ClinVar Miner

List of variants in gene PEX6 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 543
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712 0.00122
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_000287.4(PEX6):c.1234-11A>G rs201879957 0.00041
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val) rs146416679 0.00039
NM_000287.4(PEX6):c.*343G>C rs117055658 0.00037
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu) rs200026148 0.00037
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser) rs138621982 0.00030
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855 0.00029
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104 0.00029
NM_000287.4(PEX6):c.1884+3G>A rs377041406 0.00026
NM_000287.3(PEX6):c.-79C>T rs186587060 0.00024
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031 0.00024
NM_000287.4(PEX6):c.1303C>A (p.Pro435Thr) rs115186444 0.00020
NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala) rs146025917 0.00016
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000287.4(PEX6):c.617G>A (p.Gly206Glu) rs139093654 0.00016
NM_000287.4(PEX6):c.543G>A (p.Val181=) rs368560418 0.00015
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr) rs61753226 0.00013
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp) rs368752843 0.00012
NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro) rs267608235 0.00012
NM_000287.4(PEX6):c.1082C>T (p.Thr361Ile) rs145335409 0.00010
NM_000287.4(PEX6):c.2783G>A (p.Arg928His) rs201265954 0.00010
NM_000287.4(PEX6):c.643C>A (p.Leu215Ile) rs865933425 0.00010
NM_000287.4(PEX6):c.740C>G (p.Pro247Arg) rs199697021 0.00010
NM_000287.4(PEX6):c.1607G>A (p.Arg536Gln) rs138431842 0.00009
NM_000287.4(PEX6):c.1637G>A (p.Arg546His) rs201061728 0.00009
NM_000287.4(PEX6):c.2104G>A (p.Val702Met) rs377421228 0.00007
NM_000287.4(PEX6):c.1550G>A (p.Arg517Gln) rs371782808 0.00006
NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys) rs750452619 0.00006
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala) rs182308788 0.00005
NM_000287.4(PEX6):c.1613G>A (p.Arg538His) rs559048081 0.00005
NM_000287.4(PEX6):c.1877G>A (p.Arg626Gln) rs79351868 0.00005
NM_000287.4(PEX6):c.2459G>A (p.Gly820Glu) rs558030547 0.00005
NM_000287.4(PEX6):c.2662C>T (p.Arg888Cys) rs148251960 0.00005
NM_000287.4(PEX6):c.2869C>T (p.Arg957Trp) rs762858933 0.00005
NM_000287.4(PEX6):c.2891dup (p.Gln965fs) rs753862792 0.00005
NM_000287.3(PEX6):c.-39G>A rs76974379 0.00004
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln) rs769388552 0.00004
NM_000287.4(PEX6):c.1354C>T (p.Arg452Cys) rs762734034 0.00004
NM_000287.4(PEX6):c.187G>A (p.Gly63Ser) rs958375823 0.00004
NM_000287.4(PEX6):c.2357G>A (p.Arg786Gln) rs758572546 0.00004
NM_000287.4(PEX6):c.2642G>A (p.Arg881His) rs751377690 0.00004
NM_000287.4(PEX6):c.2663G>A (p.Arg888His) rs267608247 0.00004
NM_000287.4(PEX6):c.2736G>A (p.Ala912=) rs202049230 0.00004
NM_000287.4(PEX6):c.2906G>A (p.Arg969Gln) rs374426032 0.00004
NM_000287.4(PEX6):c.2924G>T (p.Arg975Leu) rs757254854 0.00004
NM_000287.4(PEX6):c.411G>A (p.Arg137=) rs769196737 0.00004
NM_000287.4(PEX6):c.657G>A (p.Gln219=) rs375588028 0.00004
NM_000287.4(PEX6):c.680A>G (p.Gln227Arg) rs757479364 0.00004
NM_000287.4(PEX6):c.690G>A (p.Glu230=) rs368341252 0.00004
NM_000287.4(PEX6):c.870G>C (p.Glu290Asp) rs150358700 0.00004
NM_000287.4(PEX6):c.939T>C (p.Pro313=) rs151234121 0.00004
NM_000287.3(PEX6):c.-62C>A rs886061413 0.00003
NM_000287.4(PEX6):c.*168C>T rs886061410 0.00003
NM_000287.4(PEX6):c.1145T>G (p.Phe382Cys) rs762401493 0.00003
NM_000287.4(PEX6):c.1159A>G (p.Lys387Glu) rs1286993221 0.00003
NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr) rs564483086 0.00003
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn) rs535326039 0.00003
NM_000287.4(PEX6):c.1234-10C>T rs370661410 0.00003
NM_000287.4(PEX6):c.1405C>T (p.Arg469Trp) rs757334412 0.00003
NM_000287.4(PEX6):c.1495C>T (p.Leu499Phe) rs769207892 0.00003
NM_000287.4(PEX6):c.152C>A (p.Ala51Glu) rs931068715 0.00003
NM_000287.4(PEX6):c.1549C>T (p.Arg517Trp) rs754790139 0.00003
NM_000287.4(PEX6):c.185C>T (p.Ala62Val) rs991131935 0.00003
NM_000287.4(PEX6):c.1876C>T (p.Arg626Trp) rs374278186 0.00003
NM_000287.4(PEX6):c.2788G>T (p.Val930Phe) rs756296074 0.00003
NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr) rs774145857 0.00003
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp) rs772383329 0.00003
NM_000287.4(PEX6):c.412G>A (p.Val138Met) rs763313055 0.00003
NM_000287.4(PEX6):c.781C>T (p.Pro261Ser) rs758866060 0.00003
NM_000287.4(PEX6):c.782C>T (p.Pro261Leu) rs753014991 0.00003
NM_000287.4(PEX6):c.904G>A (p.Ala302Thr) rs368503571 0.00003
NM_000287.4(PEX6):c.122G>A (p.Arg41Lys) rs372033738 0.00002
NM_000287.4(PEX6):c.1361A>G (p.Gln454Arg) rs779171611 0.00002
NM_000287.4(PEX6):c.1370G>T (p.Gly457Val) rs752494573 0.00002
NM_000287.4(PEX6):c.1406G>A (p.Arg469Gln) rs773105735 0.00002
NM_000287.4(PEX6):c.1555C>T (p.Arg519Cys) rs924649541 0.00002
NM_000287.4(PEX6):c.1556G>A (p.Arg519His) rs368356719 0.00002
NM_000287.4(PEX6):c.1612C>T (p.Arg538Cys) rs374253469 0.00002
NM_000287.4(PEX6):c.1810A>G (p.Ile604Val) rs370855809 0.00002
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp) rs267608230 0.00002
NM_000287.4(PEX6):c.2080G>A (p.Val694Ile) rs562698757 0.00002
NM_000287.4(PEX6):c.2089C>T (p.Pro697Ser) rs543110086 0.00002
NM_000287.4(PEX6):c.2210G>A (p.Arg737His) rs767654358 0.00002
NM_000287.4(PEX6):c.2254C>G (p.Leu752Val) rs374975985 0.00002
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln) rs61753231 0.00002
NM_000287.4(PEX6):c.2612G>A (p.Gly871Glu) rs1460417469 0.00002
NM_000287.4(PEX6):c.2643C>T (p.Arg881=) rs150853105 0.00002
NM_000287.4(PEX6):c.2672A>G (p.Lys891Arg) rs886044685 0.00002
NM_000287.4(PEX6):c.2701G>A (p.Val901Met) rs766523042 0.00002
NM_000287.4(PEX6):c.2914C>T (p.Arg972Cys) rs761395988 0.00002
NM_000287.4(PEX6):c.635T>A (p.Leu212His) rs779822002 0.00002
NM_000287.4(PEX6):c.724G>A (p.Val242Met) rs368915893 0.00002
NM_000287.4(PEX6):c.743G>T (p.Arg248Leu) rs368481812 0.00002
NM_000287.4(PEX6):c.832G>A (p.Ala278Thr) rs370456987 0.00002
NM_000287.3(PEX6):c.-71C>G rs886061414 0.00001
NM_000287.4(PEX6):c.1027C>T (p.Arg343Trp) rs977542433 0.00001
NM_000287.4(PEX6):c.1033T>A (p.Phe345Ile) rs1770222482 0.00001
NM_000287.4(PEX6):c.1085T>C (p.Ile362Thr) rs571650965 0.00001
NM_000287.4(PEX6):c.1130+2T>C rs1416001981 0.00001
NM_000287.4(PEX6):c.1145T>C (p.Phe382Ser) rs762401493 0.00001
NM_000287.4(PEX6):c.1233+3G>A rs955591362 0.00001
NM_000287.4(PEX6):c.1236G>A (p.Val412=) rs1196012985 0.00001
NM_000287.4(PEX6):c.1267C>G (p.Pro423Ala) rs774044599 0.00001
NM_000287.4(PEX6):c.1290G>T (p.Trp430Cys) rs1457151665 0.00001
NM_000287.4(PEX6):c.1294A>C (p.Ser432Arg) rs775373588 0.00001
NM_000287.4(PEX6):c.1313T>C (p.Leu438Pro) rs778025463 0.00001
NM_000287.4(PEX6):c.1365A>G (p.Pro455=) rs759402659 0.00001
NM_000287.4(PEX6):c.1367+10G>A rs776610051 0.00001
NM_000287.4(PEX6):c.140C>T (p.Pro47Leu) rs1299683224 0.00001
NM_000287.4(PEX6):c.1417G>A (p.Gly473Ser) rs774874010 0.00001
NM_000287.4(PEX6):c.1453A>G (p.Ser485Gly) rs1211744219 0.00001
NM_000287.4(PEX6):c.1484C>G (p.Pro495Arg) rs762174122 0.00001
NM_000287.4(PEX6):c.1511G>A (p.Ser504Asn) rs770340288 0.00001
