ClinVar Miner

List of variants reported as uncertain significance for Peroxisome biogenesis disorder 2B

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 338
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HGVS dbSNP gnomAD frequency
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) rs146567534 0.00047
NM_001351132.2(PEX5):c.590C>T (p.Thr197Met) rs144897942 0.00029
NM_001351132.2(PEX5):c.452C>G (p.Pro151Arg) rs200720523 0.00022
NM_001351132.2(PEX5):c.316+3G>A rs200776790 0.00017
NM_001351132.2(PEX5):c.670G>A (p.Glu224Lys) rs767347186 0.00016
NM_001351132.2(PEX5):c.371C>G (p.Ala124Gly) rs143307183 0.00015
NM_001351132.2(PEX5):c.1395C>A (p.Asp465Glu) rs772561166 0.00014
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser) rs139364109 0.00013
NM_001351132.2(PEX5):c.1897A>C (p.Thr633Pro) rs200471952 0.00013
NM_001351132.2(PEX5):c.1439G>A (p.Arg480Gln) rs759523235 0.00011
NM_001351132.2(PEX5):c.1522G>A (p.Val508Met) rs138028549 0.00011
NM_001351132.2(PEX5):c.496C>G (p.Gln166Glu) rs751043763 0.00011
NM_001351132.2(PEX5):c.680T>C (p.Val227Ala) rs777842778 0.00011
NM_001351132.2(PEX5):c.966+3G>A rs373763823 0.00011
NM_001351132.2(PEX5):c.195A>C (p.Glu65Asp) rs147730752 0.00010
NM_001351132.2(PEX5):c.1636C>T (p.Arg546Cys) rs759334733 0.00009
NM_001351132.2(PEX5):c.610A>G (p.Lys204Glu) rs149289353 0.00009
NM_001351132.2(PEX5):c.472C>T (p.Arg158Cys) rs747679909 0.00008
NM_001351132.2(PEX5):c.642+6C>T rs376779359 0.00008
NM_001351132.2(PEX5):c.655G>A (p.Val219Met) rs144508802 0.00008
NM_001351132.2(PEX5):c.659G>A (p.Arg220Gln) rs148417349 0.00008
NM_001351132.2(PEX5):c.1030C>T (p.Arg344Trp) rs145762725 0.00007
NM_001351132.2(PEX5):c.1435G>C (p.Val479Leu) rs751226125 0.00007
NM_001351132.2(PEX5):c.356C>T (p.Ala119Val) rs745341735 0.00007
NM_001351132.2(PEX5):c.1381T>A (p.Ser461Thr) rs369698308 0.00006
NM_001351132.2(PEX5):c.1873G>A (p.Ala625Thr) rs143600154 0.00006
NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile) rs145886418 0.00006
NM_001351132.2(PEX5):c.230G>A (p.Arg77His) rs780957318 0.00006
NM_001351132.2(PEX5):c.421T>G (p.Ser141Ala) rs200475014 0.00006
NM_001351132.2(PEX5):c.1273A>G (p.Thr425Ala) rs141202824 0.00005
NM_001351132.2(PEX5):c.1549G>A (p.Val517Ile) rs201596535 0.00005
NM_001351132.2(PEX5):c.1777C>T (p.Arg593Trp) rs144333076 0.00005
NM_001351132.2(PEX5):c.966+5G>A rs199705127 0.00005
NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys) rs199822160 0.00004
