639
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.502G>T (p.Glu168Ter)
NM_000318.3(PEX2):c.502_503del (p.Glu168fs) rs1554584474
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.507T>A (p.Arg169=)
NM_000318.3(PEX2):c.511C>T (p.Leu171=)
NM_000318.3(PEX2):c.513A>G (p.Leu171=) rs2132043808
NM_000318.3(PEX2):c.521_524del (p.His174fs)
NM_000318.3(PEX2):c.524del (p.Ser175fs) rs2132043781
NM_000318.3(PEX2):c.526G>A (p.Val176Ile)
NM_000318.3(PEX2):c.549_550del (p.Ile183fs) rs756891007
NM_000318.3(PEX2):c.54C>A (p.Ser18Arg) rs545785018
NM_000318.3(PEX2):c.54C>T (p.Ser18=) rs545785018
NM_000318.3(PEX2):c.550_551delinsCT (p.Cys184Leu) rs2132043720
NM_000318.3(PEX2):c.550_551insC (p.Cys184fs) rs2132043724
NM_000318.3(PEX2):c.550del (p.Cys184fs) rs63545361
NM_000318.3(PEX2):c.550delinsCC (p.Cys184fs)
NM_000318.3(PEX2):c.555A>G (p.Glu185=)
NM_000318.3(PEX2):c.567A>G (p.Glu189=)
NM_000318.3(PEX2):c.571A>C (p.Met191Leu) rs747946744
NM_000318.3(PEX2):c.571del (p.Tyr190_Met191insTer) rs2132043667
NM_000318.3(PEX2):c.573G>C (p.Met191Ile) rs2132043654
NM_000318.3(PEX2):c.575A>G (p.Asn192Ser)
NM_000318.3(PEX2):c.57G>A (p.Gln19=) rs2132044973
NM_000318.3(PEX2):c.584T>C (p.Leu195Pro)
NM_000318.3(PEX2):c.585T>C (p.Leu195=)
NM_000318.3(PEX2):c.594T>C (p.His198=)
NM_000318.3(PEX2):c.5C>A (p.Ala2Asp)
NM_000318.3(PEX2):c.600T>C (p.Phe200=)
NM_000318.3(PEX2):c.601G>A (p.Ala201Thr)
NM_000318.3(PEX2):c.603T>C (p.Ala201=)
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.610_611del (p.Leu204fs)
NM_000318.3(PEX2):c.614T>G (p.Ile205Ser)
NM_000318.3(PEX2):c.618del (p.Leu207fs) rs2132043567
NM_000318.3(PEX2):c.619C>G (p.Leu207Val) rs143986865
NM_000318.3(PEX2):c.621C>T (p.Leu207=)
NM_000318.3(PEX2):c.627A>G (p.Pro209=)
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.639C>T (p.Val213=)
NM_000318.3(PEX2):c.63T>C (p.Asp21=)
NM_000318.3(PEX2):c.657G>A (p.Lys219=)
NM_000318.3(PEX2):c.657G>C (p.Lys219Asn) rs1806902121
NM_000318.3(PEX2):c.661_676dup (p.Pro226fs)
NM_000318.3(PEX2):c.669G>A (p.Trp223Ter) rs61752127
NM_000318.3(PEX2):c.671G>A (p.Cys224Tyr)
NM_000318.3(PEX2):c.673A>G (p.Ile225Val)
NM_000318.3(PEX2):c.678T>C (p.Pro226=) rs2132043403
NM_000318.3(PEX2):c.681T>C (p.Leu227=)
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.693T>A (p.Pro231=)
NM_000318.3(PEX2):c.693T>C (p.Pro231=)
NM_000318.3(PEX2):c.693T>G (p.Pro231=)
NM_000318.3(PEX2):c.694A>G (p.Asn232Asp) rs1806899956
NM_000318.3(PEX2):c.69T>G (p.Leu23=)
NM_000318.3(PEX2):c.6T>C (p.Ala2=)
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla) rs1554584423
NM_000318.3(PEX2):c.708A>C (p.Thr236=)
NM_000318.3(PEX2):c.708A>G (p.Thr236=)
NM_000318.3(PEX2):c.715A>T (p.Thr239Ser)
NM_000318.3(PEX2):c.717C>T (p.Thr239=) rs2132043284
NM_000318.3(PEX2):c.718A>C (p.Ser240Arg)