NM_000287.4(PEX6):c.1558C>T (p.Arg520Cys) rs530370123 0.00001
NM_000287.4(PEX6):c.157C>G (p.Leu53Val) rs1254816567 0.00001
NM_000287.4(PEX6):c.1591G>A (p.Val531Met) rs1769924968 0.00001
NM_000287.4(PEX6):c.1639G>T (p.Val547Leu) rs757202336 0.00001
NM_000287.4(PEX6):c.1654C>T (p.Arg552Cys) rs765678624 0.00001
NM_000287.4(PEX6):c.1688+3A>G rs111397663 0.00001
NM_000287.4(PEX6):c.1688G>A (p.Ser563Asn) rs768025730 0.00001
NM_000287.4(PEX6):c.1747G>A (p.Val583Met) rs750996699 0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225 0.00001
NM_000287.4(PEX6):c.1817G>A (p.Arg606Gln) rs780239941 0.00001
NM_000287.4(PEX6):c.1834C>T (p.Leu612Phe) rs750758458 0.00001
NM_000287.4(PEX6):c.1884A>G (p.Ala628=) rs779124738 0.00001
NM_000287.4(PEX6):c.1885G>C (p.Gly629Arg) rs753408034 0.00001
NM_000287.4(PEX6):c.188G>A (p.Gly63Asp) rs1770439751 0.00001
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln) rs746117128 0.00001
NM_000287.4(PEX6):c.1943C>T (p.Thr648Ile) rs1439667922 0.00001
NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu) rs267608228 0.00001
NM_000287.4(PEX6):c.1961+4A>C rs748621080 0.00001
NM_000287.4(PEX6):c.2011G>A (p.Gly671Ser) rs776805570 0.00001
NM_000287.4(PEX6):c.202G>A (p.Gly68Ser) rs752644254 0.00001
NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp) rs748535121 0.00001
NM_000287.4(PEX6):c.2094+6G>A rs1009420665 0.00001
NM_000287.4(PEX6):c.2108C>T (p.Ser703Phe) rs1390565278 0.00001
NM_000287.4(PEX6):c.2142G>T (p.Lys714Asn) rs371619603 0.00001
NM_000287.4(PEX6):c.2157G>C (p.Glu719Asp) rs1385321266 0.00001
NM_000287.4(PEX6):c.2177A>C (p.Glu726Ala) rs1250862310 0.00001
NM_000287.4(PEX6):c.2204T>C (p.Leu735Pro) rs920798728 0.00001
NM_000287.4(PEX6):c.2209C>T (p.Arg737Cys) rs148562506 0.00001
NM_000287.4(PEX6):c.2228A>G (p.His743Arg) rs1313804105 0.00001
NM_000287.4(PEX6):c.2243C>T (p.Thr748Ile) rs1769802405 0.00001
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser) rs1244339215 0.00001
NM_000287.4(PEX6):c.2347G>A (p.Glu783Lys) rs757161798 0.00001
NM_000287.4(PEX6):c.2353G>A (p.Val785Met) rs747065131 0.00001
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239 0.00001
NM_000287.4(PEX6):c.2359G>A (p.Glu787Lys) rs202019439 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000287.4(PEX6):c.2441G>A (p.Arg814Gln) rs757780839 0.00001
NM_000287.4(PEX6):c.2512A>G (p.Ser838Gly) rs759682469 0.00001
NM_000287.4(PEX6):c.2547C>T (p.Asn849=) rs1171568759 0.00001
NM_000287.4(PEX6):c.2585G>T (p.Gly862Val) rs764227040 0.00001
NM_000287.4(PEX6):c.2615C>T (p.Ala872Val) rs183208634 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000287.4(PEX6):c.2641C>T (p.Arg881Cys) rs756846188 0.00001
NM_000287.4(PEX6):c.2667-4A>G rs1561819184 0.00001
NM_000287.4(PEX6):c.2681C>T (p.Pro894Leu) rs1040199114 0.00001
NM_000287.4(PEX6):c.2693T>C (p.Leu898Pro) rs1769689393 0.00001
NM_000287.4(PEX6):c.2729C>T (p.Thr910Met) rs762089817 0.00001
NM_000287.4(PEX6):c.2805A>G (p.Glu935=) rs918460295 0.00001
NM_000287.4(PEX6):c.2870G>A (p.Arg957Gln) rs370201505 0.00001
NM_000287.4(PEX6):c.2877A>G (p.Gln959=) rs562040179 0.00001
NM_000287.4(PEX6):c.2878C>T (p.Pro960Ser) rs1769644652 0.00001
NM_000287.4(PEX6):c.2885T>C (p.Val962Ala) rs1361796630 0.00001
NM_000287.4(PEX6):c.2915G>A (p.Arg972His) rs751058292 0.00001
NM_000287.4(PEX6):c.2923C>T (p.Arg975Cys) rs575358435 0.00001
NM_000287.4(PEX6):c.340C>T (p.Pro114Ser) rs1561831093 0.00001
NM_000287.4(PEX6):c.358G>A (p.Val120Ile) rs918929371 0.00001
NM_000287.4(PEX6):c.400C>G (p.Pro134Ala) rs760985292 0.00001
NM_000287.4(PEX6):c.407C>A (p.Pro136Gln) rs376824422 0.00001
