ClinVar Miner

List of variants in gene PEX1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 433
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522 0.00270
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_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
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.2645C>T (p.Pro882Leu) rs141764012 0.00066
NM_000466.3(PEX1):c.645C>G (p.Thr215=) rs151041559 0.00066
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_000466.3(PEX1):c.1360-7C>T rs371890000 0.00029
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796 0.00022
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) rs201719745 0.00022
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631 0.00021
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) rs141510219 0.00016
NM_000466.3(PEX1):c.293C>T (p.Ser98Phe) rs369100815 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr) rs143283146 0.00015
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433 0.00014
NM_000466.3(PEX1):c.1271T>C (p.Ile424Thr) rs201807430 0.00013
NM_000466.3(PEX1):c.891A>G (p.Ile297Met) rs143206380 0.00013
NM_000466.3(PEX1):c.1587+5T>C rs199526105 0.00011
NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp) rs199989676 0.00011
NM_000466.3(PEX1):c.1815A>G (p.Lys605=) rs112688556 0.00011
NM_000466.3(PEX1):c.2060G>A (p.Arg687Gln) rs201443294 0.00011
NM_000466.3(PEX1):c.88C>T (p.His30Tyr) rs375045292 0.00011
NM_000466.3(PEX1):c.2509C>T (p.Leu837=) rs371701421 0.00010
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val) rs561561515 0.00007
NM_000466.3(PEX1):c.2021C>T (p.Pro674Leu) rs141509344 0.00007
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg) rs545731416 0.00007
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala) rs371309198 0.00006
NM_000466.3(PEX1):c.1256G>A (p.Arg419Lys) rs748937542 0.00006
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467 0.00006
NM_000466.3(PEX1):c.1717A>G (p.Ser573Gly) rs774417644 0.00006
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg) rs201016626 0.00006
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573 0.00006
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) rs372485912 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_000466.3(PEX1):c.305C>A (p.Ser102Tyr) rs143369243 0.00005
NM_000466.3(PEX1):c.2059C>T (p.Arg687Trp) rs138008298 0.00004
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn) rs374010060 0.00004
NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu) rs769356901 0.00004
NM_000466.3(PEX1):c.2719-3T>C rs1034823292 0.00004
NM_000466.3(PEX1):c.611G>A (p.Arg204Lys) rs369126779 0.00004
NM_000466.3(PEX1):c.952G>A (p.Asp318Asn) rs754893068 0.00004
NM_000466.3(PEX1):c.1283C>T (p.Ala428Val) rs376883207 0.00003
