ClinVar Miner

List of variants in gene PEX1 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1204):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 548
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.1671-7T>C rs74519968 0.01312
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522 0.00270
NM_000466.3(PEX1):c.934A>G (p.Ile312Val) rs146312634 0.00223
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.1797A>G (p.Gly599=) rs76986636 0.00140
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.1085C>T (p.Ser362Leu) rs138758170 0.00057
NM_000466.3(PEX1):c.2718+3A>G rs370536529 0.00040
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.273+12T>C rs377192432 0.00027
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) rs201719745 0.00022
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser) rs200857848 0.00021
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631 0.00021
NM_000466.3(PEX1):c.129+19G>A rs763458226 0.00020
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.159C>T (p.His53=) rs200950057 0.00014
NM_000466.3(PEX1):c.786G>A (p.Glu262=) rs770453102 0.00014
NM_000466.3(PEX1):c.223G>A (p.Glu75Lys) rs759993457 0.00012
NM_000466.3(PEX1):c.1360-17A>G rs372821961 0.00011
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.88C>T (p.His30Tyr) rs375045292 0.00011
NM_000466.3(PEX1):c.2509C>T (p.Leu837=) rs371701421 0.00010
NM_000466.3(PEX1):c.666T>C (p.Thr222=) rs145609203 0.00010
NM_000466.3(PEX1):c.2227-7T>C rs767127036 0.00009
NM_000466.3(PEX1):c.1659G>C (p.Leu553=) rs562108145 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.1284C>T (p.Ala428=) rs145153467 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.1803+14G>A rs376403633 0.00005
NM_000466.3(PEX1):c.129+16C>G rs376609246 0.00004
NM_000466.3(PEX1):c.130-18C>A rs532589095 0.00004
NM_000466.3(PEX1):c.1670+19A>G rs201646121 0.00004
NM_000466.3(PEX1):c.1827C>T (p.Ala609=) rs766421421 0.00004
NM_000466.3(PEX1):c.1901-18C>T rs375207681 0.00004
NM_000466.3(PEX1):c.2046G>A (p.Ala682=) rs144845259 0.00004
NM_000466.3(PEX1):c.2124G>C (p.Leu708=) rs200258130 0.00004
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn) rs374010060 0.00004
NM_000466.3(PEX1):c.1059A>G (p.Leu353=) rs774522579 0.00003
NM_000466.3(PEX1):c.1281T>C (p.His427=) rs979077056 0.00003
NM_000466.3(PEX1):c.1360-19C>G rs760820104 0.00003
NM_000466.3(PEX1):c.1587+7G>A rs371765274 0.00003
NM_000466.3(PEX1):c.1995C>T (p.Asp665=) rs758706584 0.00003
NM_000466.3(PEX1):c.2028T>C (p.His676=) rs774256047 0.00003
NM_000466.3(PEX1):c.2121A>G (p.Ala707=) rs771334207 0.00003
NM_000466.3(PEX1):c.2584-13_2584-12insG rs955834633 0.00003
NM_000466.3(PEX1):c.2646G>A (p.Pro882=) rs775421085 0.00003
NM_000466.3(PEX1):c.363G>T (p.Leu121=) rs200866361 0.00003
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro) rs753823218 0.00003
NM_000466.3(PEX1):c.1020T>C (p.Ser340=) rs761181376 0.00002
NM_000466.3(PEX1):c.1359+16T>C rs201631453 0.00002
NM_000466.3(PEX1):c.1486C>T (p.Leu496=) rs746430468 0.00002
NM_000466.3(PEX1):c.1494A>G (p.Glu498=) rs774980172 0.00002