NM_000287.4(PEX6):c.410G>A (p.Arg137Gln) rs1254025750 0.00001
NM_000287.4(PEX6):c.460C>G (p.Arg154Gly) rs746681634 0.00001
NM_000287.4(PEX6):c.478C>T (p.Leu160Phe) rs1336576924 0.00001
NM_000287.4(PEX6):c.484G>T (p.Gly162Trp) rs1359274674 0.00001
NM_000287.4(PEX6):c.496C>G (p.Leu166Val) rs1770417803 0.00001
NM_000287.4(PEX6):c.533C>G (p.Pro178Arg) rs1303061971 0.00001
NM_000287.4(PEX6):c.625C>T (p.Arg209Trp) rs749292690 0.00001
NM_000287.4(PEX6):c.686G>A (p.Arg229Lys) rs1260446318 0.00001
NM_000287.4(PEX6):c.719C>G (p.Ala240Gly) rs372269200 0.00001
NM_000287.4(PEX6):c.757G>A (p.Asp253Asn) rs1259137255 0.00001
NM_000287.4(PEX6):c.773G>C (p.Gly258Ala) rs1030087734 0.00001
NM_000287.4(PEX6):c.901A>G (p.Ile301Val) rs578234477 0.00001
NM_000287.4(PEX6):c.928T>G (p.Ser310Ala) rs1770228334 0.00001
NM_000287.4(PEX6):c.946C>G (p.Pro316Ala) rs1200072500 0.00001
NM_000287.4(PEX6):c.*368G>A rs866465109
NM_000287.4(PEX6):c.*407T>G rs886061409
NM_000287.4(PEX6):c.1010A>T (p.Tyr337Phe)
NM_000287.4(PEX6):c.1012G>A (p.Asp338Asn) rs2150236006
NM_000287.4(PEX6):c.1013A>G (p.Asp338Gly)
NM_000287.4(PEX6):c.1015G>A (p.Gly339Ser)
NM_000287.4(PEX6):c.1018G>A (p.Val340Ile)
NM_000287.4(PEX6):c.1036C>A (p.Gln346Lys)
NM_000287.4(PEX6):c.1046+3_1046+5dup
NM_000287.4(PEX6):c.1047-3C>T rs2150235001
NM_000287.4(PEX6):c.104_109dup (p.Leu36_Val37insGlyLeu)
NM_000287.4(PEX6):c.106C>A (p.Leu36Met) rs758416830
NM_000287.4(PEX6):c.1075G>C (p.Val359Leu) rs2150234968
NM_000287.4(PEX6):c.1091A>G (p.Gln364Arg) rs1282588166
NM_000287.4(PEX6):c.1092A>G (p.Gln364=) rs1241222298
NM_000287.4(PEX6):c.1110A>G (p.Gly370=) rs886061411
NM_000287.4(PEX6):c.1130+1G>T rs267608213
NM_000287.4(PEX6):c.1130+6C>T rs2150234879
NM_000287.4(PEX6):c.1131-3C>A
NM_000287.4(PEX6):c.1131G>A (p.Arg377=)
NM_000287.4(PEX6):c.1135C>T (p.Arg379Trp)
NM_000287.4(PEX6):c.1136G>A (p.Arg379Gln)
NM_000287.4(PEX6):c.1138G>A (p.Glu380Lys)
NM_000287.4(PEX6):c.1152_1154del (p.Val385del) rs1770004572
NM_000287.4(PEX6):c.115G>A (p.Ala39Thr)
NM_000287.4(PEX6):c.1166T>C (p.Val389Ala) rs1043201555
NM_000287.4(PEX6):c.1178C>T (p.Pro393Leu)
NM_000287.4(PEX6):c.1181A>G (p.Asp394Gly)
NM_000287.4(PEX6):c.1183G>A (p.Gly395Arg)
NM_000287.4(PEX6):c.1183G>C (p.Gly395Arg)
NM_000287.4(PEX6):c.1186C>T (p.Pro396Ser) rs1239197537
NM_000287.4(PEX6):c.1187C>T (p.Pro396Leu)
NM_000287.4(PEX6):c.1226T>C (p.Leu409Ser) rs1355523119
NM_000287.4(PEX6):c.1232T>C (p.Met411Thr) rs566310924
NM_000287.4(PEX6):c.1234G>A (p.Val412Met)
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
NM_000287.4(PEX6):c.1255G>C (p.Val419Leu) rs773054165
NM_000287.4(PEX6):c.125C>T (p.Pro42Leu) rs960906617
NM_000287.4(PEX6):c.1264C>T (p.Leu422Phe)
NM_000287.4(PEX6):c.127G>T (p.Ala43Ser) rs1770442809
NM_000287.4(PEX6):c.1299G>T (p.Leu433Phe)
NM_000287.4(PEX6):c.1301C>T (p.Ser434Phe)
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp) rs771063294
NM_000287.4(PEX6):c.133_147dup (p.Glu45_Gly49dup) rs1421584986
NM_000287.4(PEX6):c.1350_1351delinsAA (p.Pro451Thr)
NM_000287.4(PEX6):c.1354C>G (p.Arg452Gly)
NM_000287.4(PEX6):c.1357C>T (p.Leu453Phe) rs1769988827
NM_000287.4(PEX6):c.1367+6T>C rs2114247326
NM_000287.4(PEX6):c.1368G>A (p.Gly456=) rs763725671
NM_000287.4(PEX6):c.1370G>A (p.Gly457Asp)
NM_000287.4(PEX6):c.1373C>A (p.Ala458Asp)
NM_000287.4(PEX6):c.137G>C (p.Ser46Thr)
NM_000287.4(PEX6):c.1382C>G (p.Thr461Arg) rs2114246115
NM_000287.4(PEX6):c.1388C>T (p.Thr463Ile)
NM_000287.4(PEX6):c.1394G>C (p.Ser465Thr) rs2114246040
NM_000287.4(PEX6):c.1396G>A (p.Val466Ile)
NM_000287.4(PEX6):c.1399C>T (p.Leu467Phe) rs2114246028
NM_000287.4(PEX6):c.1401_1403del (p.Leu468del) rs1222318292