NM_000466.3(PEX1):c.148G>A (p.Val50Ile) rs768702189 0.00003
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala) rs775544654 0.00003
NM_000466.3(PEX1):c.2240A>C (p.Glu747Ala) rs200207576 0.00003
NM_000466.3(PEX1):c.2268A>G (p.Lys756=) rs1434174453 0.00003
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088 0.00003
NM_000466.3(PEX1):c.2646G>A (p.Pro882=) rs775421085 0.00003
NM_000466.3(PEX1):c.544C>T (p.Arg182Cys) rs771535312 0.00003
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro) rs753823218 0.00003
NM_000466.3(PEX1):c.721del (p.Ser241fs) rs894289737 0.00003
NM_000466.3(PEX1):c.889A>G (p.Ile297Val) rs181796768 0.00003
NM_000466.3(PEX1):c.1240A>G (p.Ile414Val) rs759491353 0.00002
NM_000466.3(PEX1):c.134A>G (p.Gln45Arg) rs758309091 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 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_000466.3(PEX1):c.2708T>A (p.Ile903Lys) rs1305700033 0.00002
NM_000466.3(PEX1):c.357G>A (p.Leu119=) rs1485077349 0.00002
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257 0.00002
NM_000466.3(PEX1):c.1021C>G (p.Pro341Ala) rs137856931 0.00001
NM_000466.3(PEX1):c.1099C>A (p.Gln367Lys) rs140990231 0.00001
NM_000466.3(PEX1):c.1166A>G (p.Asn389Ser) rs1179674772 0.00001
NM_000466.3(PEX1):c.1187A>G (p.Asn396Ser) rs398123407 0.00001
NM_000466.3(PEX1):c.1199A>T (p.Tyr400Phe) rs772086409 0.00001
NM_000466.3(PEX1):c.1277T>C (p.Met426Thr) rs780611674 0.00001
NM_000466.3(PEX1):c.1285G>A (p.Val429Ile) rs780349018 0.00001
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser) rs560969584 0.00001
NM_000466.3(PEX1):c.1407G>T (p.Trp469Cys) rs746349696 0.00001
NM_000466.3(PEX1):c.1412A>G (p.Gln471Arg) rs1219227236 0.00001
NM_000466.3(PEX1):c.1507A>G (p.Ile503Val) rs771520057 0.00001
NM_000466.3(PEX1):c.1516T>C (p.Ser506Pro) rs778220793 0.00001
NM_000466.3(PEX1):c.1609A>G (p.Lys537Glu) rs1378023176 0.00001
NM_000466.3(PEX1):c.1620C>G (p.Asn540Lys) rs917874479 0.00001
NM_000466.3(PEX1):c.1621A>G (p.Ser541Gly) rs1204334087 0.00001
NM_000466.3(PEX1):c.1671-13A>G rs757960956 0.00001
NM_000466.3(PEX1):c.1690G>A (p.Val564Ile) rs183965018 0.00001
NM_000466.3(PEX1):c.169T>C (p.Phe57Leu) rs1162642408 0.00001
NM_000466.3(PEX1):c.1714C>G (p.His572Asp) rs1167491787 0.00001
NM_000466.3(PEX1):c.1750A>G (p.Met584Val) rs758085238 0.00001
NM_000466.3(PEX1):c.1754C>T (p.Ser585Phe) rs1792225580 0.00001
NM_000466.3(PEX1):c.1767A>T (p.Gly589=) rs1364124177 0.00001
NM_000466.3(PEX1):c.1772G>A (p.Arg591Lys) rs754337792 0.00001
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000466.3(PEX1):c.1810G>A (p.Gly604Arg) rs148427398 0.00001
NM_000466.3(PEX1):c.1851T>A (p.Phe617Leu) rs762766482 0.00001
NM_000466.3(PEX1):c.1916A>T (p.Asn639Ile) rs200438144 0.00001
