ClinVar Miner

List of variants reported as likely benign for adrenoleukodystrophy

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 545
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.*668C>T rs187420166 0.01599
NM_000033.4(ABCD1):c.*123C>T rs186542134 0.01035
NM_000033.4(ABCD1):c.901-16C>T rs41302176 0.00840
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334 0.00357
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr) rs202195978 0.00088
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096 0.00080
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869 0.00065
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00063
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823 0.00058
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=) rs202125585 0.00041
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199 0.00037
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945 0.00034
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=) rs145073701 0.00032
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr) rs782134465 0.00028
NM_000033.4(ABCD1):c.1117A>G (p.Lys373Glu) rs368606000 0.00024
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755 0.00023
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397 0.00019
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=) rs138233092 0.00018
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958 0.00016
NM_000033.4(ABCD1):c.1780+4G>A rs193922095 0.00014
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261 0.00014
NM_000033.4(ABCD1):c.420C>A (p.Ile140=) rs74315279 0.00014
NM_000033.4(ABCD1):c.901-5C>T rs782603062 0.00014
NM_000033.4(ABCD1):c.50G>A (p.Arg17His) rs782693577 0.00012
NM_000033.4(ABCD1):c.1521C>T (p.Gly507=) rs373442692 0.00011
NM_000033.4(ABCD1):c.2202G>A (p.Pro734=) rs782093609 0.00011
NM_000033.4(ABCD1):c.108G>A (p.Val36=) rs368718078 0.00010
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029 0.00010
NM_000033.4(ABCD1):c.54G>A (p.Thr18=) rs781855598 0.00010
NM_000033.4(ABCD1):c.1399G>A (p.Val467Met) rs192525493 0.00009
NM_000033.4(ABCD1):c.1743C>T (p.Asp581=) rs782026057 0.00009
NM_000033.4(ABCD1):c.2079G>A (p.Thr693=) rs781935761 0.00009
NM_000033.4(ABCD1):c.1536C>G (p.Gly512=) rs139343560 0.00008
NM_000033.4(ABCD1):c.1781-5C>G rs781920026 0.00008
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser) rs146525445 0.00008
NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln) rs781874815 0.00008
NM_000033.4(ABCD1):c.1125G>A (p.Glu375=) rs781928741 0.00007
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613 0.00007
NM_000033.4(ABCD1):c.483G>T (p.Ser161=) rs369052808 0.00007
NM_000033.4(ABCD1):c.504C>G (p.Ala168=) rs782453684 0.00007
NM_000033.4(ABCD1):c.870G>A (p.Ser290=) rs782563177 0.00007
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser) rs375019683 0.00006
NM_000033.4(ABCD1):c.1444G>A (p.Val482Ile) rs781806403 0.00006
NM_000033.4(ABCD1):c.186G>A (p.Ala62=) rs782728047 0.00006
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met) rs782157913 0.00006
NM_000033.4(ABCD1):c.1092C>T (p.Ala364=) rs782250326 0.00005