NM_000287.4(PEX6):c.140C>A (p.Pro47Gln) rs1299683224
NM_000287.4(PEX6):c.1415C>T (p.Pro472Leu) rs1769951744
NM_000287.4(PEX6):c.1429A>G (p.Thr477Ala) rs2114245927
NM_000287.4(PEX6):c.1438G>A (p.Val480Ile) rs2114245909
NM_000287.4(PEX6):c.1440TGC[2] (p.Ala483del) rs1554127389
NM_000287.4(PEX6):c.1456C>T (p.His486Tyr) rs1320010518
NM_000287.4(PEX6):c.1463G>A (p.Gly488Glu)
NM_000287.4(PEX6):c.1478A>T (p.Lys493Met)
NM_000287.4(PEX6):c.1479+4A>T rs2114245810
NM_000287.4(PEX6):c.1479+6_1479+9del
NM_000287.4(PEX6):c.1483C>T (p.Pro495Ser)
NM_000287.4(PEX6):c.1489T>C (p.Ser497Pro) rs2114245129
NM_000287.4(PEX6):c.1513G>A (p.Gly505Arg) rs1769929969
NM_000287.4(PEX6):c.1519G>A (p.Val507Met)
NM_000287.4(PEX6):c.1519G>C (p.Val507Leu) rs1355702643
NM_000287.4(PEX6):c.152C>T (p.Ala51Val)
NM_000287.4(PEX6):c.1544T>A (p.Phe515Tyr) rs778534336
NM_000287.4(PEX6):c.1544T>C (p.Phe515Ser)
NM_000287.4(PEX6):c.1547C>G (p.Ser516Cys)
NM_000287.4(PEX6):c.1549C>A (p.Arg517=) rs754790139
NM_000287.4(PEX6):c.154C>G (p.Leu52Val) rs2150240677
NM_000287.4(PEX6):c.1550G>C (p.Arg517Pro) rs371782808
NM_000287.4(PEX6):c.1556G>T (p.Arg519Leu)
NM_000287.4(PEX6):c.1559G>A (p.Arg520His)
NM_000287.4(PEX6):c.1559G>T (p.Arg520Leu)
NM_000287.4(PEX6):c.1564C>T (p.Arg522Trp)
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln) rs374396138
NM_000287.4(PEX6):c.1565G>C (p.Arg522Pro)
NM_000287.4(PEX6):c.1570G>A (p.Ala524Thr)
NM_000287.4(PEX6):c.1586C>T (p.Thr529Ile) rs771639281
NM_000287.4(PEX6):c.1588G>T (p.Ala530Ser)
NM_000287.4(PEX6):c.1611C>G (p.Asp537Glu) rs2114244744
NM_000287.4(PEX6):c.1618G>A (p.Gly540Arg)
NM_000287.4(PEX6):c.161T>G (p.Val54Gly) rs2150240668
NM_000287.4(PEX6):c.1624G>A (p.Gly542Ser) rs1769923693
NM_000287.4(PEX6):c.1627G>A (p.Glu543Lys) rs143549190
NM_000287.4(PEX6):c.1629G>C (p.Glu543Asp)
NM_000287.4(PEX6):c.1630G>A (p.Asp544Asn) rs2114244681
NM_000287.4(PEX6):c.1634C>T (p.Ala545Val) rs2114244672
NM_000287.4(PEX6):c.1639G>A (p.Val547Met)
NM_000287.4(PEX6):c.1642A>G (p.Met548Val)
NM_000287.4(PEX6):c.1644G>C (p.Met548Ile)
NM_000287.4(PEX6):c.1655G>A (p.Arg552His)
NM_000287.4(PEX6):c.1672G>A (p.Glu558Lys)
NM_000287.4(PEX6):c.1681C>T (p.Leu561Phe)
NM_000287.4(PEX6):c.1685A>G (p.Asn562Ser)
NM_000287.4(PEX6):c.1689-3C>T rs769573987
NM_000287.4(PEX6):c.1699C>A (p.Leu567Ile)
NM_000287.4(PEX6):c.1702A>T (p.Met568Leu) rs2114242869
NM_000287.4(PEX6):c.1706T>C (p.Val569Ala)
NM_000287.4(PEX6):c.1708G>A (p.Val570Met) rs2114242847
NM_000287.4(PEX6):c.1709T>C (p.Val570Ala)
NM_000287.4(PEX6):c.1723C>T (p.Arg575Trp) rs755211783
NM_000287.4(PEX6):c.1724G>A (p.Arg575Gln) rs754034834
NM_000287.4(PEX6):c.1724G>T (p.Arg575Leu)
NM_000287.4(PEX6):c.1741G>A (p.Ala581Thr) rs1316254924
NM_000287.4(PEX6):c.1756G>A (p.Ala586Thr) rs1309200431
NM_000287.4(PEX6):c.1756_1757delinsAA (p.Ala586Lys)
NM_000287.4(PEX6):c.1765C>T (p.His589Tyr) rs2114242678
NM_000287.4(PEX6):c.1771C>T (p.Leu591Phe) rs2114242669
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln) rs375288192
NM_000287.4(PEX6):c.1783G>A (p.Ala595Thr)
NM_000287.4(PEX6):c.1789T>C (p.Ser597Pro)
NM_000287.4(PEX6):c.179C>T (p.Pro60Leu)
NM_000287.4(PEX6):c.1816C>T (p.Arg606Trp)
NM_000287.4(PEX6):c.181G>A (p.Asp61Asn)
NM_000287.4(PEX6):c.1823T>C (p.Leu608Pro) rs1561821635
NM_000287.4(PEX6):c.1826C>T (p.Thr609Ile) rs2114242443
NM_000287.4(PEX6):c.1833C>G (p.His611Gln) rs1335182312
NM_000287.4(PEX6):c.1849G>A (p.Glu617Lys)
NM_000287.4(PEX6):c.1866G>T (p.Gln622His)
NM_000287.4(PEX6):c.1870G>T (p.Ala624Ser)
NM_000287.4(PEX6):c.1871C>T (p.Ala624Val) rs2114242326
NM_000287.4(PEX6):c.1873C>T (p.Arg625Trp)
