ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 9B

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ClinVar version:
Total variants: 545
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HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.340-71G>A rs927181 0.98050
NM_000288.4(PEX7):c.*306T>G rs1050803 0.51106
NM_000288.4(PEX7):c.130+48_130+53dup rs11283064 0.50803
NM_000288.4(PEX7):c.-56C>T rs73777751 0.11791
NM_000288.4(PEX7):c.340-103A>G rs2295592 0.10001
NM_000288.4(PEX7):c.803+105A>C rs72985582 0.04283
NM_000288.4(PEX7):c.-31G>A rs115866467 0.02411
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_000288.4(PEX7):c.526+14T>C rs73777756 0.00279
NM_000288.4(PEX7):c.*38G>A rs41288965 0.00188
NM_000288.4(PEX7):c.*272A>G rs186705952 0.00145
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_000288.4(PEX7):c.130+11G>A rs886061119 0.00079
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_000288.4(PEX7):c.418-4G>T rs199552223 0.00054
NM_000288.4(PEX7):c.128C>T (p.Ala43Val) rs780369944 0.00052
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000288.4(PEX7):c.748-16C>T rs200965122 0.00042
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118 0.00032
NM_000288.4(PEX7):c.188+3A>G rs200234391 0.00019
NM_000288.4(PEX7):c.28C>T (p.Arg10Trp) rs1321528623 0.00012
NM_000288.4(PEX7):c.44C>T (p.Pro15Leu) rs925593750 0.00011
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_000288.4(PEX7):c.526+19A>G rs760557944 0.00010
NM_000288.4(PEX7):c.315A>T (p.Gln105His) rs767901695 0.00007
NM_000288.4(PEX7):c.*115A>G rs41288967 0.00006
NM_000288.4(PEX7):c.126C>T (p.Ile42=) rs1464741803 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000288.4(PEX7):c.418-3T>C rs770117560 0.00006
NM_000288.4(PEX7):c.237C>T (p.Asn79=) rs752745963 0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000288.4(PEX7):c.171G>C (p.Gly57=) rs750791932 0.00004
NM_000288.4(PEX7):c.203A>T (p.Asp68Val) rs763388501 0.00004
NM_000288.4(PEX7):c.418-18C>G rs747545013 0.00004
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn) rs1554331549 0.00004
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245 0.00004
NM_000288.4(PEX7):c.630T>C (p.Asn210=) rs1466368201 0.00004
NM_000288.4(PEX7):c.65C>T (p.Ala22Val) rs1052621653 0.00004
NM_000288.4(PEX7):c.77C>T (p.Pro26Leu) rs1003031615 0.00004
NM_000288.4(PEX7):c.804-5C>T rs369653173 0.00004
NM_000288.4(PEX7):c.886C>T (p.Leu296Phe) rs760967879 0.00004
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys) rs201106072 0.00004
NM_000288.4(PEX7):c.*223T>A rs774681133 0.00003
NM_000288.4(PEX7):c.116A>C (p.His39Pro) rs61753237 0.00003
NM_000288.4(PEX7):c.340-8G>A rs528317074 0.00003
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851 0.00003
NM_000288.4(PEX7):c.648C>T (p.Thr216=) rs754226264 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000288.4(PEX7):c.730G>A (p.Ala244Thr) rs375091907 0.00003
NM_000288.4(PEX7):c.803+5A>G rs759078908 0.00003
NM_000288.4(PEX7):c.804-19C>T rs768001113 0.00003
NM_000288.4(PEX7):c.867T>C (p.Thr289=) rs936175997 0.00003
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291 0.00003
NM_000288.4(PEX7):c.903+13A>G rs780555523 0.00003