NM_001351132.2(PEX5):c.1280G>A (p.Arg427Gln) rs774915360 0.00004
NM_001351132.2(PEX5):c.1352G>A (p.Gly451Glu) rs148266027 0.00004
NM_001351132.2(PEX5):c.1640G>A (p.Arg547Gln) rs371462892 0.00004
NM_001351132.2(PEX5):c.1768C>T (p.Arg590Trp) rs139347001 0.00004
NM_001351132.2(PEX5):c.1823G>A (p.Arg608His) rs201158549 0.00004
NM_001351132.2(PEX5):c.1874C>T (p.Ala625Val) rs773854263 0.00004
NM_001351132.2(PEX5):c.415G>C (p.Asp139His) rs375689941 0.00004
NM_001351132.2(PEX5):c.455T>G (p.Leu152Trp) rs370913045 0.00004
NM_001351132.2(PEX5):c.550T>C (p.Trp184Arg) rs998840500 0.00004
NM_001351132.2(PEX5):c.1333G>C (p.Glu445Gln) rs1405389869 0.00003
NM_001351132.2(PEX5):c.1493T>G (p.Phe498Cys) rs772579298 0.00003
NM_001351132.2(PEX5):c.1637G>A (p.Arg546His) rs375588538 0.00003
NM_001351132.2(PEX5):c.1858T>C (p.Tyr620His) rs141242661 0.00003
NM_001351132.2(PEX5):c.1876C>T (p.Arg626Trp) rs148040746 0.00003
NM_001351132.2(PEX5):c.473G>A (p.Arg158His) rs140456601 0.00003
NM_001351132.2(PEX5):c.552-3C>T rs368653314 0.00003
NM_001351132.2(PEX5):c.115C>G (p.Pro39Ala) rs751937990 0.00002
NM_001351132.2(PEX5):c.1211C>T (p.Thr404Ile) rs751774861 0.00002
NM_001351132.2(PEX5):c.1259G>A (p.Arg420Gln) rs765532002 0.00002
NM_001351132.2(PEX5):c.1365C>A (p.Ser455Arg) rs1383386030 0.00002
NM_001351132.2(PEX5):c.1369C>T (p.Arg457Cys) rs199544306 0.00002
NM_001351132.2(PEX5):c.155A>G (p.Lys52Arg) rs764700965 0.00002
NM_001351132.2(PEX5):c.1607A>G (p.Asn536Ser) rs749417845 0.00002
NM_001351132.2(PEX5):c.164G>T (p.Gly55Val) rs752097814 0.00002
NM_001351132.2(PEX5):c.1769G>A (p.Arg590Gln) rs779049461 0.00002
NM_001351132.2(PEX5):c.1837A>G (p.Met613Val) rs765623850 0.00002
NM_001351132.2(PEX5):c.1900A>G (p.Met634Val) rs766669738 0.00002
NM_001351132.2(PEX5):c.273G>T (p.Met91Ile) rs761240813 0.00002
NM_001351132.2(PEX5):c.299G>A (p.Arg100His) rs757108771 0.00002
NM_001351132.2(PEX5):c.406A>G (p.Asn136Asp) rs766587819 0.00002
NM_001351132.2(PEX5):c.523G>A (p.Glu175Lys) rs1259114034 0.00002
NM_001351132.2(PEX5):c.527C>T (p.Pro176Leu) rs145613325 0.00002
NM_001351132.2(PEX5):c.664A>G (p.Ile222Val) rs778800705 0.00002
NM_001351132.2(PEX5):c.689A>C (p.Glu230Ala) rs140292053 0.00002
NM_001351132.2(PEX5):c.704C>T (p.Ser235Leu) rs752922748 0.00002
NM_001351132.2(PEX5):c.718G>C (p.Ala240Pro) rs778767381 0.00002
NM_001351132.2(PEX5):c.83A>G (p.Lys28Arg) rs759345862 0.00002