NM_000466.3(PEX1):c.1566G>C (p.Leu522Phe) rs145471560 0.00002
NM_000466.3(PEX1):c.1635C>T (p.Asp545=) rs759202828 0.00002
NM_000466.3(PEX1):c.1900+7G>A rs1474660103 0.00002
NM_000466.3(PEX1):c.2072-17A>G rs557824423 0.00002
NM_000466.3(PEX1):c.2268A>G (p.Lys756=) rs1434174453 0.00002
NM_000466.3(PEX1):c.2269T>C (p.Leu757=) rs776758878 0.00002
NM_000466.3(PEX1):c.2715C>G (p.Val905=) rs748602242 0.00002
NM_000466.3(PEX1):c.2719-18del rs779261740 0.00002
NM_000466.3(PEX1):c.477A>C (p.Ala159=) rs759628709 0.00002
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257 0.00002
NM_000466.3(PEX1):c.897C>T (p.Asn299=) rs559305030 0.00002
NM_000466.3(PEX1):c.966T>C (p.Phe322=) rs375550740 0.00002
NM_000466.3(PEX1):c.111C>G (p.Ala37=) rs1412682486 0.00001
NM_000466.3(PEX1):c.1188T>C (p.Asn396=) rs747010300 0.00001
NM_000466.3(PEX1):c.1240-8A>C rs1439218691 0.00001
NM_000466.3(PEX1):c.126G>T (p.Leu42=) rs1304440662 0.00001
NM_000466.3(PEX1):c.129+12G>A rs1417437414 0.00001
NM_000466.3(PEX1):c.129+7T>G rs765006313 0.00001
NM_000466.3(PEX1):c.129+9C>T rs761519653 0.00001
NM_000466.3(PEX1):c.130-13C>G rs747033841 0.00001
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser) rs560969584 0.00001
NM_000466.3(PEX1):c.132T>C (p.Asn44=) rs1793081038 0.00001
NM_000466.3(PEX1):c.1359+10A>G rs1452023751 0.00001
NM_000466.3(PEX1):c.1395A>G (p.Val465=) rs746561219 0.00001
NM_000466.3(PEX1):c.1404A>G (p.Ser468=) rs1488590344 0.00001
NM_000466.3(PEX1):c.1483+8C>T rs911755069 0.00001
NM_000466.3(PEX1):c.1567C>T (p.Leu523=) rs757119959 0.00001
NM_000466.3(PEX1):c.1587+11G>A rs1792431360 0.00001
NM_000466.3(PEX1):c.1662C>T (p.Ser554=) rs763624262 0.00001
NM_000466.3(PEX1):c.1671-13A>G rs757960956 0.00001
NM_000466.3(PEX1):c.1689C>T (p.Gly563=) rs776917285 0.00001
NM_000466.3(PEX1):c.1695C>T (p.Ser565=) rs760925480 0.00001
NM_000466.3(PEX1):c.1767A>T (p.Gly589=) rs1364124177 0.00001
NM_000466.3(PEX1):c.1791C>T (p.Leu597=) rs1370887577 0.00001
NM_000466.3(PEX1):c.1804-16A>T rs1313790749 0.00001
NM_000466.3(PEX1):c.1901-8G>A rs1260085410 0.00001
NM_000466.3(PEX1):c.1980G>A (p.Leu660=) rs1486515280 0.00001
NM_000466.3(PEX1):c.1981C>T (p.Leu661=) rs1480419846 0.00001
NM_000466.3(PEX1):c.1986T>C (p.Asp662=) rs747406256 0.00001
NM_000466.3(PEX1):c.2072-6T>C rs761399118 0.00001
NM_000466.3(PEX1):c.2084T>C (p.Met695Thr) rs112747515 0.00001
NM_000466.3(PEX1):c.2226+8A>T rs772716358 0.00001
NM_000466.3(PEX1):c.2280T>C (p.Asp760=) rs749049962 0.00001
NM_000466.3(PEX1):c.2295C>T (p.Thr765=) rs376748473 0.00001
NM_000466.3(PEX1):c.2382T>C (p.Ser794=) rs1242105055 0.00001
NM_000466.3(PEX1):c.2392C>T (p.Arg798Cys) rs61750419 0.00001
NM_000466.3(PEX1):c.2416+10A>G rs762189230 0.00001
NM_000466.3(PEX1):c.2457C>T (p.Arg819=) rs779477506 0.00001
NM_000466.3(PEX1):c.2484T>C (p.Ser828=) rs759689915 0.00001
NM_000466.3(PEX1):c.2632C>T (p.Leu878=) rs766615075 0.00001
NM_000466.3(PEX1):c.2655A>G (p.Thr885=) rs759281351 0.00001
NM_000466.3(PEX1):c.267G>A (p.Gly89=) rs1323919866 0.00001
NM_000466.3(PEX1):c.2718+9T>A rs758628728 0.00001
NM_000466.3(PEX1):c.2719-18T>C rs772778880 0.00001