NM_000288.4(PEX7):c.903+8A>G rs779919482 0.00003
NM_000288.4(PEX7):c.111G>A (p.Ala37=) rs1434570255 0.00002
NM_000288.4(PEX7):c.159A>G (p.Pro53=) rs767077870 0.00002
NM_000288.4(PEX7):c.243T>C (p.His81=) rs749192451 0.00002
NM_000288.4(PEX7):c.244G>A (p.Val82Ile) rs770777194 0.00002
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg) rs762113236 0.00002
NM_000288.4(PEX7):c.629A>G (p.Asn210Ser) rs753193218 0.00002
NM_000288.4(PEX7):c.685A>C (p.Arg229=) rs772891476 0.00002
NM_000288.4(PEX7):c.748-9T>C rs777611969 0.00002
NM_000288.4(PEX7):c.769G>A (p.Val257Met) rs771916687 0.00002
NM_000288.4(PEX7):c.786G>A (p.Ser262=) rs751419048 0.00002
NM_000288.4(PEX7):c.950C>T (p.Ala317Val) rs541306617 0.00002
NM_000288.4(PEX7):c.971G>A (p.Ter324=) rs374574552 0.00002
NM_000288.4(PEX7):c.-28G>A rs376808803 0.00001
NM_000288.4(PEX7):c.115C>A (p.His39Asn) rs1316023843 0.00001
NM_000288.4(PEX7):c.129G>C (p.Ala43=) rs1256466654 0.00001
NM_000288.4(PEX7):c.130+1G>A rs267608253 0.00001
NM_000288.4(PEX7):c.130+6G>C rs1299374519 0.00001
NM_000288.4(PEX7):c.131-8C>T rs765917993 0.00001
NM_000288.4(PEX7):c.144A>G (p.Leu48=) rs1409718476 0.00001
NM_000288.4(PEX7):c.167C>G (p.Ala56Gly) rs765902458 0.00001
NM_000288.4(PEX7):c.168T>A (p.Ala56=) rs1159376627 0.00001
NM_000288.4(PEX7):c.17G>C (p.Gly6Ala) rs1774097181 0.00001
NM_000288.4(PEX7):c.188+1G>C rs267608254 0.00001
NM_000288.4(PEX7):c.189-17G>A rs775125126 0.00001
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn) rs1229970963 0.00001
NM_000288.4(PEX7):c.240A>G (p.Glu80=) rs777854575 0.00001
NM_000288.4(PEX7):c.258T>C (p.Cys86=) rs1220745269 0.00001
NM_000288.4(PEX7):c.264C>T (p.Gly88=) rs775319689 0.00001
NM_000288.4(PEX7):c.290C>G (p.Thr97Ser) rs1391235393 0.00001
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg) rs367806635 0.00001
NM_000288.4(PEX7):c.297A>G (p.Lys99=) rs766858149 0.00001
NM_000288.4(PEX7):c.309A>G (p.Pro103=) rs1285377553 0.00001
NM_000288.4(PEX7):c.30G>A (p.Arg10=) rs1330254343 0.00001
NM_000288.4(PEX7):c.324A>G (p.Lys108=) rs1330909297 0.00001
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154 0.00001
NM_000288.4(PEX7):c.347G>T (p.Ser116Ile) rs1181412133 0.00001
NM_000288.4(PEX7):c.34C>T (p.Leu12=) rs1325714867 0.00001
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys) rs769137963 0.00001
NM_000288.4(PEX7):c.387G>T (p.Val129=) rs772635570 0.00001
NM_000288.4(PEX7):c.393C>T (p.Gly131=) rs761074779 0.00001
NM_000288.4(PEX7):c.417+9G>A rs766476163 0.00001
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248 0.00001
NM_000288.4(PEX7):c.42G>A (p.Thr14=) rs1253900568 0.00001
NM_000288.4(PEX7):c.442C>G (p.Leu148Val) rs752606372 0.00001
NM_000288.4(PEX7):c.447C>T (p.Cys149=) rs755710614 0.00001
NM_000288.4(PEX7):c.450C>T (p.Thr150=) rs1774593832 0.00001
NM_000288.4(PEX7):c.496C>T (p.His166Tyr) rs1219430310 0.00001
NM_000288.4(PEX7):c.525A>G (p.Ser175=) rs771080595 0.00001
NM_000288.4(PEX7):c.527-12C>G rs1290336763 0.00001
NM_000288.4(PEX7):c.534G>C (p.Gln178His) rs746010906 0.00001
NM_000288.4(PEX7):c.554T>C (p.Val185Ala) rs1424846175 0.00001
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) rs764924345 0.00001