NM_000287.4(PEX6):c.1874G>A (p.Arg625Gln) rs1769868642
NM_000287.4(PEX6):c.187G>T (p.Gly63Cys)
NM_000287.4(PEX6):c.1880G>A (p.Cys627Tyr) rs2114242285
NM_000287.4(PEX6):c.1881T>G (p.Cys627Trp)
NM_000287.4(PEX6):c.1900G>A (p.Asp634Asn) rs2114241000
NM_000287.4(PEX6):c.1900G>T (p.Asp634Tyr)
NM_000287.4(PEX6):c.1910C>G (p.Ala637Gly) rs2114240982
NM_000287.4(PEX6):c.1922A>C (p.His641Pro)
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp) rs769896492
NM_000287.4(PEX6):c.1935A>C (p.Ala645=) rs1769827119
NM_000287.4(PEX6):c.193G>A (p.Glu65Lys)
NM_000287.4(PEX6):c.1940_1941delinsAT (p.Cys647Tyr) rs2114240908
NM_000287.4(PEX6):c.196G>A (p.Glu66Lys)
NM_000287.4(PEX6):c.1970G>A (p.Gly657Asp) rs2114240555
NM_000287.4(PEX6):c.1982A>C (p.Glu661Ala) rs2114240531
NM_000287.4(PEX6):c.1993G>T (p.Gly665Trp)
NM_000287.4(PEX6):c.1998G>T (p.Glu666Asp)
NM_000287.4(PEX6):c.2017C>T (p.Pro673Ser)
NM_000287.4(PEX6):c.2018C>G (p.Pro673Arg) rs2114240452
NM_000287.4(PEX6):c.202G>C (p.Gly68Arg) rs752644254
NM_000287.4(PEX6):c.202_219del (p.Gly68_Gln73del) rs1162020526
NM_000287.4(PEX6):c.205C>T (p.Pro69Ser)
NM_000287.4(PEX6):c.2066C>T (p.Ala689Val) rs1396207688
NM_000287.4(PEX6):c.208G>A (p.Gly70Arg) rs2150240598
NM_000287.4(PEX6):c.2093A>G (p.Lys698Arg) rs2114240305
NM_000287.4(PEX6):c.2094+4G>A rs943511270
NM_000287.4(PEX6):c.2094+4G>C rs943511270
NM_000287.4(PEX6):c.2094+4_2094+6del
NM_000287.4(PEX6):c.2094G>A (p.Lys698=)
NM_000287.4(PEX6):c.2111G>C (p.Trp704Ser)
NM_000287.4(PEX6):c.2125G>A (p.Gly709Arg) rs1254717257
NM_000287.4(PEX6):c.2148G>C (p.Glu716Asp)
NM_000287.4(PEX6):c.2150T>C (p.Ile717Thr) rs2114239994
NM_000287.4(PEX6):c.2152C>G (p.Leu718Val) rs1769807803
NM_000287.4(PEX6):c.2167C>G (p.Leu723Val)
NM_000287.4(PEX6):c.2171C>T (p.Pro724Leu) rs201270008
NM_000287.4(PEX6):c.2192T>G (p.Leu731Arg)
NM_000287.4(PEX6):c.2195G>T (p.Ser732Ile)
NM_000287.4(PEX6):c.2196C>G (p.Ser732Arg) rs1485203588
NM_000287.4(PEX6):c.2198T>C (p.Leu733Pro) rs1581760232
NM_000287.4(PEX6):c.2224C>T (p.Leu742Phe)
NM_000287.4(PEX6):c.2241C>T (p.Gly747=) rs2114239728
NM_000287.4(PEX6):c.224T>C (p.Leu75Pro)
NM_000287.4(PEX6):c.2261C>T (p.Ala754Val)
NM_000287.4(PEX6):c.226G>A (p.Val76Ile)
NM_000287.4(PEX6):c.2272G>A (p.Ala758Thr) rs1769800975
NM_000287.4(PEX6):c.2273C>A (p.Ala758Asp)
NM_000287.4(PEX6):c.2301-9C>A rs1769791098
NM_000287.4(PEX6):c.2301C>T (p.Ser767=)
NM_000287.4(PEX6):c.2302G>A (p.Val768Met)
NM_000287.4(PEX6):c.2306A>C (p.Lys769Thr)
NM_000287.4(PEX6):c.2316G>T (p.Glu772Asp)
NM_000287.4(PEX6):c.231C>A (p.Ser77Arg) rs1770437263
NM_000287.4(PEX6):c.2327T>C (p.Met776Thr) rs2114239270
NM_000287.4(PEX6):c.2350A>G (p.Asn784Asp) rs929525105
NM_000287.4(PEX6):c.2351A>G (p.Asn784Ser) rs1769787466
NM_000287.4(PEX6):c.235G>A (p.Ala79Thr) rs61752141
NM_000287.4(PEX6):c.236C>T (p.Ala79Val)
NM_000287.4(PEX6):c.2392T>C (p.Cys798Arg)
NM_000287.4(PEX6):c.2399T>C (p.Ile800Thr) rs748244253
NM_000287.4(PEX6):c.2419T>C (p.Ser807Pro)
NM_000287.4(PEX6):c.2434C>T (p.Arg812Trp) rs61753228
NM_000287.4(PEX6):c.2453C>G (p.Ser818Cys)
NM_000287.4(PEX6):c.245G>C (p.Arg82Pro) rs2150240495
NM_000287.4(PEX6):c.2471+5G>T rs1213308057
NM_000287.4(PEX6):c.2476G>A (p.Val826Met) rs1769733515
NM_000287.4(PEX6):c.2476G>T (p.Val826Leu) rs1769733515
NM_000287.4(PEX6):c.247C>G (p.Leu83Val) rs1770435941
NM_000287.4(PEX6):c.2488C>G (p.Leu830Val) rs749533099
NM_000287.4(PEX6):c.2503G>T (p.Gly835Trp)
NM_000287.4(PEX6):c.2504G>A (p.Gly835Glu)
NM_000287.4(PEX6):c.2524G>A (p.Val842Met)
NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup) rs1554128546
NM_000287.4(PEX6):c.2565C>A (p.Asp855Glu)
NM_000287.4(PEX6):c.2572C>A (p.Leu858Ile) rs1769725500