NM_001351132.2(PEX5):c.901C>T (p.Arg301Trp) rs767306549 0.00002
NM_001351132.2(PEX5):c.920C>T (p.Pro307Leu) rs1159586988 0.00002
NM_001351132.2(PEX5):c.1031G>A (p.Arg344Gln) rs892031813 0.00001
NM_001351132.2(PEX5):c.1044G>T (p.Glu348Asp) rs746001175 0.00001
NM_001351132.2(PEX5):c.1052T>C (p.Leu351Pro) rs1220028381 0.00001
NM_001351132.2(PEX5):c.1057A>G (p.Asn353Asp) rs971400240 0.00001
NM_001351132.2(PEX5):c.1097C>T (p.Pro366Leu) rs764934631 0.00001
NM_001351132.2(PEX5):c.1111-12A>G rs371599161 0.00001
NM_001351132.2(PEX5):c.121C>T (p.Pro41Ser) rs781410836 0.00001
NM_001351132.2(PEX5):c.1223C>T (p.Ala408Val) rs1218031120 0.00001
NM_001351132.2(PEX5):c.1291C>T (p.Arg431Trp) rs765682048 0.00001
NM_001351132.2(PEX5):c.1292G>A (p.Arg431Gln) rs144901507 0.00001
NM_001351132.2(PEX5):c.131C>G (p.Ala44Gly) rs372992555 0.00001
NM_001351132.2(PEX5):c.1357G>A (p.Gly453Ser) rs1190413911 0.00001
NM_001351132.2(PEX5):c.1370G>A (p.Arg457His) rs758827048 0.00001
NM_001351132.2(PEX5):c.1375C>G (p.Leu459Val) rs375947901 0.00001
NM_001351132.2(PEX5):c.1430C>A (p.Ala477Glu) rs779806201 0.00001
NM_001351132.2(PEX5):c.149C>T (p.Ala50Val) rs1311355339 0.00001
NM_001351132.2(PEX5):c.1513G>A (p.Asp505Asn) rs775935095 0.00001
NM_001351132.2(PEX5):c.1560T>C (p.Asn520=) rs140330381 0.00001
NM_001351132.2(PEX5):c.1639C>T (p.Arg547Trp) rs760402644 0.00001
NM_001351132.2(PEX5):c.1664A>G (p.Tyr555Cys) rs1169699895 0.00001
NM_001351132.2(PEX5):c.1669C>T (p.Arg557Trp) rs1281539463 0.00001
NM_001351132.2(PEX5):c.1718+6A>C rs764840661 0.00001
NM_001351132.2(PEX5):c.1718G>A (p.Arg573Gln) rs776481733 0.00001
NM_001351132.2(PEX5):c.1790G>A (p.Gly597Asp) rs772805558 0.00001
NM_001351132.2(PEX5):c.17T>C (p.Leu6Pro) rs1245227342 0.00001
NM_001351132.2(PEX5):c.1822C>T (p.Arg608Cys) rs372635542 0.00001
NM_001351132.2(PEX5):c.1831T>G (p.Leu611Val) rs200266963 0.00001
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn) rs201963167 0.00001
NM_001351132.2(PEX5):c.1877G>A (p.Arg626Gln) rs762252851 0.00001
NM_001351132.2(PEX5):c.205G>A (p.Asp69Asn) rs1941048067 0.00001
NM_001351132.2(PEX5):c.241A>T (p.Thr81Ser) rs769373976 0.00001
NM_001351132.2(PEX5):c.28G>A (p.Glu10Lys) rs747725502 0.00001
NM_001351132.2(PEX5):c.292A>G (p.Asn98Asp) rs374327439 0.00001
NM_001351132.2(PEX5):c.34G>A (p.Gly12Arg) rs398123571 0.00001
NM_001351132.2(PEX5):c.351C>G (p.Asn117Lys) rs1354610463 0.00001