NM_000466.3(PEX1):c.2719-19C>G rs762582964 0.00001
NM_000466.3(PEX1):c.274-5T>C rs766795557 0.00001
NM_000466.3(PEX1):c.2742C>T (p.Tyr914=) rs779097376 0.00001
NM_000466.3(PEX1):c.2783+11T>A rs762637904 0.00001
NM_000466.3(PEX1):c.282C>G (p.Leu94=) rs201368809 0.00001
NM_000466.3(PEX1):c.357+14A>G rs1243475329 0.00001
NM_000466.3(PEX1):c.358-13C>G rs749180235 0.00001
NM_000466.3(PEX1):c.358-7G>T rs1286759742 0.00001
NM_000466.3(PEX1):c.393A>G (p.Leu131=) rs780791624 0.00001
NM_000466.3(PEX1):c.472+13G>A rs1792887180 0.00001
NM_000466.3(PEX1):c.498T>C (p.Tyr166=) rs1427788462 0.00001
NM_000466.3(PEX1):c.513T>C (p.Thr171=) rs1306750859 0.00001
NM_000466.3(PEX1):c.516C>T (p.Asp172=) rs776426017 0.00001
NM_000466.3(PEX1):c.579T>C (p.Asp193=) rs1562866985 0.00001
NM_000466.3(PEX1):c.609A>G (p.Gly203=) rs1421454418 0.00001
NM_000466.3(PEX1):c.651A>G (p.Gln217=) rs1476909174 0.00001
NM_000466.3(PEX1):c.693C>T (p.Asn231=) rs1463386429 0.00001
NM_000466.3(PEX1):c.789A>T (p.Thr263=) rs564163221 0.00001
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser) rs780119112 0.00001
NM_000466.3(PEX1):c.831G>A (p.Gln277=) rs1210178752 0.00001
NM_000466.3(PEX1):c.834A>T (p.Ser278=) rs1477748762 0.00001
NM_000466.3(PEX1):c.862A>C (p.Arg288=) rs754695892 0.00001
NM_000466.3(PEX1):c.867A>G (p.Val289=) rs1357434321 0.00001
NM_000466.3(PEX1):c.879A>G (p.Gln293=) rs989737484 0.00001
NM_000466.3(PEX1):c.894T>C (p.Tyr298=) rs1792856461 0.00001
NM_000466.3(PEX1):c.900G>A (p.Ala300=) rs372013709 0.00001
NM_000466.3(PEX1):c.1014A>G (p.Leu338=) rs764541484
NM_000466.3(PEX1):c.102T>A (p.Arg34=) rs2116298466
NM_000466.3(PEX1):c.1032G>A (p.Gln344=)
NM_000466.3(PEX1):c.1035A>G (p.Gln345=)
NM_000466.3(PEX1):c.1038T>C (p.Ser346=)
NM_000466.3(PEX1):c.1056G>A (p.Val352=) rs1348024001
NM_000466.3(PEX1):c.105C>G (p.Leu35=) rs975387176
NM_000466.3(PEX1):c.105C>T (p.Leu35=)
NM_000466.3(PEX1):c.1074G>A (p.Glu358=)
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn) rs138905930
NM_000466.3(PEX1):c.1086A>C (p.Ser362=)
NM_000466.3(PEX1):c.1092A>G (p.Pro364=) rs2116243378
NM_000466.3(PEX1):c.1116A>G (p.Ser372=)
NM_000466.3(PEX1):c.1125T>C (p.Asn375=) rs1585254314
NM_000466.3(PEX1):c.1142C>G (p.Ala381Gly)
NM_000466.3(PEX1):c.1152A>G (p.Leu384=) rs776933950
NM_000466.3(PEX1):c.1161C>A (p.Val387=)
NM_000466.3(PEX1):c.1170A>G (p.Gly390=)
NM_000466.3(PEX1):c.1180T>C (p.Leu394=) rs1202226565
NM_000466.3(PEX1):c.1185C>T (p.Asn395=)
NM_000466.3(PEX1):c.1218T>C (p.Val406=) rs2116242424
NM_000466.3(PEX1):c.1224T>C (p.His408=) rs745690908
NM_000466.3(PEX1):c.1230G>A (p.Gly410=) rs539382251
NM_000466.3(PEX1):c.1239+10A>C rs2116242233
NM_000466.3(PEX1):c.1239+10A>G
NM_000466.3(PEX1):c.1239+11A>G
NM_000466.3(PEX1):c.1239+11del rs764454264
NM_000466.3(PEX1):c.1239+17T>A
NM_000466.3(PEX1):c.1239+17T>C
NM_000466.3(PEX1):c.1239+8T>C
NM_000466.3(PEX1):c.1240-15A>G
NM_000466.3(PEX1):c.1240-19_1240-16del rs1218585650
NM_000466.3(PEX1):c.1240-20T>G rs1792604603
NM_000466.3(PEX1):c.1240-7A>C rs1226446593
NM_000466.3(PEX1):c.1245A>G (p.Pro415=)