NM_000287.4(PEX6):c.2573T>C (p.Leu858Pro) rs1769725308
NM_000287.4(PEX6):c.2579G>C (p.Arg860Pro) rs61753231
NM_000287.4(PEX6):c.2581C>G (p.Pro861Ala)
NM_000287.4(PEX6):c.2587A>G (p.Arg863Gly) rs1769723613
NM_000287.4(PEX6):c.2589-11T>G
NM_000287.4(PEX6):c.2601G>T (p.Leu867=) rs1769712635
NM_000287.4(PEX6):c.2627G>A (p.Arg876Gln)
NM_000287.4(PEX6):c.2635C>G (p.Gln879Glu) rs1769709206
NM_000287.4(PEX6):c.2663G>T (p.Arg888Leu) rs267608247
NM_000287.4(PEX6):c.2666+5G>A rs1332626624
NM_000287.4(PEX6):c.2668T>C (p.Phe890Leu) rs2114236546
NM_000287.4(PEX6):c.2697A>G (p.Val899=) rs892510772
NM_000287.4(PEX6):c.2702T>C (p.Val901Ala) rs1209841271
NM_000287.4(PEX6):c.272G>C (p.Trp91Ser)
NM_000287.4(PEX6):c.2734G>T (p.Ala912Ser)
NM_000287.4(PEX6):c.2753G>A (p.Cys918Tyr) rs1418426929
NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup) rs61752142
NM_000287.4(PEX6):c.2764_2765del (p.Met922fs) rs1554126781
NM_000287.4(PEX6):c.2768C>T (p.Thr923Ile)
NM_000287.4(PEX6):c.2773_2774delinsCT (p.Ala925Leu) rs2114236221
NM_000287.4(PEX6):c.277CGGGCG[1] (p.93RA[1]) rs61753208
NM_000287.4(PEX6):c.2782C>T (p.Arg928Cys)
NM_000287.4(PEX6):c.2785A>G (p.Arg929Gly) rs1232075600
NM_000287.4(PEX6):c.2806+6C>T
NM_000287.4(PEX6):c.2814_2816delinsAGA (p.Pro939Glu)
NM_000287.4(PEX6):c.2816C>G (p.Pro939Arg) rs1129187
NM_000287.4(PEX6):c.281C>A (p.Ala94Glu) rs61752143
NM_000287.4(PEX6):c.2830C>A (p.Leu944Met) rs2063704023
NM_000287.4(PEX6):c.2842A>G (p.Met948Val)
NM_000287.4(PEX6):c.2845G>A (p.Glu949Lys)
NM_000287.4(PEX6):c.284G>A (p.Arg95Gln)
NM_000287.4(PEX6):c.284G>C (p.Arg95Pro) rs2150240407
NM_000287.4(PEX6):c.2850C>G (p.Asp950Glu) rs1251800022
NM_000287.4(PEX6):c.2861C>T (p.Ala954Val)
NM_000287.4(PEX6):c.2866G>T (p.Ala956Ser) rs774145857
NM_000287.4(PEX6):c.2873T>G (p.Leu958Arg) rs2114235199
NM_000287.4(PEX6):c.2882C>T (p.Ser961Leu) rs886043724
NM_000287.4(PEX6):c.2893C>G (p.Gln965Glu)
NM_000287.4(PEX6):c.2905C>T (p.Arg969Trp)
NM_000287.4(PEX6):c.2906G>T (p.Arg969Leu)
NM_000287.4(PEX6):c.2907G>C (p.Arg969=) rs145243129
NM_000287.4(PEX6):c.2908T>C (p.Tyr970His)
NM_000287.4(PEX6):c.2913G>C (p.Lys971Asn)
NM_000287.4(PEX6):c.2915G>T (p.Arg972Leu) rs751058292
NM_000287.4(PEX6):c.2921A>C (p.Gln974Pro) rs1211978587
NM_000287.4(PEX6):c.2938T>A (p.Cys980Ser)
NM_000287.4(PEX6):c.2938T>G (p.Cys980Gly) rs1427401725
NM_000287.4(PEX6):c.302C>G (p.Pro101Arg) rs774813175
NM_000287.4(PEX6):c.302C>T (p.Pro101Leu)
NM_000287.4(PEX6):c.313T>C (p.Trp105Arg)
NM_000287.4(PEX6):c.316G>A (p.Ala106Thr) rs2150240338
NM_000287.4(PEX6):c.317C>T (p.Ala106Val)
NM_000287.4(PEX6):c.32C>T (p.Pro11Leu) rs2150240912
NM_000287.4(PEX6):c.337G>A (p.Gly113Arg)
NM_000287.4(PEX6):c.346C>T (p.Leu116Phe) rs1770429515
NM_000287.4(PEX6):c.352C>T (p.Pro118Ser)
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser) rs61752139
NM_000287.4(PEX6):c.373G>T (p.Val125Leu) rs1383547974
NM_000287.4(PEX6):c.37C>A (p.Pro13Thr)
NM_000287.4(PEX6):c.403G>A (p.Gly135Arg)
NM_000287.4(PEX6):c.403G>C (p.Gly135Arg)
NM_000287.4(PEX6):c.410G>C (p.Arg137Pro) rs1254025750
NM_000287.4(PEX6):c.424C>T (p.Arg142Trp)
NM_000287.4(PEX6):c.42C>A (p.Thr14=) rs1375938727
NM_000287.4(PEX6):c.446T>A (p.Leu149Gln) rs1561830810
NM_000287.4(PEX6):c.44A>T (p.Glu15Val)
NM_000287.4(PEX6):c.469G>A (p.Val157Met) rs777547423
NM_000287.4(PEX6):c.473C>G (p.Thr158Ser)
NM_000287.4(PEX6):c.475G>C (p.Glu159Gln) rs991248029
NM_000287.4(PEX6):c.481C>T (p.Arg161Cys)
NM_000287.4(PEX6):c.485G>C (p.Gly162Ala)
NM_000287.4(PEX6):c.490G>A (p.Ala164Thr)
NM_000287.4(PEX6):c.494G>A (p.Arg165Lys)
NM_000287.4(PEX6):c.496C>A (p.Leu166Met) rs1770417803