NM_001351132.2(PEX5):c.368T>C (p.Leu123Pro) rs777324636 0.00001
NM_001351132.2(PEX5):c.38G>T (p.Gly13Val) rs1940802625 0.00001
NM_001351132.2(PEX5):c.41C>T (p.Ala14Val) rs768332537 0.00001
NM_001351132.2(PEX5):c.431T>G (p.Phe144Cys) rs1175995959 0.00001
NM_001351132.2(PEX5):c.547C>T (p.Arg183Cys) rs746104983 0.00001
NM_001351132.2(PEX5):c.548G>A (p.Arg183His) rs772215584 0.00001
NM_001351132.2(PEX5):c.568C>T (p.Pro190Ser) rs1410451415 0.00001
NM_001351132.2(PEX5):c.620A>G (p.Asp207Gly) rs1011160954 0.00001
NM_001351132.2(PEX5):c.667G>A (p.Gly223Ser) rs771879452 0.00001
NM_001351132.2(PEX5):c.750G>C (p.Gln250His) rs1239267747 0.00001
NM_001351132.2(PEX5):c.758C>T (p.Thr253Ile) rs747765156 0.00001
NM_001351132.2(PEX5):c.78G>C (p.Gln26His) rs1940818656 0.00001
NM_001351132.2(PEX5):c.800C>T (p.Thr267Ile) rs759083753 0.00001
NM_001351132.2(PEX5):c.92G>A (p.Arg31Gln) rs190526209 0.00001
NM_001351132.2(PEX5):c.965A>T (p.Lys322Met) rs770028664 0.00001
NM_001351132.2(PEX5):c.967-3dup rs777815209 0.00001
NM_001351132.2(PEX5):c.991C>T (p.Pro331Ser) rs1311867918 0.00001
NM_001351132.2(PEX5):c.997C>T (p.Arg333Cys) rs756565648 0.00001
NC_000012.11:g.(?_6438458)_(7362839_?)dup
NC_000012.11:g.(?_6978008)_(9010204_?)dup
NC_000012.11:g.(?_7342974)_(7362819_?)dup
NM_000033.4(ABCD1):c.664G>A (p.Val222Met)
NM_001351132.2(PEX5):c.1037T>C (p.Leu346Pro) rs2136227054
NM_001351132.2(PEX5):c.1048G>A (p.Asp350Asn)
NM_001351132.2(PEX5):c.1061C>G (p.Ala354Gly)
NM_001351132.2(PEX5):c.107G>A (p.Arg36Lys) rs2135878731
NM_001351132.2(PEX5):c.107G>C (p.Arg36Thr) rs2135878731
NM_001351132.2(PEX5):c.1082C>G (p.Ala361Gly)
NM_001351132.2(PEX5):c.1092G>C (p.Gln364His)
NM_001351132.2(PEX5):c.1110+5G>A rs2136228030
NM_001351132.2(PEX5):c.1132A>G (p.Thr378Ala) rs2136230585
NM_001351132.2(PEX5):c.113G>T (p.Gly38Val)
NM_001351132.2(PEX5):c.1145A>G (p.Asn382Ser) rs2136230724
NM_001351132.2(PEX5):c.1151A>G (p.Gln384Arg) rs2136230787
NM_001351132.2(PEX5):c.115C>T (p.Pro39Ser) rs751937990
NM_001351132.2(PEX5):c.1166_1168dup (p.Ile389dup) rs774781585
NM_001351132.2(PEX5):c.1177C>T (p.Arg393Trp)
NM_001351132.2(PEX5):c.1181+4A>G rs2136231209
NM_001351132.2(PEX5):c.1182G>A (p.Arg394=) rs199624284
NM_001351132.2(PEX5):c.1182G>T (p.Arg394Ser) rs199624284
NM_001351132.2(PEX5):c.1198C>T (p.Pro400Ser)
NM_001351132.2(PEX5):c.1201G>A (p.Asp401Asn) rs1945098580
NM_001351132.2(PEX5):c.1202A>G (p.Asp401Gly)