NM_000466.3(PEX1):c.124C>T (p.Leu42=) rs2116298363
NM_000466.3(PEX1):c.1251C>T (p.Asp417=) rs1458830864
NM_000466.3(PEX1):c.1264C>T (p.Leu422=)
NM_000466.3(PEX1):c.1266A>C (p.Leu422=)
NM_000466.3(PEX1):c.1284C>A (p.Ala428=)
NM_000466.3(PEX1):c.129+10C>G rs886062508
NM_000466.3(PEX1):c.129+10C>T rs886062508
NM_000466.3(PEX1):c.129+11G>A
NM_000466.3(PEX1):c.129+13C>T
NM_000466.3(PEX1):c.129+16C>T
NM_000466.3(PEX1):c.129+17G>A
NM_000466.3(PEX1):c.129+18A>G
NM_000466.3(PEX1):c.129+7T>C rs765006313
NM_000466.3(PEX1):c.129+8G>A rs1793393956
NM_000466.3(PEX1):c.1290C>A (p.Val430=) rs1230907353
NM_000466.3(PEX1):c.1290C>G (p.Val430=) rs1230907353
NM_000466.3(PEX1):c.1290C>T (p.Val430=)
NM_000466.3(PEX1):c.130-10A>G
NM_000466.3(PEX1):c.130-15_130-7dup rs2116268826
NM_000466.3(PEX1):c.130-17A>G rs1206974534
NM_000466.3(PEX1):c.130-20C>G
NM_000466.3(PEX1):c.130-4A>G
NM_000466.3(PEX1):c.130-5A>C rs764946946
NM_000466.3(PEX1):c.130-7T>C
NM_000466.3(PEX1):c.1314C>T (p.Thr438=)
NM_000466.3(PEX1):c.1326A>G (p.Pro442=)
NM_000466.3(PEX1):c.1333C>T (p.Leu445=) rs1358993243
NM_000466.3(PEX1):c.1335A>G (p.Leu445=)
NM_000466.3(PEX1):c.1338G>A (p.Lys446=) rs543863652
NM_000466.3(PEX1):c.1347T>C (p.Pro449=) rs1476938711
NM_000466.3(PEX1):c.1347T>G (p.Pro449=) rs1476938711
NM_000466.3(PEX1):c.1359+11AT[3]
NM_000466.3(PEX1):c.1359+13A>G
NM_000466.3(PEX1):c.1359+14T>C
NM_000466.3(PEX1):c.1359+17A>G
NM_000466.3(PEX1):c.1360-4G>A rs199716270
NM_000466.3(PEX1):c.1360-5G>C rs2116209932
NM_000466.3(PEX1):c.1360-8T>C
NM_000466.3(PEX1):c.1365A>G (p.Lys455=) rs1792475306
NM_000466.3(PEX1):c.1377A>G (p.Glu459=)
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1401T>C (p.Tyr467=) rs1792473177
NM_000466.3(PEX1):c.1410A>G (p.Leu470=) rs1441446202
NM_000466.3(PEX1):c.1413G>A (p.Gln471=) rs1354951609
NM_000466.3(PEX1):c.141A>C (p.Ile47=)
NM_000466.3(PEX1):c.1422T>C (p.Thr474=) rs1792471058
NM_000466.3(PEX1):c.1428C>A (p.Thr476=)
NM_000466.3(PEX1):c.1428C>T (p.Thr476=)
NM_000466.3(PEX1):c.1434T>G (p.Leu478=) rs757668497
NM_000466.3(PEX1):c.1437T>A (p.Pro479=)
NM_000466.3(PEX1):c.1437T>G (p.Pro479=)
NM_000466.3(PEX1):c.1455A>G (p.Glu485=)
NM_000466.3(PEX1):c.1473A>G (p.Glu491=)
NM_000466.3(PEX1):c.1476T>G (p.Thr492=) rs1792468652
NM_000466.3(PEX1):c.1483+18T>A
NM_000466.3(PEX1):c.1483+18T>G
NM_000466.3(PEX1):c.1483+9A>C rs2116209200
NM_000466.3(PEX1):c.1483+9del
NM_000466.3(PEX1):c.1484-10T>G
NM_000466.3(PEX1):c.1484-11C>A
NM_000466.3(PEX1):c.1484-4A>T
NM_000466.3(PEX1):c.1484-7T>G
NM_000466.3(PEX1):c.1501C>T (p.Leu501=)
NM_000466.3(PEX1):c.1503G>C (p.Leu501=)
NM_000466.3(PEX1):c.1518T>C (p.Ser506=) rs756375656
NM_000466.3(PEX1):c.1524A>G (p.Glu508=) rs2116205422
NM_000466.3(PEX1):c.1539A>G (p.Lys513=)
NM_000466.3(PEX1):c.1552T>C (p.Leu518=) rs2116205269
NM_000466.3(PEX1):c.1554G>A (p.Leu518=)
NM_000466.3(PEX1):c.156T>C (p.Ser52=) rs1793079717
NM_000466.3(PEX1):c.1581A>C (p.Thr527=) rs2116205071
NM_000466.3(PEX1):c.1581A>G (p.Thr527=)
NM_000466.3(PEX1):c.1587+12T>C
NM_000466.3(PEX1):c.1587+15T>C
NM_000466.3(PEX1):c.1587+16T>C
NM_000466.3(PEX1):c.1587+8C>G rs2116204929