NM_000288.4(PEX7):c.611G>A (p.Cys204Tyr) rs368435862 0.00001
NM_000288.4(PEX7):c.634-7T>C rs367566981 0.00001
NM_000288.4(PEX7):c.63C>T (p.Ala21=) rs935581914 0.00001
NM_000288.4(PEX7):c.681C>T (p.Asp227=) rs1236779327 0.00001
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu) rs759158962 0.00001
NM_000288.4(PEX7):c.726C>T (p.Thr242=) rs762238818 0.00001
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys) rs780186421 0.00001
NM_000288.4(PEX7):c.748-10T>C rs886061122 0.00001
NM_000288.4(PEX7):c.748-14T>A rs1362218138 0.00001
NM_000288.4(PEX7):c.748-17T>C rs1562746798 0.00001
NM_000288.4(PEX7):c.782G>A (p.Cys261Tyr) rs770301248 0.00001
NM_000288.4(PEX7):c.785C>T (p.Ser262Leu) rs62653610 0.00001
NM_000288.4(PEX7):c.78G>A (p.Pro26=) rs1774100373 0.00001
NM_000288.4(PEX7):c.798T>C (p.Thr266=) rs1173582316 0.00001
NM_000288.4(PEX7):c.803+4C>G rs759745913 0.00001
NM_000288.4(PEX7):c.804-2A>C rs774676095 0.00001
NM_000288.4(PEX7):c.82C>T (p.Leu28=) rs754348931 0.00001
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764 0.00001
NM_000288.4(PEX7):c.854A>G (p.His285Arg) rs62653611 0.00001
NM_000288.4(PEX7):c.903+10A>G rs747530925 0.00001
NM_000288.4(PEX7):c.903+6G>A rs758226348 0.00001
NM_000288.4(PEX7):c.946C>T (p.Pro316Ser) rs746310299 0.00001
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) rs879706210 0.00001
NM_000288.4(PEX7):c.96G>A (p.Leu32=) rs1397119638 0.00001
NM_000288.4(PEX7):c.9G>C (p.Ala3=) rs1475959844 0.00001
NC_000006.11:g.(?_137143759)_(137143943_?)del
NC_000006.11:g.(?_137143759)_(137143953_?)dup
NC_000006.11:g.(?_137143759)_(137166840_?)del
NC_000006.11:g.(?_137143759)_(137167329_?)del
NC_000006.11:g.(?_137143759)_(137167339_?)dup
NC_000006.11:g.(?_137166743)_(137167329_?)del
NC_000006.11:g.(?_137167201)_(137234674_?)del
NC_000006.11:g.(?_137187755)_(137193401_?)del
NC_000006.11:g.(?_137187765)_(137191141_?)dup
NC_000006.11:g.(?_137191125)_(137199715_?)del
NC_000006.12:g.(?_136821564)_(136914934_?)dup
NM_000288.4(PEX7):c.*124A>G rs112796869
NM_000288.4(PEX7):c.*305C>A rs567568009
NM_000288.4(PEX7):c.*305C>T rs567568009
NM_000288.4(PEX7):c.*367T>C rs886061124
NM_000288.4(PEX7):c.-18C>T rs991168664
NM_000288.4(PEX7):c.-35G>A rs886061116
NM_000288.4(PEX7):c.-3G>A rs886061117
NM_000288.4(PEX7):c.-65A>T rs190537612
NM_000288.4(PEX7):c.-69C>A rs528948146
NM_000288.4(PEX7):c.-95T>C rs1321471
NM_000288.4(PEX7):c.100T>G (p.Cys34Gly) rs1774101933
NM_000288.4(PEX7):c.105C>T (p.Ala35=)
NM_000288.4(PEX7):c.105_117del (p.Gln38fs)
NM_000288.4(PEX7):c.107C>T (p.Thr36Ile)
NM_000288.4(PEX7):c.108C>G (p.Thr36=)
NM_000288.4(PEX7):c.10del (p.Val4fs)
NM_000288.4(PEX7):c.111_112del (p.Gln38fs)
NM_000288.4(PEX7):c.112C>T (p.Gln38Ter) rs1774102216
NM_000288.4(PEX7):c.113A>G (p.Gln38Arg)
NM_000288.4(PEX7):c.116A>G (p.His39Arg) rs61753237
NM_000288.4(PEX7):c.117C>G (p.His39Gln)
NM_000288.4(PEX7):c.117C>T (p.His39=) rs779353296
NM_000288.4(PEX7):c.120C>T (p.Tyr40=) rs61753238
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg) rs1210968366
NM_000288.4(PEX7):c.121G>T (p.Gly41Cys)
NM_000288.4(PEX7):c.122G>A (p.Gly41Asp) rs61753239
NM_000288.4(PEX7):c.123C>A (p.Gly41=)