NM_001351132.2(PEX5):c.120G>C (p.Trp40Cys) rs2135879116
NM_001351132.2(PEX5):c.121C>A (p.Pro41Thr) rs781410836
NM_001351132.2(PEX5):c.1229C>T (p.Ala410Val)
NM_001351132.2(PEX5):c.122C>A (p.Pro41His) rs772786048
NM_001351132.2(PEX5):c.122C>T (p.Pro41Leu) rs772786048
NM_001351132.2(PEX5):c.1241C>T (p.Thr414Ile) rs1458919607
NM_001351132.2(PEX5):c.1246G>A (p.Glu416Lys) rs1945105117
NM_001351132.2(PEX5):c.124C>G (p.Pro42Ala) rs2135879394
NM_001351132.2(PEX5):c.1252C>A (p.Leu418Met) rs2136236124
NM_001351132.2(PEX5):c.125C>G (p.Pro42Arg)
NM_001351132.2(PEX5):c.1265C>T (p.Ala422Val) rs1945109944
NM_001351132.2(PEX5):c.1267T>C (p.Cys423Arg) rs2136236516
NM_001351132.2(PEX5):c.1280G>T (p.Arg427Leu) rs774915360
NM_001351132.2(PEX5):c.1282G>A (p.Asp428Asn)
NM_001351132.2(PEX5):c.1289T>C (p.Leu430Pro)
NM_001351132.2(PEX5):c.1312C>T (p.His438Tyr) rs2136237273
NM_001351132.2(PEX5):c.1315C>A (p.Leu439Met) rs756242143
NM_001351132.2(PEX5):c.131C>T (p.Ala44Val) rs372992555
NM_001351132.2(PEX5):c.1321A>G (p.Thr441Ala) rs2136237401
NM_001351132.2(PEX5):c.1322C>T (p.Thr441Ile) rs777898843
NM_001351132.2(PEX5):c.133C>T (p.Pro45Ser) rs1379216235
NM_001351132.2(PEX5):c.134C>T (p.Pro45Leu) rs145649593
NM_001351132.2(PEX5):c.1364G>A (p.Ser455Asn)
NM_001351132.2(PEX5):c.1384C>G (p.Leu462Val) rs774709242
NM_001351132.2(PEX5):c.1384C>T (p.Leu462Phe) rs774709242
NM_001351132.2(PEX5):c.1388T>C (p.Leu463Ser) rs2136238274
NM_001351132.2(PEX5):c.1391C>T (p.Ser464Phe)
NM_001351132.2(PEX5):c.1395C>T (p.Asp465=)
NM_001351132.2(PEX5):c.1419G>T (p.Glu473Asp) rs1945181377
NM_001351132.2(PEX5):c.1438C>T (p.Arg480Trp)
NM_001351132.2(PEX5):c.1462C>A (p.Pro488Thr)
NM_001351132.2(PEX5):c.1462C>G (p.Pro488Ala)
NM_001351132.2(PEX5):c.147+6T>C rs2135881175
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001351132.2(PEX5):c.148-18T>C
NM_001351132.2(PEX5):c.148-20T>G
NM_001351132.2(PEX5):c.1489C>A (p.Leu497Ile) rs2136243573
NM_001351132.2(PEX5):c.1513G>C (p.Asp505His)
NM_001351132.2(PEX5):c.1528T>A (p.Cys510Ser) rs1945199025
NM_001351132.2(PEX5):c.1543C>G (p.Leu515Val) rs370984432
NM_001351132.2(PEX5):c.1552C>T (p.Arg518Cys) rs182028506
NM_001351132.2(PEX5):c.1553G>A (p.Arg518His) rs146183061
NM_001351132.2(PEX5):c.1560+6C>T rs1945208210
NM_001351132.2(PEX5):c.1561-3C>T
NM_001351132.2(PEX5):c.1565A>G (p.Tyr522Cys) rs1205322300
NM_001351132.2(PEX5):c.1582C>G (p.Leu528Val)
NM_001351132.2(PEX5):c.1588G>A (p.Ala530Thr) rs1591804566