NM_000318.3(PEX2):c.720T>C (p.Ser240=) rs914631161
NM_000318.3(PEX2):c.726A>G (p.Lys242=) rs2132043260
NM_000318.3(PEX2):c.72A>G (p.Glu24=) rs750660448
NM_000318.3(PEX2):c.733G>C (p.Ala245Pro) rs112108739
NM_000318.3(PEX2):c.735T>C (p.Ala245=)
NM_000318.3(PEX2):c.736C>G (p.Leu246Val) rs757764014
NM_000318.3(PEX2):c.737T>C (p.Leu246Pro)
NM_000318.3(PEX2):c.738A>T (p.Leu246=) rs376101275
NM_000318.3(PEX2):c.739T>C (p.Cys247Arg) rs61752128
NM_000318.3(PEX2):c.73C>T (p.Leu25=) rs1586070356
NM_000318.3(PEX2):c.752C>G (p.Pro251Arg)
NM_000318.3(PEX2):c.752C>T (p.Pro251Leu)
NM_000318.3(PEX2):c.756C>T (p.Thr252=)
NM_000318.3(PEX2):c.757A>G (p.Met253Val)
NM_000318.3(PEX2):c.75A>G (p.Leu25=) rs2132044926
NM_000318.3(PEX2):c.765C>T (p.His255=) rs2132043163
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.771A>T (p.Ile257=) rs1586069200
NM_000318.3(PEX2):c.773G>A (p.Gly258Glu) rs1428046580
NM_000318.3(PEX2):c.77_79delinsTT (p.Asn26fs)
NM_000318.3(PEX2):c.783T>C (p.His261=) rs1586069185
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.791_795del (p.Cys264fs)
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.79_80del (p.Lys27fs) rs1261498405
NM_000318.3(PEX2):c.807_808insT (p.Ser270Ter)
NM_000318.3(PEX2):c.809G>C (p.Ser270Thr)
NM_000318.3(PEX2):c.825C>T (p.Asp275=) rs367649632
NM_000318.3(PEX2):c.828G>A (p.Val276=)
NM_000318.3(PEX2):c.82G>A (p.Ala28Thr)
NM_000318.3(PEX2):c.830A>G (p.Tyr277Cys)
NM_000318.3(PEX2):c.831C>T (p.Tyr277=)
NM_000318.3(PEX2):c.831delinsGTTTCTTA (p.Tyr277Ter)
NM_000318.3(PEX2):c.834T>C (p.Phe278=)
NM_000318.3(PEX2):c.834_838del (p.Phe278fs) rs267608188
NM_000318.3(PEX2):c.843T>C (p.Pro281=)
NM_000318.3(PEX2):c.852C>T (p.Gly284=) rs2132042925
NM_000318.3(PEX2):c.854C>G (p.Thr285Arg)
NM_000318.3(PEX2):c.855A>G (p.Thr285=) rs1806891966
NM_000318.3(PEX2):c.857_859del (p.Glu286del) rs1460738027
NM_000318.3(PEX2):c.858A>G (p.Glu286=)
NM_000318.3(PEX2):c.85C>T (p.Leu29=) rs1277480138
NM_000318.3(PEX2):c.864C>T (p.His288=)
NM_000318.3(PEX2):c.865dup (p.Ser289fs) rs724160029
NM_000318.3(PEX2):c.866G>A (p.Ser289Asn)
NM_000318.3(PEX2):c.868C>T (p.Leu290=) rs2132042893
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.885A>G (p.Ser295=) rs886332712
NM_000318.3(PEX2):c.891C>G (p.Ile297Met)
NM_000318.3(PEX2):c.897G>A (p.Met299Ile) rs1806890153
NM_000318.3(PEX2):c.90G>A (p.Glu30=) rs777639216
NM_000318.3(PEX2):c.911C>T (p.Ala304Val)
NM_000318.3(PEX2):c.912T>C (p.Ala304=) rs1034467919
NM_000318.3(PEX2):c.915T>A (p.Leu305=) rs1806889622
NM_000318.3(PEX2):c.91C>T (p.Gln31Ter) rs149287302
NM_000318.3(PEX2):c.92A>C (p.Gln31Pro) rs1806931527
NM_000318.3(PEX2):c.94C>T (p.Leu32=)
NM_000318.3(PEX2):c.96A>G (p.Leu32=) rs754405926

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