NM_000288.4(PEX7):c.12G>A (p.Val4=) rs2115122241
NM_000288.4(PEX7):c.12del (p.Cys5fs)
NM_000288.4(PEX7):c.130+10C>A rs794726882
NM_000288.4(PEX7):c.130+10CGC[3]
NM_000288.4(PEX7):c.130+10_130+36dup
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+12C>T
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.130+13C>G
NM_000288.4(PEX7):c.130+13C>T
NM_000288.4(PEX7):c.130+15C>T
NM_000288.4(PEX7):c.130+16G>C
NM_000288.4(PEX7):c.130+16G>T
NM_000288.4(PEX7):c.130+20C>T
NM_000288.4(PEX7):c.130+2T>G rs2115122957
NM_000288.4(PEX7):c.130+3G>A
NM_000288.4(PEX7):c.130+5G>A
NM_000288.4(PEX7):c.130+7C>G
NM_000288.4(PEX7):c.130+7C>T
NM_000288.4(PEX7):c.130+8G>A
NM_000288.4(PEX7):c.130+8G>C rs1222036777
NM_000288.4(PEX7):c.130+9G>A rs1184848577
NM_000288.4(PEX7):c.130+9G>C rs1184848577
NM_000288.4(PEX7):c.131-10T>C rs2115129012
NM_000288.4(PEX7):c.131-13T>A rs1256206160
NM_000288.4(PEX7):c.131-16T>C
NM_000288.4(PEX7):c.131-1G>A rs2115129048
NM_000288.4(PEX7):c.131-4_131-3del rs768349731
NM_000288.4(PEX7):c.131-6C>G rs2115129034
NM_000288.4(PEX7):c.131-7T>A rs2115129029
NM_000288.4(PEX7):c.131-8C>G rs765917993
NM_000288.4(PEX7):c.131-9del rs760985736
NM_000288.4(PEX7):c.131-9dup
NM_000288.4(PEX7):c.134G>A (p.Cys45Tyr) rs2115129058
NM_000288.4(PEX7):c.136_137delinsCT (p.Gly46Leu) rs2115129066
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.151T>C (p.Leu51=)
NM_000288.4(PEX7):c.15C>T (p.Cys5=)
NM_000288.4(PEX7):c.168T>C (p.Ala56=)
NM_000288.4(PEX7):c.171G>T (p.Gly57=) rs750791932
NM_000288.4(PEX7):c.172C>T (p.Leu58=)
NM_000288.4(PEX7):c.175A>C (p.Arg59=)
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.184A>G (p.Arg62Gly)
NM_000288.4(PEX7):c.188+1G>A rs267608254
NM_000288.4(PEX7):c.188+2del
NM_000288.4(PEX7):c.188+8G>A
NM_000288.4(PEX7):c.189-10C>T
NM_000288.4(PEX7):c.189-16T>A
NM_000288.4(PEX7):c.189-20T>C
NM_000288.4(PEX7):c.189-4G>A
NM_000288.4(PEX7):c.189-7A>G rs2115131688
NM_000288.4(PEX7):c.189-8T>A rs2115131680
NM_000288.4(PEX7):c.189-9C>T
NM_000288.4(PEX7):c.18T>G (p.Gly6=)
NM_000288.4(PEX7):c.195C>G (p.Asp65Glu) rs2115131716
NM_000288.4(PEX7):c.201T>C (p.Asn67=)
NM_000288.4(PEX7):c.208T>C (p.Leu70=)
NM_000288.4(PEX7):c.20G>A (p.Gly7Glu)
NM_000288.4(PEX7):c.212T>C (p.Phe71Ser) rs902252309
NM_000288.4(PEX7):c.213del (p.Phe71fs) rs1190462422
NM_000288.4(PEX7):c.216T>C (p.Asp72=) rs1582732837
NM_000288.4(PEX7):c.21A>G (p.Gly7=)
NM_000288.4(PEX7):c.224G>A (p.Trp75Ter)
NM_000288.4(PEX7):c.22G>C (p.Ala8Pro)
NM_000288.4(PEX7):c.22_31del (p.Ala8fs)
NM_000288.4(PEX7):c.234C>A (p.Asn78Lys) rs560350898
NM_000288.4(PEX7):c.238G>A (p.Glu80Lys)
NM_000288.4(PEX7):c.23C>A (p.Ala8Glu) rs1306941707
NM_000288.4(PEX7):c.246C>T (p.Val82=)
NM_000288.4(PEX7):c.24G>A (p.Ala8=)
NM_000288.4(PEX7):c.24G>C (p.Ala8=) rs978818225
NM_000288.4(PEX7):c.24G>T (p.Ala8=) rs978818225
NM_000288.4(PEX7):c.250dup (p.Ile84fs)
NM_000288.4(PEX7):c.255C>G (p.Thr85=)
NM_000288.4(PEX7):c.255C>T (p.Thr85=)
NM_000288.4(PEX7):c.257G>A (p.Cys86Tyr) rs61753240
NM_000288.4(PEX7):c.257G>T (p.Cys86Phe)
NM_000288.4(PEX7):c.261T>C (p.Ser87=)
NM_000288.4(PEX7):c.264C>A (p.Gly88=)
NM_000288.4(PEX7):c.26C>A (p.Ala9Glu) rs1774097710
NM_000288.4(PEX7):c.26C>T (p.Ala9Val)