NM_001351132.2(PEX5):c.1592C>A (p.Thr531Asn) rs1945293420
NM_001351132.2(PEX5):c.1610A>G (p.Gln537Arg)
NM_001351132.2(PEX5):c.1611G>C (p.Gln537His)
NM_001351132.2(PEX5):c.1618G>A (p.Glu540Lys) rs977141805
NM_001351132.2(PEX5):c.1619A>G (p.Glu540Gly) rs1460981277
NM_001351132.2(PEX5):c.1620A>C (p.Glu540Asp)
NM_001351132.2(PEX5):c.1631C>T (p.Ala544Val)
NM_001351132.2(PEX5):c.1651C>T (p.Leu551Phe) rs2136256584
NM_001351132.2(PEX5):c.1656G>T (p.Gln552His)
NM_001351132.2(PEX5):c.1660G>A (p.Gly554Ser)
NM_001351132.2(PEX5):c.1670G>A (p.Arg557Gln)
NM_001351132.2(PEX5):c.1675C>T (p.Arg559Cys)
NM_001351132.2(PEX5):c.1679A>G (p.Tyr560Cys)
NM_001351132.2(PEX5):c.1684C>G (p.Leu562Val) rs1945310790
NM_001351132.2(PEX5):c.1687G>T (p.Gly563Cys)
NM_001351132.2(PEX5):c.1690A>G (p.Ile564Val) rs778897851
NM_001351132.2(PEX5):c.1691T>C (p.Ile564Thr) rs1945312349
NM_001351132.2(PEX5):c.1708G>A (p.Gly570Arg)
NM_001351132.2(PEX5):c.170C>T (p.Ala57Val)
NM_001351132.2(PEX5):c.1717C>T (p.Arg573Trp)
NM_001351132.2(PEX5):c.1718+5G>A rs1085307998
NM_001351132.2(PEX5):c.1744G>T (p.Ala582Ser) rs2136263113
NM_001351132.2(PEX5):c.1769G>C (p.Arg590Pro)
NM_001351132.2(PEX5):c.1778G>C (p.Arg593Pro)
NM_001351132.2(PEX5):c.1799C>T (p.Ser600Leu) rs748956654
NM_001351132.2(PEX5):c.1811G>A (p.Trp604Ter)
NM_001351132.2(PEX5):c.1819C>G (p.Leu607Val) rs1945371383
NM_001351132.2(PEX5):c.182A>G (p.Glu61Gly)
NM_001351132.2(PEX5):c.183+4A>G rs2135890266
NM_001351132.2(PEX5):c.183+6T>G rs1296968716
NM_001351132.2(PEX5):c.1835C>G (p.Ser612Cys)
NM_001351132.2(PEX5):c.1839G>A (p.Met613Ile) rs750620715
NM_001351132.2(PEX5):c.183G>A (p.Glu61=)
NM_001351132.2(PEX5):c.1850G>C (p.Ser617Thr) rs751637149
NM_001351132.2(PEX5):c.1850G>T (p.Ser617Ile) rs751637149
NM_001351132.2(PEX5):c.1852G>A (p.Asp618Asn)
NM_001351132.2(PEX5):c.1859A>G (p.Tyr620Cys) rs2136266140
NM_001351132.2(PEX5):c.1866_1868del (p.Ala623del)
NM_001351132.2(PEX5):c.1874C>A (p.Ala625Glu)
NM_001351132.2(PEX5):c.1877_1915dup (p.Pro638_Gln639insArgAspLeuSerThrLeuLeuThrMetPheGlyLeuPro)
NM_001351132.2(PEX5):c.1897_1900del (p.Thr633fs) rs1183517073
NM_001351132.2(PEX5):c.1901T>G (p.Met634Arg) rs751798701
NM_001351132.2(PEX5):c.1903_1906del (p.Phe635fs)
NM_001351132.2(PEX5):c.1913C>G (p.Pro638Arg) rs138706552
NM_001351132.2(PEX5):c.1913C>T (p.Pro638Leu) rs138706552
NM_001351132.2(PEX5):c.1917G>C (p.Gln639His) rs1271426444