NM_000466.3(PEX1):c.1945T>G (p.Ser649Ala) rs1251466114 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.2026C>T (p.His676Tyr) rs759330849 0.00001
NM_000466.3(PEX1):c.2084T>C (p.Met695Thr) rs112747515 0.00001
NM_000466.3(PEX1):c.2138A>G (p.Gln713Arg) rs1356967048 0.00001
NM_000466.3(PEX1):c.2174C>T (p.Ala725Val) rs1268325040 0.00001
NM_000466.3(PEX1):c.2195A>G (p.Gln732Arg) rs147069266 0.00001
NM_000466.3(PEX1):c.2235A>T (p.Arg745Ser) rs963232359 0.00001
NM_000466.3(PEX1):c.2278G>C (p.Asp760His) rs757149759 0.00001
NM_000466.3(PEX1):c.2332G>A (p.Gly778Arg) rs921866912 0.00001
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala) rs886062505 0.00001
NM_000466.3(PEX1):c.2375T>C (p.Ile792Thr) rs747899377 0.00001
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile) rs750911436 0.00001
NM_000466.3(PEX1):c.2456G>A (p.Arg819His) rs376273608 0.00001
NM_000466.3(PEX1):c.2518_2520del (p.Asp840del) rs1385204416 0.00001
NM_000466.3(PEX1):c.2554C>T (p.Leu852Phe) rs202090176 0.00001
NM_000466.3(PEX1):c.2636T>C (p.Leu879Ser) rs1362906637 0.00001
NM_000466.3(PEX1):c.263A>T (p.Asn88Ile) rs763218526 0.00001
NM_000466.3(PEX1):c.2687G>A (p.Arg896Gln) rs748798206 0.00001
NM_000466.3(PEX1):c.2707A>G (p.Ile903Val) rs1009218596 0.00001
NM_000466.3(PEX1):c.2743A>T (p.Ile915Phe) rs376029287 0.00001
NM_000466.3(PEX1):c.2744T>C (p.Ile915Thr) rs757305859 0.00001
NM_000466.3(PEX1):c.2767C>T (p.Arg923Trp) rs780992963 0.00001
NM_000466.3(PEX1):c.2783+4G>A rs751416309 0.00001
NM_000466.3(PEX1):c.289T>C (p.Cys97Arg) rs1792936652 0.00001
NM_000466.3(PEX1):c.404G>A (p.Arg135Gln) rs754529845 0.00001
NM_000466.3(PEX1):c.440T>C (p.Val147Ala) rs750928084 0.00001
NM_000466.3(PEX1):c.457A>G (p.Ile153Val) rs200106153 0.00001
NM_000466.3(PEX1):c.458T>C (p.Ile153Thr) rs760942926 0.00001
NM_000466.3(PEX1):c.541A>C (p.Thr181Pro) rs775093154 0.00001
NM_000466.3(PEX1):c.659C>T (p.Ser220Leu) rs759048090 0.00001
NM_000466.3(PEX1):c.688G>A (p.Glu230Lys) rs781371997 0.00001
NM_000466.3(PEX1):c.693C>T (p.Asn231=) rs1463386429 0.00001
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del) rs754890130 0.00001
NM_000466.3(PEX1):c.724G>A (p.Val242Ile) rs764044654 0.00001
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser) rs780119112 0.00001
NM_000466.3(PEX1):c.814G>A (p.Ala272Thr) rs528610267 0.00001
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506 0.00001
NM_000466.3(PEX1):c.831G>A (p.Gln277=) rs1210178752 0.00001
NM_000466.3(PEX1):c.853A>G (p.Asn285Asp) rs1407539383 0.00001
NM_000466.3(PEX1):c.854A>G (p.Asn285Ser) rs781103940 0.00001
NM_000466.3(PEX1):c.953A>G (p.Asp318Gly) rs751341597 0.00001
GRCh37/hg19 7q21.2(chr7:92119403-92149555)x3
NC_000007.13:g.(?_92116771)_(92151579_?)dup
NC_000007.14:g.(?_92487437)_(92487561_?)del
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del) rs1357462196