NM_000287.4(PEX6):c.49C>A (p.Pro17Thr) rs918969564
NM_000287.4(PEX6):c.4G>A (p.Ala2Thr) rs748585216
NM_000287.4(PEX6):c.508T>C (p.Ser170Pro) rs1233039273
NM_000287.4(PEX6):c.516CAG[1] (p.Ser174del) rs1770416024
NM_000287.4(PEX6):c.517A>G (p.Ser173Gly)
NM_000287.4(PEX6):c.524G>T (p.Arg175Leu)
NM_000287.4(PEX6):c.52C>T (p.Pro18Ser) rs1770447100
NM_000287.4(PEX6):c.532C>T (p.Pro178Ser) rs1331493124
NM_000287.4(PEX6):c.53C>T (p.Pro18Leu)
NM_000287.4(PEX6):c.541G>A (p.Val181Met)
NM_000287.4(PEX6):c.541GTG[1] (p.Val182del) rs1554128449
NM_000287.4(PEX6):c.544G>A (p.Val182Met)
NM_000287.4(PEX6):c.548CCT[1] (p.Ser184del) rs1554128446
NM_000287.4(PEX6):c.559G>A (p.Val187Ile) rs2150239788
NM_000287.4(PEX6):c.568A>G (p.Thr190Ala)
NM_000287.4(PEX6):c.586G>A (p.Gly196Arg) rs1770412754
NM_000287.4(PEX6):c.586G>C (p.Gly196Arg) rs1770412754
NM_000287.4(PEX6):c.592C>G (p.Leu198Val) rs1770412382
NM_000287.4(PEX6):c.599G>A (p.Gly200Glu)
NM_000287.4(PEX6):c.600G>T (p.Gly200=)
NM_000287.4(PEX6):c.614T>A (p.Leu205Gln)
NM_000287.4(PEX6):c.614T>C (p.Leu205Pro) rs1379179938
NM_000287.4(PEX6):c.643C>G (p.Leu215Val) rs865933425
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.4(PEX6):c.658G>A (p.Gly220Ser)
NM_000287.4(PEX6):c.658G>C (p.Gly220Arg)
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000287.4(PEX6):c.660C>T (p.Gly220=)
NM_000287.4(PEX6):c.667G>A (p.Val223Met)
NM_000287.4(PEX6):c.673G>A (p.Val225Met) rs1770406575
NM_000287.4(PEX6):c.677C>A (p.Ala226Asp) rs2150239605
NM_000287.4(PEX6):c.67C>G (p.Leu23Val)
NM_000287.4(PEX6):c.681G>A (p.Gln227=) rs1770406319
NM_000287.4(PEX6):c.683C>G (p.Ala228Gly)
NM_000287.4(PEX6):c.695C>T (p.Ser232Leu)
NM_000287.4(PEX6):c.697A>C (p.Asn233His)
NM_000287.4(PEX6):c.697A>G (p.Asn233Asp) rs374452739
NM_000287.4(PEX6):c.701C>G (p.Thr234Ser)
NM_000287.4(PEX6):c.701C>T (p.Thr234Ile)
NM_000287.4(PEX6):c.703T>C (p.Ser235Pro)
NM_000287.4(PEX6):c.709C>T (p.Pro237Ser)
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr) rs886061412
NM_000287.4(PEX6):c.724G>T (p.Val242Leu) rs368915893
NM_000287.4(PEX6):c.737A>T (p.Glu246Val) rs1770401105
NM_000287.4(PEX6):c.749A>G (p.Asp250Gly)
NM_000287.4(PEX6):c.751C>G (p.Leu251Val) rs769332435
NM_000287.4(PEX6):c.751C>T (p.Leu251Phe)
NM_000287.4(PEX6):c.754T>A (p.Ser252Thr)
NM_000287.4(PEX6):c.76G>C (p.Gly26Arg) rs1268867658
NM_000287.4(PEX6):c.770C>A (p.Pro257His)
NM_000287.4(PEX6):c.776C>T (p.Ser259Phe) rs201329563
NM_000287.4(PEX6):c.780_782dup (p.Pro261dup) rs1770395486
NM_000287.4(PEX6):c.78_79delinsAA (p.Gly27Ser)
NM_000287.4(PEX6):c.80G>C (p.Gly27Ala) rs983060034
NM_000287.4(PEX6):c.812C>T (p.Ala271Val)
NM_000287.4(PEX6):c.817G>C (p.Val273Leu) rs1770393206
NM_000287.4(PEX6):c.824C>G (p.Ala275Gly)
NM_000287.4(PEX6):c.829T>A (p.Leu277Met) rs1198487899
NM_000287.4(PEX6):c.839A>G (p.Asn280Ser)
NM_000287.4(PEX6):c.83C>G (p.Pro28Arg)
NM_000287.4(PEX6):c.853C>A (p.Pro285Thr) rs61753220
NM_000287.4(PEX6):c.856C>G (p.Leu286Val) rs2150239282
NM_000287.4(PEX6):c.866G>A (p.Gly289Glu)
NM_000287.4(PEX6):c.882+4G>A rs756846884
NM_000287.4(PEX6):c.882+5G>A rs1770388962
NM_000287.4(PEX6):c.896G>A (p.Gly299Asp) rs548459114
NM_000287.4(PEX6):c.899C>T (p.Ser300Phe)
NM_000287.4(PEX6):c.915C>G (p.Asp305Glu)
NM_000287.4(PEX6):c.937C>T (p.Pro313Ser)
NM_000287.4(PEX6):c.941G>T (p.Gly314Val) rs746415021
NM_000287.4(PEX6):c.953C>G (p.Ala318Gly) rs200600289
NM_000287.4(PEX6):c.967A>G (p.Ile323Val)
NM_000287.4(PEX6):c.988C>T (p.His330Tyr) rs1561827871
NM_000287.4(PEX6):c.994A>G (p.Ser332Gly)
NM_000287.4(PEX6):c.998C>G (p.Thr333Ser)

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