NM_000288.4(PEX7):c.273G>A (p.Ser91=) rs532273900
NM_000288.4(PEX7):c.273G>C (p.Ser91=) rs532273900
NM_000288.4(PEX7):c.275T>C (p.Leu92Pro)
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.278A>G (p.Gln93Arg)
NM_000288.4(PEX7):c.279G>A (p.Gln93=)
NM_000288.4(PEX7):c.27G>A (p.Ala9=) rs2115122332
NM_000288.4(PEX7):c.27G>C (p.Ala9=)
NM_000288.4(PEX7):c.284G>A (p.Trp95Ter)
NM_000288.4(PEX7):c.286G>A (p.Asp96Asn) rs1412257014
NM_000288.4(PEX7):c.289_290del (p.Thr97fs)
NM_000288.4(PEX7):c.294_313dup (p.Gln105fs)
NM_000288.4(PEX7):c.300T>C (p.Ala100=) rs2115132127
NM_000288.4(PEX7):c.310C>T (p.Leu104=) rs2115132172
NM_000288.4(PEX7):c.313C>A (p.Gln105Lys)
NM_000288.4(PEX7):c.313C>G (p.Gln105Glu)
NM_000288.4(PEX7):c.315A>G (p.Gln105=) rs767901695
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
NM_000288.4(PEX7):c.319T>A (p.Tyr107Asn)
NM_000288.4(PEX7):c.31_56dup (p.Tyr20fs)
NM_000288.4(PEX7):c.320A>G (p.Tyr107Cys)
NM_000288.4(PEX7):c.322A>G (p.Lys108Glu) rs760182861
NM_000288.4(PEX7):c.327A>G (p.Glu109=)
NM_000288.4(PEX7):c.330C>G (p.His110Gln) rs199648976
NM_000288.4(PEX7):c.330C>T (p.His110=) rs199648976
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr) rs368225510
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter) rs62653604
NM_000288.4(PEX7):c.335A>G (p.Gln112Arg)
NM_000288.4(PEX7):c.336G>A (p.Gln112=)
NM_000288.4(PEX7):c.339+10A>C rs374668045
NM_000288.4(PEX7):c.339+14C>A
NM_000288.4(PEX7):c.339+15T>A
NM_000288.4(PEX7):c.339+17T>C
NM_000288.4(PEX7):c.339+19T>C rs2115132321
NM_000288.4(PEX7):c.339+20G>A
NM_000288.4(PEX7):c.339+9G>C
NM_000288.4(PEX7):c.340-12C>A
NM_000288.4(PEX7):c.340-14T>C
NM_000288.4(PEX7):c.340-1G>T rs780751870
NM_000288.4(PEX7):c.340-9T>C
NM_000288.4(PEX7):c.346A>G (p.Ser116Gly)
NM_000288.4(PEX7):c.346_348del (p.Ser116del) rs1774581899
NM_000288.4(PEX7):c.35_43dup (p.Thr14_Pro15insLeuArgThr)
NM_000288.4(PEX7):c.361C>T (p.Gln121Ter)
NM_000288.4(PEX7):c.363_526+230del rs1582744649
NM_000288.4(PEX7):c.364del (p.Thr122fs) rs2115170460
NM_000288.4(PEX7):c.370_396del (p.Gly124_Ser132del)
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter) rs2115170536
NM_000288.4(PEX7):c.382G>A (p.Val128Met)
NM_000288.4(PEX7):c.382G>C (p.Val128Leu)
NM_000288.4(PEX7):c.385G>A (p.Val129Met) rs746310218
NM_000288.4(PEX7):c.387G>A (p.Val129=)
NM_000288.4(PEX7):c.38G>A (p.Arg13Gln) rs1220044805
NM_000288.4(PEX7):c.396A>G (p.Ser132=) rs1774583856
NM_000288.4(PEX7):c.39G>A (p.Arg13=)
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn) rs764346452
NM_000288.4(PEX7):c.408T>C (p.Thr136=) rs776675774
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.411C>G (p.Val137=)
NM_000288.4(PEX7):c.417+19A>G
NM_000288.4(PEX7):c.417+7T>C rs2115170673
NM_000288.4(PEX7):c.417+8A>G rs1162725998
NM_000288.4(PEX7):c.418-10T>C rs2115171417
NM_000288.4(PEX7):c.418-15T>A
NM_000288.4(PEX7):c.418-16A>C
NM_000288.4(PEX7):c.418-18C>T
NM_000288.4(PEX7):c.418-1G>C rs773406384
NM_000288.4(PEX7):c.418-4G>A rs199552223
NM_000288.4(PEX7):c.419G>T (p.Trp140Leu)
NM_000288.4(PEX7):c.41C>T (p.Thr14Met)
NM_000288.4(PEX7):c.423T>A (p.Asp141Glu)
NM_000288.4(PEX7):c.429T>G (p.Thr143=)