NM_000033.4(ABCD1):c.1635-6C>T rs782661128 0.00005
NM_000033.4(ABCD1):c.1865+12G>A rs373638861 0.00005
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134 0.00005
NM_000033.4(ABCD1):c.414C>T (p.Leu138=) rs782197275 0.00005
NM_000033.4(ABCD1):c.1230G>A (p.Thr410=) rs782004836 0.00004
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988 0.00004
NM_000033.4(ABCD1):c.143C>T (p.Ala48Val) rs781803154 0.00004
NM_000033.4(ABCD1):c.1533C>T (p.Cys511=) rs782370364 0.00004
NM_000033.4(ABCD1):c.1865+11C>T rs781956636 0.00004
NM_000033.4(ABCD1):c.1991+7G>A rs782472075 0.00004
NM_000033.4(ABCD1):c.266G>A (p.Arg89Gln) rs370602067 0.00004
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala) rs781900720 0.00004
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile) rs782720024 0.00004
NM_000033.4(ABCD1):c.507C>T (p.His169=) rs782525046 0.00004
NM_000033.4(ABCD1):c.600C>T (p.Asp200=) rs782724538 0.00004
NM_000033.4(ABCD1):c.1142G>A (p.Arg381His) rs782755297 0.00003
NM_000033.4(ABCD1):c.1211C>T (p.Ser404Leu) rs782567454 0.00003
NM_000033.4(ABCD1):c.1317G>A (p.Glu439=) rs200522486 0.00003
NM_000033.4(ABCD1):c.1429G>A (p.Glu477Lys) rs128624222 0.00003
NM_000033.4(ABCD1):c.1489-14T>C rs370136009 0.00003
NM_000033.4(ABCD1):c.1518A>T (p.Thr506=) rs1557054743 0.00003
NM_000033.4(ABCD1):c.1824C>T (p.Gly608=) rs782334683 0.00003
NM_000033.4(ABCD1):c.1938G>A (p.Ala646=) rs144996101 0.00003
NM_000033.4(ABCD1):c.2169C>T (p.Ala723=) rs1557055461 0.00003
NM_000033.4(ABCD1):c.294G>T (p.Ser98=) rs781954264 0.00003
NM_000033.4(ABCD1):c.31C>G (p.Arg11Gly) rs1224689084 0.00003
NM_000033.4(ABCD1):c.321G>A (p.Leu107=) rs375790297 0.00003
NM_000033.4(ABCD1):c.371G>A (p.Arg124His) rs1557052326 0.00003
NM_000033.4(ABCD1):c.732G>A (p.Ser244=) rs782643462 0.00003
NM_000033.4(ABCD1):c.900+10G>C rs1177363482 0.00003
NM_000033.4(ABCD1):c.901-7C>A rs1447905393 0.00003
NM_000033.4(ABCD1):c.92A>G (p.Lys31Arg) rs782454198 0.00003
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=) rs1887821307 0.00002
NM_000033.4(ABCD1):c.1072T>C (p.Ser358Pro) rs782673539 0.00002
NM_000033.4(ABCD1):c.1212G>A (p.Ser404=) rs375656638 0.00002
NM_000033.4(ABCD1):c.1326C>T (p.Asp442=) rs782419455 0.00002
NM_000033.4(ABCD1):c.1367G>A (p.Arg456His) rs782159028 0.00002
NM_000033.4(ABCD1):c.1413A>G (p.Glu471=) rs782035584 0.00002
NM_000033.4(ABCD1):c.1467G>A (p.Val489=) rs782516659 0.00002
NM_000033.4(ABCD1):c.1629G>A (p.Pro543=) rs782278443 0.00002
NM_000033.4(ABCD1):c.1653C>T (p.Gly551=) rs200718788 0.00002
NM_000033.4(ABCD1):c.1761C>T (p.His587=) rs1306734070 0.00002
NM_000033.4(ABCD1):c.1781-6G>A rs1427008949 0.00002
NM_000033.4(ABCD1):c.1839C>T (p.Ile613=) rs782618093 0.00002
NM_000033.4(ABCD1):c.1866-18C>T rs782377846 0.00002
NM_000033.4(ABCD1):c.1911C>T (p.Ile637=) rs367901575 0.00002
NM_000033.4(ABCD1):c.1950G>A (p.Ala650=) rs74315281 0.00002
NM_000033.4(ABCD1):c.1992-15C>T rs782734602 0.00002
NM_000033.4(ABCD1):c.2031C>T (p.Gly677=) rs782468372 0.00002
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile) rs782701925 0.00002