NM_001351132.2(PEX5):c.196T>C (p.Phe66Leu) rs757539708
NM_001351132.2(PEX5):c.1A>G (p.Met1Val) rs2135875571
NM_001351132.2(PEX5):c.206A>C (p.Asp69Ala) rs2135896856
NM_001351132.2(PEX5):c.20T>C (p.Val7Ala)
NM_001351132.2(PEX5):c.218C>G (p.Pro73Arg)
NM_001351132.2(PEX5):c.224T>C (p.Val75Ala) rs1941053816
NM_001351132.2(PEX5):c.229C>T (p.Arg77Cys) rs768373250
NM_001351132.2(PEX5):c.230G>C (p.Arg77Pro)
NM_001351132.2(PEX5):c.232G>A (p.Ala78Thr)
NM_001351132.2(PEX5):c.237T>G (p.Pro79=)
NM_001351132.2(PEX5):c.241A>G (p.Thr81Ala)
NM_001351132.2(PEX5):c.242C>T (p.Thr81Ile)
NM_001351132.2(PEX5):c.24G>T (p.Glu8Asp) rs1488661702
NM_001351132.2(PEX5):c.254A>G (p.Asp85Gly) rs768652769
NM_001351132.2(PEX5):c.257A>T (p.Asp86Val)
NM_001351132.2(PEX5):c.266C>T (p.Ala89Val)
NM_001351132.2(PEX5):c.287A>G (p.Gln96Arg)
NM_001351132.2(PEX5):c.28G>C (p.Glu10Gln) rs747725502
NM_001351132.2(PEX5):c.292A>C (p.Asn98His) rs374327439
NM_001351132.2(PEX5):c.297C>A (p.Phe99Leu) rs573650362
NM_001351132.2(PEX5):c.315A>C (p.Arg105Ser) rs2135899269
NM_001351132.2(PEX5):c.317-19TC[4]
NM_001351132.2(PEX5):c.32G>A (p.Cys11Tyr)
NM_001351132.2(PEX5):c.359A>G (p.Gln120Arg) rs1347906263
NM_001351132.2(PEX5):c.37G>A (p.Gly13Ser)
NM_001351132.2(PEX5):c.37G>C (p.Gly13Arg)
NM_001351132.2(PEX5):c.391G>T (p.Val131Leu)
NM_001351132.2(PEX5):c.404A>G (p.Tyr135Cys) rs1385787688
NM_001351132.2(PEX5):c.404A>T (p.Tyr135Phe) rs1385787688
NM_001351132.2(PEX5):c.417C>G (p.Asp139Glu)
NM_001351132.2(PEX5):c.437C>T (p.Ser146Phe)
NM_001351132.2(PEX5):c.44A>G (p.Asn15Ser) rs951795989
NM_001351132.2(PEX5):c.451C>T (p.Pro151Ser)
NM_001351132.2(PEX5):c.452C>T (p.Pro151Leu) rs200720523
NM_001351132.2(PEX5):c.464C>G (p.Ser155Cys) rs1943231620
NM_001351132.2(PEX5):c.466C>G (p.Pro156Ala) rs2136074053
NM_001351132.2(PEX5):c.502GAG[1] (p.Glu169del) rs773404109
NM_001351132.2(PEX5):c.505G>C (p.Glu169Gln) rs1565693412
NM_001351132.2(PEX5):c.508_510del (p.Lys170del)
NM_001351132.2(PEX5):c.517C>A (p.Leu173Met) rs1943245558
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu) rs749729761
NM_001351132.2(PEX5):c.536C>T (p.Thr179Ile) rs2136075556
NM_001351132.2(PEX5):c.544G>A (p.Asp182Asn)
NM_001351132.2(PEX5):c.547C>A (p.Arg183Ser) rs746104983
NM_001351132.2(PEX5):c.551G>C (p.Trp184Ser)
NM_001351132.2(PEX5):c.556G>T (p.Asp186Tyr)
NM_001351132.2(PEX5):c.569C>T (p.Pro190Leu) rs2136143100
NM_001351132.2(PEX5):c.579T>A (p.Asp193Glu)