NM_000466.3(PEX1):c.103C>T (p.Leu35Phe)
NM_000466.3(PEX1):c.1057T>G (p.Leu353Val)
NM_000466.3(PEX1):c.1060T>C (p.Ser354Pro)
NM_000466.3(PEX1):c.1070A>C (p.Lys357Thr) rs2116243553
NM_000466.3(PEX1):c.1077G>A (p.Lys359=) rs138905930
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn) rs138905930
NM_000466.3(PEX1):c.1081A>G (p.Met361Val) rs746906648
NM_000466.3(PEX1):c.108G>A (p.Val36=) rs2116298440
NM_000466.3(PEX1):c.1096G>C (p.Asp366His)
NM_000466.3(PEX1):c.1096G>T (p.Asp366Tyr)
NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del) rs1554375280
NM_000466.3(PEX1):c.1104A>C (p.Lys368Asn) rs2116243334
NM_000466.3(PEX1):c.1109T>C (p.Ile370Thr) rs1562866173
NM_000466.3(PEX1):c.1111A>G (p.Arg371Gly)
NM_000466.3(PEX1):c.1111A>T (p.Arg371Trp) rs769973410
NM_000466.3(PEX1):c.1135G>A (p.Glu379Lys)
NM_000466.3(PEX1):c.1141G>C (p.Ala381Pro)
NM_000466.3(PEX1):c.1141G>T (p.Ala381Ser) rs540780825
NM_000466.3(PEX1):c.1142C>T (p.Ala381Val)
NM_000466.3(PEX1):c.1156G>C (p.Val386Leu) rs2116242910
NM_000466.3(PEX1):c.115C>A (p.Leu39Met)
NM_000466.3(PEX1):c.1175A>G (p.Glu392Gly) rs1792836885
NM_000466.3(PEX1):c.1177G>A (p.Glu393Lys) rs2116242745
NM_000466.3(PEX1):c.1183A>G (p.Asn395Asp) rs769902926
NM_000466.3(PEX1):c.1184A>T (p.Asn395Ile) rs1008956990
NM_000466.3(PEX1):c.1190C>T (p.Ala397Val) rs2116242607
NM_000466.3(PEX1):c.1193T>A (p.Ile398Asn)
NM_000466.3(PEX1):c.119A>G (p.His40Arg)
NM_000466.3(PEX1):c.1214A>C (p.Glu405Ala)
NM_000466.3(PEX1):c.1229G>A (p.Gly410Glu) rs2116242366
NM_000466.3(PEX1):c.122TGC[3] (p.Leu42dup) rs1554378340
NM_000466.3(PEX1):c.1233A>G (p.Lys411=)
NM_000466.3(PEX1):c.1246G>A (p.Asp416Asn) rs1562862971
NM_000466.3(PEX1):c.1279C>A (p.His427Asn) rs2116221515
NM_000466.3(PEX1):c.1282G>A (p.Ala428Thr)
NM_000466.3(PEX1):c.129+10C>T rs886062508
NM_000466.3(PEX1):c.129+8G>A rs1793393956
NM_000466.3(PEX1):c.1323T>G (p.Ile441Met) rs2116221247
NM_000466.3(PEX1):c.1327A>G (p.Arg443Gly) rs2116221209
NM_000466.3(PEX1):c.1331C>T (p.Ser444Phe) rs1792597851
NM_000466.3(PEX1):c.1343A>T (p.Gln448Leu)
NM_000466.3(PEX1):c.1354A>C (p.Asn452His) rs2116220996
NM_000466.3(PEX1):c.1359+15A>G
NM_000466.3(PEX1):c.1359+5G>A rs727504077
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1396T>C (p.Phe466Leu)
NM_000466.3(PEX1):c.1397T>G (p.Phe466Cys) rs1040716320
NM_000466.3(PEX1):c.1415A>G (p.Gln472Arg)
NM_000466.3(PEX1):c.1417T>C (p.Ser473Pro) rs1474508557
NM_000466.3(PEX1):c.1429A>G (p.Met477Val)
NM_000466.3(PEX1):c.1432C>T (p.Leu478Phe)
NM_000466.3(PEX1):c.1434T>G (p.Leu478=) rs757668497
NM_000466.3(PEX1):c.1445_1446insTGA (p.Ile482_Ser483insGlu) rs2116209401
NM_000466.3(PEX1):c.144A>C (p.Glu48Asp) rs1793080526
NM_000466.3(PEX1):c.1472A>C (p.Glu491Ala)
NM_000466.3(PEX1):c.147_149del (p.Val50del)
NM_000466.3(PEX1):c.1484-11_1484-6del rs766638581