NM_000466.3(PEX1):c.1588-14C>T rs2116195353
NM_000466.3(PEX1):c.1588-16T>C
NM_000466.3(PEX1):c.1588-4G>A
NM_000466.3(PEX1):c.1590C>A (p.Val530=)
NM_000466.3(PEX1):c.1611A>G (p.Lys537=) rs1209882593
NM_000466.3(PEX1):c.1670+10T>C
NM_000466.3(PEX1):c.1670+10T>G
NM_000466.3(PEX1):c.1670+12T>C
NM_000466.3(PEX1):c.1670+16C>T
NM_000466.3(PEX1):c.1670+20C>G
NM_000466.3(PEX1):c.1671-11A>G
NM_000466.3(PEX1):c.1671-12T>C
NM_000466.3(PEX1):c.1671-15_1671-12del
NM_000466.3(PEX1):c.1671-17A>G
NM_000466.3(PEX1):c.1686A>G (p.Leu562=) rs2116181786
NM_000466.3(PEX1):c.168A>G (p.Ala56=)
NM_000466.3(PEX1):c.1698C>T (p.Ser566=) rs2116181641
NM_000466.3(PEX1):c.1704G>A (p.Glu568=) rs1792229068
NM_000466.3(PEX1):c.1707C>T (p.His569=)
NM_000466.3(PEX1):c.1713T>C (p.Thr571=)
NM_000466.3(PEX1):c.1716C>T (p.His572=) rs1792228135
NM_000466.3(PEX1):c.1719C>T (p.Ser573=) rs2116181405
NM_000466.3(PEX1):c.171C>T (p.Phe57=) rs2116268508
NM_000466.3(PEX1):c.1731C>A (p.Arg577=)
NM_000466.3(PEX1):c.1731C>G (p.Arg577=) rs2116181294
NM_000466.3(PEX1):c.1734T>A (p.Pro578=)
NM_000466.3(PEX1):c.1746G>A (p.Gln582=) rs750015247
NM_000466.3(PEX1):c.174G>A (p.Leu58=)
NM_000466.3(PEX1):c.1773G>A (p.Arg591=) rs2116180929
NM_000466.3(PEX1):c.1776T>C (p.Asn592=)
NM_000466.3(PEX1):c.177C>T (p.Ser59=)
NM_000466.3(PEX1):c.1791C>G (p.Leu597=)
NM_000466.3(PEX1):c.1800A>G (p.Gly600=)
NM_000466.3(PEX1):c.1803+14G>T
NM_000466.3(PEX1):c.1803+20T>G
NM_000466.3(PEX1):c.1804-12A>C
NM_000466.3(PEX1):c.1804-12A>G rs143041528
NM_000466.3(PEX1):c.1804-13A>C
NM_000466.3(PEX1):c.1804-15G>C
NM_000466.3(PEX1):c.1804-16A>G
NM_000466.3(PEX1):c.1804-7T>G rs1171558935
NM_000466.3(PEX1):c.1833A>C (p.Ala611=) rs2116176396
NM_000466.3(PEX1):c.1833A>G (p.Ala611=) rs2116176396
NM_000466.3(PEX1):c.1851T>C (p.Phe617=) rs762766482
NM_000466.3(PEX1):c.1857A>G (p.Lys619=) rs1393403749
NM_000466.3(PEX1):c.1869T>C (p.His623=)
NM_000466.3(PEX1):c.1878A>G (p.Arg626=) rs1792182837
NM_000466.3(PEX1):c.1884C>T (p.Asp628=) rs1345707685
NM_000466.3(PEX1):c.1900+10T>C
NM_000466.3(PEX1):c.1900+10T>G rs2116175750
NM_000466.3(PEX1):c.1900+12G>A
NM_000466.3(PEX1):c.1900+13dup
NM_000466.3(PEX1):c.1900+17_1900+20del
NM_000466.3(PEX1):c.1900+18C>T
NM_000466.3(PEX1):c.1901-14T>C rs1792111444
NM_000466.3(PEX1):c.1901-17A>G
NM_000466.3(PEX1):c.1901-4T>C rs2116166425
NM_000466.3(PEX1):c.1901-7T>C
NM_000466.3(PEX1):c.1929C>A (p.Thr643=) rs772780510
NM_000466.3(PEX1):c.1929C>T (p.Thr643=)
NM_000466.3(PEX1):c.1930C>T (p.Leu644=) rs1168758164
NM_000466.3(PEX1):c.1935G>A (p.Glu645=)
NM_000466.3(PEX1):c.1947A>G (p.Ser649=)
NM_000466.3(PEX1):c.1956G>A (p.Val652=)
NM_000466.3(PEX1):c.1968A>C (p.Pro656=)
NM_000466.3(PEX1):c.1977C>T (p.Val659=) rs2116165660
NM_000466.3(PEX1):c.1989C>T (p.Asp663=) rs2116165541
NM_000466.3(PEX1):c.198T>C (p.Phe66=)
NM_000466.3(PEX1):c.1992T>C (p.Leu664=)
NM_000466.3(PEX1):c.2007A>T (p.Gly669=)
NM_000466.3(PEX1):c.2010G>A (p.Leu670=) rs921615253
NM_000466.3(PEX1):c.2010G>C (p.Leu670=)
NM_000466.3(PEX1):c.2019C>A (p.Val673=) rs368345209
NM_000466.3(PEX1):c.2019C>T (p.Val673=) rs368345209