NM_001351132.2(PEX5):c.596G>A (p.Ser199Asn) rs750906889
NM_001351132.2(PEX5):c.620A>T (p.Asp207Val) rs1011160954
NM_001351132.2(PEX5):c.626A>G (p.Lys209Arg) rs748132358
NM_001351132.2(PEX5):c.62C>T (p.Ala21Val)
NM_001351132.2(PEX5):c.645C>A (p.Phe215Leu) rs1944168456
NM_001351132.2(PEX5):c.654C>G (p.Phe218Leu)
NM_001351132.2(PEX5):c.692C>G (p.Ser231Cys)
NM_001351132.2(PEX5):c.693C>A (p.Ser231=)
NM_001351132.2(PEX5):c.694G>A (p.Gly232Ser)
NM_001351132.2(PEX5):c.695G>A (p.Gly232Asp)
NM_001351132.2(PEX5):c.698C>T (p.Ala233Val) rs2136152339
NM_001351132.2(PEX5):c.706G>C (p.Gly236Arg) rs2136152526
NM_001351132.2(PEX5):c.710G>A (p.Arg237Gln) rs1011369978
NM_001351132.2(PEX5):c.712G>T (p.Ala238Ser)
NM_001351132.2(PEX5):c.733G>A (p.Ala245Thr)
NM_001351132.2(PEX5):c.745C>G (p.Gln249Glu) rs1442020873
NM_001351132.2(PEX5):c.755G>A (p.Gly252Asp) rs1234343542
NM_001351132.2(PEX5):c.793G>A (p.Val265Ile) rs776020873
NM_001351132.2(PEX5):c.799A>T (p.Thr267Ser) rs1445974761
NM_001351132.2(PEX5):c.79G>T (p.Asp27Tyr) rs1940819292
NM_001351132.2(PEX5):c.808C>T (p.Leu270Phe) rs2136158729
NM_001351132.2(PEX5):c.80A>G (p.Asp27Gly) rs2135877981
NM_001351132.2(PEX5):c.822T>A (p.Phe274Leu)
NM_001351132.2(PEX5):c.845A>C (p.Glu282Ala)
NM_001351132.2(PEX5):c.846+5G>A
NM_001351132.2(PEX5):c.846G>T (p.Glu282Asp) rs2136159660
NM_001351132.2(PEX5):c.848C>G (p.Ser283Cys) rs370010815
NM_001351132.2(PEX5):c.848C>T (p.Ser283Phe) rs370010815
NM_001351132.2(PEX5):c.856G>A (p.Asp286Asn) rs1246877750
NM_001351132.2(PEX5):c.878C>G (p.Ala293Gly) rs1216991743
NM_001351132.2(PEX5):c.893T>C (p.Met298Thr)
NM_001351132.2(PEX5):c.901C>G (p.Arg301Gly) rs767306549
NM_001351132.2(PEX5):c.902G>A (p.Arg301Gln) rs2136175132
NM_001351132.2(PEX5):c.919C>T (p.Pro307Ser)
NM_001351132.2(PEX5):c.91C>T (p.Arg31Trp) rs767406855
NM_001351132.2(PEX5):c.933C>G (p.Asp311Glu) rs1446059699
NM_001351132.2(PEX5):c.947C>T (p.Thr316Met) rs747529713
NM_001351132.2(PEX5):c.956C>A (p.Thr319Asn) rs1310273629
NM_001351132.2(PEX5):c.961_963del (p.Asp321del) rs1256295273
NM_001351132.2(PEX5):c.965A>G (p.Lys322Arg) rs770028664
NM_001351132.2(PEX5):c.967G>C (p.Gly323Arg)
NM_001351132.2(PEX5):c.973C>G (p.Gln325Glu) rs1369524555
NM_001351132.2(PEX5):c.979GAG[2] (p.Glu329del)
NM_001351132.2(PEX5):c.992C>G (p.Pro331Arg)
NM_001351132.2(PEX5):c.998G>T (p.Arg333Leu) rs59209175
NM_001351132.2(PEX5):c.99G>C (p.Glu33Asp)

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