NM_000466.3(PEX1):c.1484-4A>G
NM_000466.3(PEX1):c.1489A>C (p.Lys497Gln)
NM_000466.3(PEX1):c.1490A>G (p.Lys497Arg)
NM_000466.3(PEX1):c.1494A>T (p.Glu498Asp)
NM_000466.3(PEX1):c.1502_1513del (p.Leu501_Val504del)
NM_000466.3(PEX1):c.1524AAAAGA[1] (p.508EK[1]) rs1554373613
NM_000466.3(PEX1):c.1526A>C (p.Lys509Thr)
NM_000466.3(PEX1):c.1535A>T (p.Asp512Val)
NM_000466.3(PEX1):c.154A>G (p.Ser52Gly)
NM_000466.3(PEX1):c.1562A>G (p.Asn521Ser)
NM_000466.3(PEX1):c.1582A>G (p.Ile528Val) rs1792432441
NM_000466.3(PEX1):c.1587+6A>G
NM_000466.3(PEX1):c.1588-7A>G
NM_000466.3(PEX1):c.1593_1595del (p.Leu532del) rs1554373273
NM_000466.3(PEX1):c.1600C>G (p.Pro534Ala) rs1419015282
NM_000466.3(PEX1):c.1600C>T (p.Pro534Ser) rs1419015282
NM_000466.3(PEX1):c.1601C>G (p.Pro534Arg) rs983690128
NM_000466.3(PEX1):c.1603A>G (p.Met535Val)
NM_000466.3(PEX1):c.1605G>A (p.Met535Ile) rs2116195142
NM_000466.3(PEX1):c.1615G>A (p.Glu539Lys)
NM_000466.3(PEX1):c.1620C>T (p.Asn540=)
NM_000466.3(PEX1):c.1623T>G (p.Ser541Arg)
NM_000466.3(PEX1):c.1627G>A (p.Glu543Lys) rs767103504
NM_000466.3(PEX1):c.1638T>A (p.Phe546Leu) rs1397315670
NM_000466.3(PEX1):c.1639A>G (p.Ile547Val)
NM_000466.3(PEX1):c.1645C>T (p.Pro549Ser) rs1053943553
NM_000466.3(PEX1):c.1646C>G (p.Pro549Arg) rs751131750
NM_000466.3(PEX1):c.1647T>A (p.Pro549=)
NM_000466.3(PEX1):c.1657C>A (p.Leu553Met)
NM_000466.3(PEX1):c.1661G>A (p.Ser554Asn)
NM_000466.3(PEX1):c.1663T>C (p.Ser555Pro) rs773827098
NM_000466.3(PEX1):c.1668G>C (p.Leu556Phe) rs1792345170
NM_000466.3(PEX1):c.1670+5G>T rs201343162
NM_000466.3(PEX1):c.1679A>G (p.Asn560Ser) rs2116181845
NM_000466.3(PEX1):c.1688G>A (p.Gly563Asp) rs2116181769
NM_000466.3(PEX1):c.1699T>G (p.Leu567Val) rs775665629
NM_000466.3(PEX1):c.1702G>C (p.Glu568Gln)
NM_000466.3(PEX1):c.1706A>C (p.His569Pro)
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.1730G>A (p.Arg577His)
NM_000466.3(PEX1):c.1741C>T (p.Arg581Trp)
NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln) rs370483961
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del) rs1554372756
NM_000466.3(PEX1):c.1746G>C (p.Gln582His)
NM_000466.3(PEX1):c.1754C>A (p.Ser585Tyr) rs1792225580
NM_000466.3(PEX1):c.1763C>T (p.Ala588Val) rs2116181053
NM_000466.3(PEX1):c.1804-12A>G rs143041528
NM_000466.3(PEX1):c.1823T>C (p.Leu608Ser)
NM_000466.3(PEX1):c.1829_1830del (p.Lys610fs) rs1562857333
NM_000466.3(PEX1):c.1832C>T (p.Ala611Val) rs2116176413
NM_000466.3(PEX1):c.1834A>G (p.Ile612Val)
NM_000466.3(PEX1):c.1867C>A (p.His623Asn) rs1792183513
NM_000466.3(PEX1):c.1873G>C (p.Glu625Gln) rs2116176145
NM_000466.3(PEX1):c.1875G>C (p.Glu625Asp) rs775491706
NM_000466.3(PEX1):c.1877G>C (p.Arg626Thr) rs1310822252
NM_000466.3(PEX1):c.1892C>A (p.Ala631Asp) rs745554964
NM_000466.3(PEX1):c.1898G>A (p.Arg633Gln)