NM_000466.3(PEX1):c.2022G>A (p.Pro674=)
NM_000466.3(PEX1):c.2022G>C (p.Pro674=)
NM_000466.3(PEX1):c.2037T>C (p.Ser679=)
NM_000466.3(PEX1):c.2046G>C (p.Ala682=)
NM_000466.3(PEX1):c.2046G>T (p.Ala682=) rs144845259
NM_000466.3(PEX1):c.2049G>A (p.Val683=) rs769221282
NM_000466.3(PEX1):c.2059C>A (p.Arg687=) rs138008298
NM_000466.3(PEX1):c.2067T>G (p.Ala689=) rs2116164733
NM_000466.3(PEX1):c.2071+11C>T
NM_000466.3(PEX1):c.2071+12C>T
NM_000466.3(PEX1):c.2071+14C>A
NM_000466.3(PEX1):c.2071+14C>T
NM_000466.3(PEX1):c.2071+15C>T
NM_000466.3(PEX1):c.2071+17C>T
NM_000466.3(PEX1):c.2071+9A>G rs2116164620
NM_000466.3(PEX1):c.2072-18T>C
NM_000466.3(PEX1):c.2072-4C>T rs1792019918
NM_000466.3(PEX1):c.2072-8A>C rs2116156411
NM_000466.3(PEX1):c.2072-8A>G
NM_000466.3(PEX1):c.2094G>A (p.Glu698=) rs2116156123
NM_000466.3(PEX1):c.2115G>A (p.Leu705=)
NM_000466.3(PEX1):c.2122C>T (p.Leu708=)
NM_000466.3(PEX1):c.2148A>G (p.Gln716=) rs753358124
NM_000466.3(PEX1):c.2154A>T (p.Leu718=)
NM_000466.3(PEX1):c.2187C>T (p.His729=) rs915908576
NM_000466.3(PEX1):c.2199C>T (p.Cys733=)
NM_000466.3(PEX1):c.2202C>T (p.Val734=)
NM_000466.3(PEX1):c.2205A>G (p.Gln735=) rs201308230
NM_000466.3(PEX1):c.2208C>T (p.His736=) rs1411832129
NM_000466.3(PEX1):c.2220T>G (p.Pro740=) rs2116155243
NM_000466.3(PEX1):c.2226+12C>T
NM_000466.3(PEX1):c.2226+7C>A rs371347250
NM_000466.3(PEX1):c.2226+7C>T
NM_000466.3(PEX1):c.2226+8A>G rs772716358
NM_000466.3(PEX1):c.2226+9C>G rs2116155119
NM_000466.3(PEX1):c.2227-13T>G rs2116149539
NM_000466.3(PEX1):c.2227-14G>T rs1791958426
NM_000466.3(PEX1):c.2227-4T>C rs2116149447
NM_000466.3(PEX1):c.2227-4T>G
NM_000466.3(PEX1):c.2229A>G (p.Glu743=) rs2116149390
NM_000466.3(PEX1):c.2241A>G (p.Glu747=) rs2116149299
NM_000466.3(PEX1):c.2253T>C (p.Asn751=) rs769925670
NM_000466.3(PEX1):c.2256A>G (p.Val752=)
NM_000466.3(PEX1):c.2292C>T (p.Phe764=)
NM_000466.3(PEX1):c.2298T>C (p.Asp766=) rs1585231825
NM_000466.3(PEX1):c.2310G>A (p.Gln770=)
NM_000466.3(PEX1):c.2313T>C (p.His771=) rs763463570
NM_000466.3(PEX1):c.232A>C (p.Arg78=)
NM_000466.3(PEX1):c.2334G>A (p.Gly778=)
NM_000466.3(PEX1):c.2334G>T (p.Gly778=)
NM_000466.3(PEX1):c.2349T>C (p.Asp783=) rs2116148406
NM_000466.3(PEX1):c.2364G>A (p.Val788=)
NM_000466.3(PEX1):c.2397G>A (p.Gln799=)
NM_000466.3(PEX1):c.2409C>T (p.Thr803=) rs1585231525
NM_000466.3(PEX1):c.2412A>G (p.Arg804=) rs1362565257
NM_000466.3(PEX1):c.2416+13A>G
NM_000466.3(PEX1):c.2416+20C>A rs886038302
NM_000466.3(PEX1):c.2417-10T>A
NM_000466.3(PEX1):c.2417-16_2417-13del rs1350018099
NM_000466.3(PEX1):c.2417-20T>G
NM_000466.3(PEX1):c.2418A>G (p.Lys806=)
NM_000466.3(PEX1):c.2425T>C (p.Leu809=)
NM_000466.3(PEX1):c.2433A>G (p.Thr811=)
NM_000466.3(PEX1):c.2434T>C (p.Leu812=)
NM_000466.3(PEX1):c.2469T>G (p.Pro823=) rs1562853565
NM_000466.3(PEX1):c.2472G>A (p.Ala824=) rs764437476
NM_000466.3(PEX1):c.2490C>T (p.Asn830=)
NM_000466.3(PEX1):c.2491C>T (p.Leu831=) rs2116145518
NM_000466.3(PEX1):c.252T>C (p.Leu84=) rs774698687
NM_000466.3(PEX1):c.252T>G (p.Leu84=) rs774698687
NM_000466.3(PEX1):c.2532G>A (p.Gly844=)
NM_000466.3(PEX1):c.2533T>C (p.Leu845=) rs1585230931