NM_000288.4(PEX7):c.444G>A (p.Leu148=) rs2115171520
NM_000288.4(PEX7):c.449C>G (p.Thr150Ser)
NM_000288.4(PEX7):c.457G>A (p.Gly153Ser)
NM_000288.4(PEX7):c.459C>G (p.Gly153=)
NM_000288.4(PEX7):c.45_52del (p.Gly16fs)
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000288.4(PEX7):c.462T>C (p.His154=) rs753312829
NM_000288.4(PEX7):c.465A>G (p.Glu155=) rs1582745048
NM_000288.4(PEX7):c.468_471dup (p.Ile158fs)
NM_000288.4(PEX7):c.46G>C (p.Gly16Arg) rs1774098770
NM_000288.4(PEX7):c.474_477del (p.Tyr159fs) rs2115171634
NM_000288.4(PEX7):c.477T>C (p.Tyr159=)
NM_000288.4(PEX7):c.480C>T (p.Ser160=) rs2115171668
NM_000288.4(PEX7):c.484A>G (p.Ile162Val)
NM_000288.4(PEX7):c.486C>T (p.Ile162=)
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter) rs1173171051
NM_000288.4(PEX7):c.489G>T (p.Trp163Cys)
NM_000288.4(PEX7):c.48A>G (p.Gly16=)
NM_000288.4(PEX7):c.492T>G (p.Ser164=)
NM_000288.4(PEX7):c.494C>A (p.Pro165His)
NM_000288.4(PEX7):c.495C>G (p.Pro165=) rs2115171713
NM_000288.4(PEX7):c.498C>T (p.His166=)
NM_000288.4(PEX7):c.49_70dup (p.Phe24fs) rs1774099032
NM_000288.4(PEX7):c.504T>C (p.Pro168=) rs770113657
NM_000288.4(PEX7):c.506GTT[1] (p.Cys170del)
NM_000288.4(PEX7):c.507T>C (p.Gly169=)
NM_000288.4(PEX7):c.508T>C (p.Cys170Arg)
NM_000288.4(PEX7):c.508T>G (p.Cys170Gly)
NM_000288.4(PEX7):c.508del (p.Cys170fs) rs1057516827
NM_000288.4(PEX7):c.513T>C (p.Phe171=) rs2115171775
NM_000288.4(PEX7):c.513del (p.Phe171fs)
NM_000288.4(PEX7):c.514G>C (p.Ala172Pro) rs1562734989
NM_000288.4(PEX7):c.516T>C (p.Ala172=) rs2115171786
NM_000288.4(PEX7):c.516T>G (p.Ala172=) rs2115171786
NM_000288.4(PEX7):c.517del (p.Ser173fs) rs2115171791
NM_000288.4(PEX7):c.519A>G (p.Ser173=)
NM_000288.4(PEX7):c.519A>T (p.Ser173=) rs2115171796
NM_000288.4(PEX7):c.523_526dup (p.Gly176fs)
NM_000288.4(PEX7):c.526+12T>C
NM_000288.4(PEX7):c.526+15A>G
NM_000288.4(PEX7):c.526+7T>A
NM_000288.4(PEX7):c.526+8A>T
NM_000288.4(PEX7):c.526+9T>C
NM_000288.4(PEX7):c.527-11C>G
NM_000288.4(PEX7):c.527-11C>T
NM_000288.4(PEX7):c.527-15C>T rs771346363
NM_000288.4(PEX7):c.527-17G>A
NM_000288.4(PEX7):c.527-5A>G rs1222228219
NM_000288.4(PEX7):c.527-6dup
NM_000288.4(PEX7):c.52dup (p.His18fs)
NM_000288.4(PEX7):c.530A>G (p.Asp177Gly)
NM_000288.4(PEX7):c.532C>A (p.Gln178Lys)
NM_000288.4(PEX7):c.533A>G (p.Gln178Arg)
NM_000288.4(PEX7):c.538_539del (p.Leu180fs) rs1582757650
NM_000288.4(PEX7):c.539T>C (p.Leu180Pro)
NM_000288.4(PEX7):c.53A>G (p.His18Arg) rs2115122498
NM_000288.4(PEX7):c.542G>T (p.Arg181Ile)
NM_000288.4(PEX7):c.546_547del (p.Ile182fs) rs2115216632
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
NM_000288.4(PEX7):c.54C>T (p.His18=) rs1188167149
NM_000288.4(PEX7):c.558G>A (p.Lys186=)
NM_000288.4(PEX7):c.561A>G (p.Ala187=) rs2115216726
NM_000288.4(PEX7):c.568G>A (p.Val190Ile)
NM_000288.4(PEX7):c.570A>G (p.Val190=) rs1392688180
NM_000288.4(PEX7):c.57C>T (p.Gly19=) rs2115122524
NM_000288.4(PEX7):c.57_67dup (p.Glu23fs) rs2115122515
NM_000288.4(PEX7):c.587C>T (p.Ala196Val) rs2115216804
NM_000288.4(PEX7):c.597A>G (p.Ala199=) rs1775078603
NM_000288.4(PEX7):c.609T>C (p.Ser203=)
NM_000288.4(PEX7):c.60C>T (p.Tyr20=) rs1057516882
NM_000288.4(PEX7):c.618G>T (p.Trp206Cys)