NM_000466.3(PEX1):c.1899A>T (p.Arg633=) rs2116175839
NM_000466.3(PEX1):c.1900+4T>C rs2116175794
NM_000466.3(PEX1):c.1901-14T>C rs1792111444
NM_000466.3(PEX1):c.1901G>A (p.Gly634Glu)
NM_000466.3(PEX1):c.1918A>T (p.Ile640Leu)
NM_000466.3(PEX1):c.1921C>G (p.Gln641Glu)
NM_000466.3(PEX1):c.1928C>A (p.Thr643Asn)
NM_000466.3(PEX1):c.1933G>C (p.Glu645Gln)
NM_000466.3(PEX1):c.1946C>T (p.Ser649Leu)
NM_000466.3(PEX1):c.1951G>A (p.Ala651Thr) rs1562856189
NM_000466.3(PEX1):c.1954G>T (p.Val652Leu) rs559310827
NM_000466.3(PEX1):c.1962G>A (p.Met654Ile)
NM_000466.3(PEX1):c.1966C>T (p.Pro656Ser)
NM_000466.3(PEX1):c.1970C>T (p.Ser657Phe)
NM_000466.3(PEX1):c.1975G>A (p.Val659Ile) rs193221288
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe) rs193221288
NM_000466.3(PEX1):c.1978C>G (p.Leu660Val) rs2116165647
NM_000466.3(PEX1):c.1987G>A (p.Asp663Asn)
NM_000466.3(PEX1):c.199A>G (p.Ser67Gly)
NM_000466.3(PEX1):c.2012C>G (p.Pro671Arg)
NM_000466.3(PEX1):c.2014G>A (p.Ala672Thr)
NM_000466.3(PEX1):c.2015C>A (p.Ala672Asp) rs897278975
NM_000466.3(PEX1):c.2017G>C (p.Val673Leu)
NM_000466.3(PEX1):c.2019C>G (p.Val673=)
NM_000466.3(PEX1):c.2024A>G (p.Glu675Gly) rs1792100189
NM_000466.3(PEX1):c.2039_2050del (p.Pro680_Val683del) rs1554372090
NM_000466.3(PEX1):c.2044G>A (p.Ala682Thr) rs2116165019
NM_000466.3(PEX1):c.2060G>T (p.Arg687Leu)
NM_000466.3(PEX1):c.2069A>G (p.His690Arg)
NM_000466.3(PEX1):c.2071+3A>G rs1189294296
NM_000466.3(PEX1):c.2072-12_2072-9del
NM_000466.3(PEX1):c.2086A>G (p.Ile696Val) rs1792018651
NM_000466.3(PEX1):c.2093A>G (p.Glu698Gly) rs1792018002
NM_000466.3(PEX1):c.2099T>C (p.Ile700Thr) rs1792017598
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2126T>G (p.Ile709Ser)
NM_000466.3(PEX1):c.2134A>G (p.Ser712Gly)
NM_000466.3(PEX1):c.2135G>T (p.Ser712Ile)
NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3]) rs1554371691
NM_000466.3(PEX1):c.2145G>T (p.Gln715His) rs1292385792
NM_000466.3(PEX1):c.2165T>C (p.Leu722Pro)
NM_000466.3(PEX1):c.217G>A (p.Val73Met)
NM_000466.3(PEX1):c.218T>C (p.Val73Ala) rs1793077054
NM_000466.3(PEX1):c.2215C>T (p.Pro739Ser)
NM_000466.3(PEX1):c.2226G>C (p.Gln742His)
NM_000466.3(PEX1):c.2227-11T>A rs760316851
NM_000466.3(PEX1):c.2227-3T>A
NM_000466.3(PEX1):c.2227G>A (p.Glu743Lys)
NM_000466.3(PEX1):c.2234G>T (p.Arg745Ile) rs1562854190
NM_000466.3(PEX1):c.2240A>G (p.Glu747Gly)
NM_000466.3(PEX1):c.2249G>A (p.Cys750Tyr)
NM_000466.3(PEX1):c.2262_2264del (p.Lys754del) rs1554371157
NM_000466.3(PEX1):c.2275T>C (p.Cys759Arg)
NM_000466.3(PEX1):c.2276G>A (p.Cys759Tyr)
NM_000466.3(PEX1):c.2284A>C (p.Asn762His)
NM_000466.3(PEX1):c.2306T>C (p.Leu769Pro) rs767182250
NM_000466.3(PEX1):c.230A>G (p.Asn77Ser)
NM_000466.3(PEX1):c.2312A>G (p.His771Arg) rs1791952164
NM_000466.3(PEX1):c.2336T>C (p.Phe779Ser)
NM_000466.3(PEX1):c.233G>C (p.Arg78Thr) rs2116268284