NM_000466.3(PEX1):c.2538T>C (p.His846=) rs2116145185
NM_000466.3(PEX1):c.2541A>G (p.Glu847=) rs1585230922
NM_000466.3(PEX1):c.2550G>A (p.Gln850=) rs2116145108
NM_000466.3(PEX1):c.2553A>C (p.Ile851=) rs2116145089
NM_000466.3(PEX1):c.2556C>T (p.Leu852=)
NM_000466.3(PEX1):c.2565T>G (p.Thr855=) rs1472376635
NM_000466.3(PEX1):c.2583+12A>G
NM_000466.3(PEX1):c.2583+13A>T
NM_000466.3(PEX1):c.2583+14A>T
NM_000466.3(PEX1):c.2583+15A>C
NM_000466.3(PEX1):c.2583+20A>G
NM_000466.3(PEX1):c.2583+9A>T rs1007607739
NM_000466.3(PEX1):c.2584-10T>C rs375129444
NM_000466.3(PEX1):c.2584-11T>G rs1443608242
NM_000466.3(PEX1):c.2584-22_2584-19del rs2116133655
NM_000466.3(PEX1):c.2584-6del rs745621383
NM_000466.3(PEX1):c.2586T>C (p.Tyr862=) rs2116133214
NM_000466.3(PEX1):c.2589A>G (p.Pro863=) rs2116133200
NM_000466.3(PEX1):c.258C>G (p.Leu86=)
NM_000466.3(PEX1):c.258C>T (p.Leu86=)
NM_000466.3(PEX1):c.2604C>T (p.Asn868=)
NM_000466.3(PEX1):c.2614C>A (p.Arg872=) rs61750422
NM_000466.3(PEX1):c.2634G>A (p.Leu878=) rs1193232549
NM_000466.3(PEX1):c.2646G>C (p.Pro882=) rs775421085
NM_000466.3(PEX1):c.2646G>T (p.Pro882=) rs775421085
NM_000466.3(PEX1):c.2676G>A (p.Gly892=)
NM_000466.3(PEX1):c.2676G>C (p.Gly892=)
NM_000466.3(PEX1):c.2679A>G (p.Val893=)
NM_000466.3(PEX1):c.2706T>C (p.Phe902=) rs2116132336
NM_000466.3(PEX1):c.2712T>C (p.Ser904=)
NM_000466.3(PEX1):c.2718+10C>T
NM_000466.3(PEX1):c.2718+13_2718+16del rs772364058
NM_000466.3(PEX1):c.2719-14dup rs2116111355
NM_000466.3(PEX1):c.2719-15dup
NM_000466.3(PEX1):c.2719-17C>T rs916738277
NM_000466.3(PEX1):c.2719-18T>A
NM_000466.3(PEX1):c.2719-5A>G
NM_000466.3(PEX1):c.2719-6C>T rs2116111275
NM_000466.3(PEX1):c.2721G>A (p.Gly907=)
NM_000466.3(PEX1):c.2727G>A (p.Glu909=)
NM_000466.3(PEX1):c.273+10T>C rs1793073947
NM_000466.3(PEX1):c.273+11G>C
NM_000466.3(PEX1):c.273+20A>G
NM_000466.3(PEX1):c.273+4_273+7dup
NM_000466.3(PEX1):c.273+8C>A rs2116268020
NM_000466.3(PEX1):c.273+9A>G rs1585260775
NM_000466.3(PEX1):c.274-11A>T
NM_000466.3(PEX1):c.274-13T>G
NM_000466.3(PEX1):c.2766T>C (p.Val922=)
NM_000466.3(PEX1):c.2766T>G (p.Val922=) rs2116110796
NM_000466.3(PEX1):c.276A>T (p.Val92=)
NM_000466.3(PEX1):c.2772T>C (p.Asp924=)
NM_000466.3(PEX1):c.2783+10C>A rs766160850
NM_000466.3(PEX1):c.2783+18G>A
NM_000466.3(PEX1):c.2783+20T>G
NM_000466.3(PEX1):c.2783+7A>T rs1791669532
NM_000466.3(PEX1):c.2783+8G>A rs2116110600
NM_000466.3(PEX1):c.2783+9C>T
NM_000466.3(PEX1):c.285G>A (p.Lys95=)
NM_000466.3(PEX1):c.288A>G (p.Pro96=)
NM_000466.3(PEX1):c.303A>G (p.Val101=)
NM_000466.3(PEX1):c.309T>C (p.Cys103=) rs575737926
NM_000466.3(PEX1):c.333C>G (p.Leu111=) rs2116253163
NM_000466.3(PEX1):c.336A>G (p.Ser112=) rs1240957002
NM_000466.3(PEX1):c.345T>C (p.Asp115=)
NM_000466.3(PEX1):c.351G>A (p.Glu117=)
NM_000466.3(PEX1):c.355C>T (p.Leu119=) rs2116253059
NM_000466.3(PEX1):c.358-10T>C
NM_000466.3(PEX1):c.358-13C>A
NM_000466.3(PEX1):c.358-17_358-14del rs1174720123
NM_000466.3(PEX1):c.358-20_358-19inv
NM_000466.3(PEX1):c.358-8G>C rs1585256094
NM_000466.3(PEX1):c.363G>A (p.Leu121=) rs200866361
NM_000466.3(PEX1):c.366T>C (p.His122=)