NM_000288.4(PEX7):c.620G>C (p.Cys207Ser)
NM_000288.4(PEX7):c.633+11T>G
NM_000288.4(PEX7):c.633+15del
NM_000288.4(PEX7):c.633+16C>T
NM_000288.4(PEX7):c.633+17T>C
NM_000288.4(PEX7):c.633+18A>G
NM_000288.4(PEX7):c.633+1G>A rs1057516989
NM_000288.4(PEX7):c.633+20C>T
NM_000288.4(PEX7):c.633+3A>G
NM_000288.4(PEX7):c.633+5_633+8dup
NM_000288.4(PEX7):c.633+7T>C rs1189483255
NM_000288.4(PEX7):c.633+8G>A rs2115216969
NM_000288.4(PEX7):c.634-13G>C
NM_000288.4(PEX7):c.634-16T>G
NM_000288.4(PEX7):c.634-2A>G
NM_000288.4(PEX7):c.634-4_634-3del
NM_000288.4(PEX7):c.634-8G>C
NM_000288.4(PEX7):c.634-9T>C
NM_000288.4(PEX7):c.636T>C (p.Asn212=) rs2115224289
NM_000288.4(PEX7):c.639G>A (p.Leu213=) rs2115224297
NM_000288.4(PEX7):c.63C>A (p.Ala21=) rs935581914
NM_000288.4(PEX7):c.63C>G (p.Ala21=) rs935581914
NM_000288.4(PEX7):c.640C>T (p.Leu214=) rs1582759870
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro) rs1554333880
NM_000288.4(PEX7):c.648C>G (p.Thr216=) rs754226264
NM_000288.4(PEX7):c.652del (p.Ala218fs)
NM_000288.4(PEX7):c.654G>T (p.Ala218=) rs1414537422
NM_000288.4(PEX7):c.66C>G (p.Ala22=)
NM_000288.4(PEX7):c.66C>T (p.Ala22=) rs1208528237
NM_000288.4(PEX7):c.672A>G (p.Arg224=) rs747145944
NM_000288.4(PEX7):c.67G>C (p.Glu23Gln)
NM_000288.4(PEX7):c.683dup (p.Leu228fs)
NM_000288.4(PEX7):c.690T>C (p.Asn230=) rs762666939
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.699A>G (p.Gln233=) rs2115224521
NM_000288.4(PEX7):c.69G>A (p.Glu23=)
NM_000288.4(PEX7):c.702A>G (p.Pro234=)
NM_000288.4(PEX7):c.704T>C (p.Val235Ala)
NM_000288.4(PEX7):c.705G>T (p.Val235=)
NM_000288.4(PEX7):c.716T>C (p.Leu239Pro) rs754346713
NM_000288.4(PEX7):c.717T>A (p.Leu239=)
NM_000288.4(PEX7):c.72C>A (p.Phe24Leu)
NM_000288.4(PEX7):c.72C>T (p.Phe24=) rs1774100078
NM_000288.4(PEX7):c.730G>T (p.Ala244Ser) rs375091907
NM_000288.4(PEX7):c.733A>G (p.Ile245Val) rs750815894
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe) rs750815894
NM_000288.4(PEX7):c.736_747+17del rs1057517257
NM_000288.4(PEX7):c.737G>T (p.Arg246Met) rs780186421
NM_000288.4(PEX7):c.739A>C (p.Arg247=) rs2115224658
NM_000288.4(PEX7):c.741G>A (p.Arg247=) rs201562684
NM_000288.4(PEX7):c.747+10C>T rs2115224694
NM_000288.4(PEX7):c.747+11A>G
NM_000288.4(PEX7):c.747+11A>T rs370027126
NM_000288.4(PEX7):c.747+17del rs2115224706
NM_000288.4(PEX7):c.747+18C>T
NM_000288.4(PEX7):c.747+1G>A
NM_000288.4(PEX7):c.747+20_747+24del rs199624608
NM_000288.4(PEX7):c.747+2T>A
NM_000288.4(PEX7):c.747+5G>A rs1775145774
NM_000288.4(PEX7):c.747del (p.Lys249fs)
NM_000288.4(PEX7):c.748-13T>C
NM_000288.4(PEX7):c.748-14T>C
NM_000288.4(PEX7):c.748-16C>A
NM_000288.4(PEX7):c.748-16_748-14del rs2115228612
NM_000288.4(PEX7):c.748-2A>G rs778862698
NM_000288.4(PEX7):c.748-4G>T rs74658757
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000288.4(PEX7):c.748-5dup rs563675060
NM_000288.4(PEX7):c.748-6T>G
NM_000288.4(PEX7):c.748-6_748-5dup
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.751dup (p.Ser251fs)
NM_000288.4(PEX7):c.759T>C (p.Phe253=) rs1237865567
NM_000288.4(PEX7):c.75C>T (p.Ser25=) rs1774100185
NM_000288.4(PEX7):c.765T>G (p.Ala255=)
NM_000288.4(PEX7):c.76C>G (p.Pro26Ala)
NM_000288.4(PEX7):c.772C>T (p.Leu258=)