NM_000466.3(PEX1):c.2359C>T (p.Leu787Phe)
NM_000466.3(PEX1):c.235C>G (p.Gln79Glu)
NM_000466.3(PEX1):c.2368C>G (p.Arg790Gly) rs61750417
NM_000466.3(PEX1):c.2369G>A (p.Arg790Gln)
NM_000466.3(PEX1):c.2377C>T (p.His793Tyr)
NM_000466.3(PEX1):c.2384G>A (p.Arg795Gln) rs368954584
NM_000466.3(PEX1):c.2389T>A (p.Ser797Thr) rs1024476499
NM_000466.3(PEX1):c.2393G>A (p.Arg798His)
NM_000466.3(PEX1):c.2400_2402dup (p.Ile801dup) rs1554371019
NM_000466.3(PEX1):c.2416+4T>C
NM_000466.3(PEX1):c.2417-5A>G
NM_000466.3(PEX1):c.2427A>C (p.Leu809Phe)
NM_000466.3(PEX1):c.2443C>G (p.Gln815Glu)
NM_000466.3(PEX1):c.2449G>A (p.Ala817Thr) rs2116145984
NM_000466.3(PEX1):c.2458G>A (p.Gly820Arg)
NM_000466.3(PEX1):c.2468C>T (p.Pro823Leu) rs2116145764
NM_000466.3(PEX1):c.2480G>A (p.Arg827Gln)
NM_000466.3(PEX1):c.2480G>C (p.Arg827Pro) rs752937649
NM_000466.3(PEX1):c.2489A>G (p.Asn830Ser)
NM_000466.3(PEX1):c.2492T>C (p.Leu831Pro)
NM_000466.3(PEX1):c.2500C>A (p.Pro834Thr)
NM_000466.3(PEX1):c.2506G>C (p.Asp836His)
NM_000466.3(PEX1):c.2536C>T (p.His846Tyr) rs2116145200
NM_000466.3(PEX1):c.2542G>T (p.Val848Phe)
NM_000466.3(PEX1):c.2575C>A (p.Pro859Thr)
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.2584-9_2584-8del rs1554370144
NM_000466.3(PEX1):c.260C>T (p.Ser87Leu)
NM_000466.3(PEX1):c.2615G>A (p.Arg872Gln)
NM_000466.3(PEX1):c.2620A>G (p.Arg874Gly)
NM_000466.3(PEX1):c.2627G>T (p.Gly876Val) rs545382069
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2638T>A (p.Tyr880Asn)
NM_000466.3(PEX1):c.2667A>T (p.Leu889Phe) rs2116132673
NM_000466.3(PEX1):c.2687G>T (p.Arg896Leu)
NM_000466.3(PEX1):c.2689G>C (p.Glu897Gln) rs2116132462
NM_000466.3(PEX1):c.2693G>A (p.Ser898Asn) rs1791831263
NM_000466.3(PEX1):c.2701A>C (p.Asn901His)
NM_000466.3(PEX1):c.2708T>C (p.Ile903Thr)
NM_000466.3(PEX1):c.2714T>A (p.Val905Asp) rs2116132179
NM_000466.3(PEX1):c.2719-4A>G
NM_000466.3(PEX1):c.2726A>G (p.Glu909Gly)
NM_000466.3(PEX1):c.273G>A (p.Gln91=) rs1562869817
NM_000466.3(PEX1):c.2761G>A (p.Ala921Thr) rs2116110846
NM_000466.3(PEX1):c.2783+6T>C rs1585224298
NM_000466.3(PEX1):c.287C>G (p.Pro96Arg) rs1562868017
NM_000466.3(PEX1):c.296A>T (p.His99Leu) rs1562868002
NM_000466.3(PEX1):c.300_302del (p.Val101del)
NM_000466.3(PEX1):c.301G>A (p.Val101Ile) rs2116253380
NM_000466.3(PEX1):c.317T>G (p.Val106Gly)
NM_000466.3(PEX1):c.319G>A (p.Glu107Lys) rs1272833716
NM_000466.3(PEX1):c.322G>A (p.Val108Met)
NM_000466.3(PEX1):c.323T>C (p.Val108Ala)
NM_000466.3(PEX1):c.337G>A (p.Ala113Thr)
NM_000466.3(PEX1):c.340G>T (p.Asp114Tyr)
NM_000466.3(PEX1):c.346T>C (p.Trp116Arg)
NM_000466.3(PEX1):c.363G>A (p.Leu121=) rs200866361
NM_000466.3(PEX1):c.370G>A (p.Val124Ile) rs1792895303
NM_000466.3(PEX1):c.379G>A (p.Glu127Lys)
NM_000466.3(PEX1):c.385C>T (p.His129Tyr)