NM_000466.3(PEX1):c.391C>T (p.Leu131=) rs2116249061
NM_000466.3(PEX1):c.393A>C (p.Leu131=) rs780791624
NM_000466.3(PEX1):c.396T>C (p.Asp132=) rs1225400009
NM_000466.3(PEX1):c.403C>A (p.Arg135=) rs201415996
NM_000466.3(PEX1):c.423C>A (p.Ala141=) rs2116248825
NM_000466.3(PEX1):c.453G>A (p.Thr151=) rs368714078
NM_000466.3(PEX1):c.453G>C (p.Thr151=) rs368714078
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.472+10A>C
NM_000466.3(PEX1):c.472+10A>G rs1792887415
NM_000466.3(PEX1):c.472+16A>G
NM_000466.3(PEX1):c.472+19T>C rs1792886894
NM_000466.3(PEX1):c.472+20T>A
NM_000466.3(PEX1):c.472+7G>A rs1017687646
NM_000466.3(PEX1):c.472+8C>T rs2116248438
NM_000466.3(PEX1):c.473-13A>C
NM_000466.3(PEX1):c.473-13dup
NM_000466.3(PEX1):c.473-14del rs1236657615
NM_000466.3(PEX1):c.473-16T>C
NM_000466.3(PEX1):c.473-7T>C rs1792881897
NM_000466.3(PEX1):c.477A>G (p.Ala159=) rs759628709
NM_000466.3(PEX1):c.478C>T (p.Leu160=)
NM_000466.3(PEX1):c.480A>G (p.Leu160=)
NM_000466.3(PEX1):c.489T>G (p.Ala163=) rs1269219461
NM_000466.3(PEX1):c.522A>G (p.Lys174=) rs2116247566
NM_000466.3(PEX1):c.540G>A (p.Lys180=) rs1418653170
NM_000466.3(PEX1):c.564A>G (p.Thr188=)
NM_000466.3(PEX1):c.564A>T (p.Thr188=) rs2116247151
NM_000466.3(PEX1):c.570A>G (p.Ser190=) rs977095522
NM_000466.3(PEX1):c.570A>T (p.Ser190=) rs977095522
NM_000466.3(PEX1):c.576T>G (p.Ala192=) rs1585255480
NM_000466.3(PEX1):c.621A>G (p.Lys207=)
NM_000466.3(PEX1):c.642A>G (p.Gln214=)
NM_000466.3(PEX1):c.645C>A (p.Thr215=) rs151041559
NM_000466.3(PEX1):c.648G>A (p.Lys216=) rs1289765250
NM_000466.3(PEX1):c.654T>C (p.Leu218=) rs2116246535
NM_000466.3(PEX1):c.660A>G (p.Ser220=) rs2116246458
NM_000466.3(PEX1):c.699A>G (p.Ser233=) rs2116246198
NM_000466.3(PEX1):c.705T>A (p.Ile235=)
NM_000466.3(PEX1):c.711T>A (p.Val237=) rs758443247
NM_000466.3(PEX1):c.717A>G (p.Ser239=) rs2116246138
NM_000466.3(PEX1):c.720A>G (p.Ser240=)
NM_000466.3(PEX1):c.723A>G (p.Ser241=) rs2116246060
NM_000466.3(PEX1):c.726A>G (p.Val242=)
NM_000466.3(PEX1):c.768A>G (p.Gln256=)
NM_000466.3(PEX1):c.777G>A (p.Lys259=)
NM_000466.3(PEX1):c.789A>G (p.Thr263=) rs564163221
NM_000466.3(PEX1):c.792T>C (p.Ser264=)
NM_000466.3(PEX1):c.810C>T (p.Ile270=) rs2116245536
NM_000466.3(PEX1):c.813T>C (p.Asn271=) rs1177803945
NM_000466.3(PEX1):c.816A>G (p.Ala272=) rs2116245440
NM_000466.3(PEX1):c.840T>C (p.Val280=)
NM_000466.3(PEX1):c.849A>G (p.Leu283=)
NM_000466.3(PEX1):c.882T>A (p.Pro294=)
NM_000466.3(PEX1):c.885T>C (p.Pro295=)
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser) rs751506204
NM_000466.3(PEX1):c.903A>T (p.Ser301=) rs2116244706
NM_000466.3(PEX1):c.906A>C (p.Ala302=) rs2116244665
NM_000466.3(PEX1):c.90C>T (p.His30=)
NM_000466.3(PEX1):c.933C>T (p.Ala311=)
NM_000466.3(PEX1):c.942A>G (p.Val314=)
NM_000466.3(PEX1):c.948A>G (p.Pro316=) rs780966702
NM_000466.3(PEX1):c.969T>C (p.Asp323=) rs2116244121
NM_000466.3(PEX1):c.96G>A (p.Pro32=) rs1445565547
NM_000466.3(PEX1):c.978C>T (p.Pro326=)
NM_000466.3(PEX1):c.984T>C (p.Phe328=)
NM_000466.3(PEX1):c.996T>C (p.Tyr332=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.