NM_000288.4(PEX7):c.777C>G (p.Ala259=) rs2115228915
NM_000288.4(PEX7):c.778T>A (p.Ser260Thr)
NM_000288.4(PEX7):c.77C>G (p.Pro26Arg)
NM_000288.4(PEX7):c.780T>C (p.Ser260=) rs2115228945
NM_000288.4(PEX7):c.783C>T (p.Cys261=)
NM_000288.4(PEX7):c.789T>C (p.Tyr263=) rs2115229029
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile) rs1452611618
NM_000288.4(PEX7):c.800T>C (p.Val267Ala)
NM_000288.4(PEX7):c.803+14dup rs777087989
NM_000288.4(PEX7):c.803+1G>A
NM_000288.4(PEX7):c.803+20A>C
NM_000288.4(PEX7):c.803+5A>C
NM_000288.4(PEX7):c.803+9G>A
NM_000288.4(PEX7):c.803+9_803+10del rs2115229196
NM_000288.4(PEX7):c.803G>C (p.Arg268Thr)
NM_000288.4(PEX7):c.804-10A>G
NM_000288.4(PEX7):c.804-12T>C
NM_000288.4(PEX7):c.804-14A>G
NM_000288.4(PEX7):c.804-8C>G rs2115272911
NM_000288.4(PEX7):c.804-9T>C
NM_000288.4(PEX7):c.813C>T (p.Asn271=) rs2115272944
NM_000288.4(PEX7):c.818C>G (p.Ser273Ter)
NM_000288.4(PEX7):c.81C>T (p.Tyr27=) rs1057516737
NM_000288.4(PEX7):c.822G>A (p.Lys274=) rs2115272962
NM_000288.4(PEX7):c.828C>T (p.Asp276=)
NM_000288.4(PEX7):c.830C>G (p.Ser277Cys)
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe) rs1775685342
NM_000288.4(PEX7):c.848A>C (p.Glu283Ala) rs2115273002
NM_000288.4(PEX7):c.84G>A (p.Leu28=) rs1167579335
NM_000288.4(PEX7):c.84G>C (p.Leu28=)
NM_000288.4(PEX7):c.855T>C (p.His285=) rs2115273033
NM_000288.4(PEX7):c.858A>G (p.Thr286=)
NM_000288.4(PEX7):c.858_867del (p.Glu287fs)
NM_000288.4(PEX7):c.85C>G (p.Pro29Ala)
NM_000288.4(PEX7):c.860_861del (p.Glu287fs) rs2115273041
NM_000288.4(PEX7):c.861G>A (p.Glu287=)
NM_000288.4(PEX7):c.870T>C (p.Cys290=)
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln) rs267608257
NM_000288.4(PEX7):c.876A>G (p.Leu292=)
NM_000288.4(PEX7):c.879C>A (p.Asp293Glu)
NM_000288.4(PEX7):c.87G>A (p.Pro29=)
NM_000288.4(PEX7):c.87G>C (p.Pro29=)
NM_000288.4(PEX7):c.882C>T (p.Phe294=) rs1775686747
NM_000288.4(PEX7):c.883A>G (p.Ser295Gly)
NM_000288.4(PEX7):c.900T>A (p.Thr300=)
NM_000288.4(PEX7):c.903+10A>T rs747530925
NM_000288.4(PEX7):c.903+12A>G
NM_000288.4(PEX7):c.903+20G>A
NM_000288.4(PEX7):c.903+5C>T
NM_000288.4(PEX7):c.903+7G>T rs1227993935
NM_000288.4(PEX7):c.903+8A>T
NM_000288.4(PEX7):c.904-10del
NM_000288.4(PEX7):c.904-16C>T
NM_000288.4(PEX7):c.904-20_904-17del
NM_000288.4(PEX7):c.904-4C>G rs1775964629
NM_000288.4(PEX7):c.904-9G>A rs1175458353
NM_000288.4(PEX7):c.90C>A (p.Gly30=) rs2115122724
NM_000288.4(PEX7):c.90C>T (p.Gly30=) rs2115122724
NM_000288.4(PEX7):c.911A>T (p.Asp304Val)
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe) rs267608258
NM_000288.4(PEX7):c.91C>T (p.Arg31Cys)
NM_000288.4(PEX7):c.934A>G (p.Lys312Glu) rs2115300138
NM_000288.4(PEX7):c.951T>C (p.Ala317=) rs2115300178
NM_000288.4(PEX7):c.957T>C (p.Leu319=) rs1275603952
NM_000288.4(PEX7):c.960T>C (p.Thr320=)
NM_000288.4(PEX7):c.960T>G (p.Thr320=)
NM_000288.4(PEX7):c.964C>A (p.Pro322Thr)
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp) rs1184131500
NM_000288.4(PEX7):c.969T>A (p.Ala323=)
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg) rs988988279
NM_000288.4(PEX7):c.9G>A (p.Ala3=) rs1475959844

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