NM_000466.3(PEX1):c.400A>G (p.Ile134Val) rs1346290048
NM_000466.3(PEX1):c.401T>C (p.Ile134Thr)
NM_000466.3(PEX1):c.429T>A (p.Phe143Leu)
NM_000466.3(PEX1):c.431C>T (p.Pro144Leu) rs1792891356
NM_000466.3(PEX1):c.445C>A (p.Gln149Lys)
NM_000466.3(PEX1):c.452C>T (p.Thr151Met)
NM_000466.3(PEX1):c.453G>A (p.Thr151=) rs368714078
NM_000466.3(PEX1):c.455A>G (p.Tyr152Cys) rs1792889273
NM_000466.3(PEX1):c.464T>C (p.Ile155Thr) rs1562867275
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.472+4G>A rs2116248481
NM_000466.3(PEX1):c.472+5G>A rs1792887658
NM_000466.3(PEX1):c.475G>A (p.Ala159Thr) rs372455445
NM_000466.3(PEX1):c.475G>T (p.Ala159Ser) rs372455445
NM_000466.3(PEX1):c.484C>T (p.Pro162Ser) rs2116247732
NM_000466.3(PEX1):c.487G>C (p.Ala163Pro) rs750376002
NM_000466.3(PEX1):c.509A>T (p.Glu170Val)
NM_000466.3(PEX1):c.515A>T (p.Asp172Val)
NM_000466.3(PEX1):c.525C>A (p.Leu175=) rs886043502
NM_000466.3(PEX1):c.535C>T (p.Pro179Ser) rs760387811
NM_000466.3(PEX1):c.545G>A (p.Arg182His)
NM_000466.3(PEX1):c.545G>C (p.Arg182Pro) rs199591182
NM_000466.3(PEX1):c.547C>G (p.Arg183Gly) rs149806989
NM_000466.3(PEX1):c.548G>A (p.Arg183Gln)
NM_000466.3(PEX1):c.561T>G (p.Asn187Lys) rs944593088
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly) rs886062507
NM_000466.3(PEX1):c.601A>G (p.Ser201Gly)
NM_000466.3(PEX1):c.608G>A (p.Gly203Glu) rs755103969
NM_000466.3(PEX1):c.617A>G (p.Gln206Arg)
NM_000466.3(PEX1):c.630G>C (p.Met210Ile) rs1562866915
NM_000466.3(PEX1):c.631A>G (p.Lys211Glu)
NM_000466.3(PEX1):c.642A>C (p.Gln214His) rs760441307
NM_000466.3(PEX1):c.647A>G (p.Lys216Arg) rs1792871862
NM_000466.3(PEX1):c.652C>G (p.Leu218Val) rs1226753246
NM_000466.3(PEX1):c.686A>G (p.Asn229Ser)
NM_000466.3(PEX1):c.704T>C (p.Ile235Thr)
NM_000466.3(PEX1):c.716C>T (p.Ser239Leu)
NM_000466.3(PEX1):c.742A>C (p.Met248Leu)
NM_000466.3(PEX1):c.753C>T (p.Ser251=) rs1554375514
NM_000466.3(PEX1):c.851A>G (p.Asp284Gly)
NM_000466.3(PEX1):c.852C>A (p.Asp284Glu) rs1792859390
NM_000466.3(PEX1):c.859T>G (p.Phe287Val) rs1792858913
NM_000466.3(PEX1):c.881C>G (p.Pro294Arg)
NM_000466.3(PEX1):c.896A>G (p.Asn299Ser)
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser) rs751506204
NM_000466.3(PEX1):c.907A>G (p.Thr303Ala)
NM_000466.3(PEX1):c.920A>C (p.His307Pro)
NM_000466.3(PEX1):c.920A>G (p.His307Arg)
NM_000466.3(PEX1):c.927C>G (p.His309Gln) rs2116244426
NM_000466.3(PEX1):c.945T>G (p.Phe315Leu) rs1792852764
NM_000466.3(PEX1):c.947C>T (p.Pro316Leu) rs1296643317
NM_000466.3(PEX1):c.968A>T (p.Asp323Val)
NM_000466.3(PEX1):c.96G>A (p.Pro32=) rs1445565547
NM_000466.3(PEX1):c.973G>C (p.Glu325Gln)
NM_000466.3(PEX1):c.977C>T (p.Pro326Leu) rs1341957716
NM_000466.3(PEX1):c.97C>T (p.Arg33Trp)
NM_000466.3(PEX1):c.981C>G (p.Ser327Arg) rs370441413

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