NM_000033.4(ABCD1):c.2181G>A (p.Ala727=) rs375376269 0.00002
NM_000033.4(ABCD1):c.36G>A (p.Gly12=) rs1411271062 0.00002
NM_000033.4(ABCD1):c.381G>A (p.Pro127=) rs782672983 0.00002
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp) rs782359412 0.00002
NM_000033.4(ABCD1):c.515G>A (p.Arg172His) rs541171928 0.00002
NM_000033.4(ABCD1):c.549C>T (p.Val183=) rs1169791916 0.00002
NM_000033.4(ABCD1):c.692G>A (p.Arg231Gln) rs782143050 0.00002
NM_000033.4(ABCD1):c.706C>T (p.Arg236Cys) rs889290843 0.00002
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu) rs200849757 0.00002
NM_000033.4(ABCD1):c.795C>T (p.Phe265=) rs782336092 0.00002
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val) rs781970988 0.00002
NM_000033.4(ABCD1):c.1020C>T (p.Ser340=) rs781828983 0.00001
NM_000033.4(ABCD1):c.1026G>A (p.Ser342=) rs1557053246 0.00001
NM_000033.4(ABCD1):c.1071C>T (p.Tyr357=) rs200988373 0.00001
NM_000033.4(ABCD1):c.1081+8C>T rs782246846 0.00001
NM_000033.4(ABCD1):c.109C>T (p.Arg37Cys) rs1479670923 0.00001
NM_000033.4(ABCD1):c.1152C>T (p.Ala384=) rs782095899 0.00001
NM_000033.4(ABCD1):c.1173C>T (p.Leu391=) rs1205664363 0.00001
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val) rs1324874967 0.00001
NM_000033.4(ABCD1):c.1197T>C (p.Ile399=) rs143589488 0.00001
NM_000033.4(ABCD1):c.1225-9C>T rs371682640 0.00001
NM_000033.4(ABCD1):c.1228A>T (p.Thr410Ser) rs782161850 0.00001
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=) rs782742220 0.00001
NM_000033.4(ABCD1):c.1257G>A (p.Val419=) rs1603234541 0.00001
NM_000033.4(ABCD1):c.125C>T (p.Pro42Leu) rs1557052194 0.00001
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln) rs782066367 0.00001
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649 0.00001
NM_000033.4(ABCD1):c.1291C>T (p.Arg431Cys) rs782598285 0.00001
NM_000033.4(ABCD1):c.1295G>A (p.Cys432Tyr) rs782444676 0.00001
NM_000033.4(ABCD1):c.1320A>G (p.Leu440=) rs1381466544 0.00001
NM_000033.4(ABCD1):c.1335G>A (p.Ala445=) rs782339121 0.00001
NM_000033.4(ABCD1):c.1350A>G (p.Ile450Met) rs1016396078 0.00001
NM_000033.4(ABCD1):c.1367G>C (p.Arg456Pro) rs782159028 0.00001
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu) rs781866876 0.00001
NM_000033.4(ABCD1):c.1393+9G>A rs1569541019 0.00001
NM_000033.4(ABCD1):c.1394-15G>A rs2522291366 0.00001
NM_000033.4(ABCD1):c.1394-5T>C rs782336998 0.00001
NM_000033.4(ABCD1):c.1404G>A (p.Val468=) rs782072629 0.00001
NM_000033.4(ABCD1):c.1440C>A (p.Pro480=) rs1557054320 0.00001
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=) rs782546330 0.00001
NM_000033.4(ABCD1):c.1488+12G>A rs1219738222 0.00001
NM_000033.4(ABCD1):c.1488+20C>G rs183629718 0.00001
NM_000033.4(ABCD1):c.1489-9C>T rs782323354 0.00001
NM_000033.4(ABCD1):c.151G>A (p.Gly51Arg) rs1305796347 0.00001
NM_000033.4(ABCD1):c.1542C>T (p.Ser514=) rs149643908 0.00001
NM_000033.4(ABCD1):c.1615A>C (p.Met539Leu) rs782440686 0.00001
NM_000033.4(ABCD1):c.1617G>A (p.Met539Ile) rs927479436 0.00001
NM_000033.4(ABCD1):c.1620C>T (p.Phe540=) rs782581290 0.00001
NM_000033.4(ABCD1):c.1623C>T (p.Tyr541=) rs1569541095 0.00001
NM_000033.4(ABCD1):c.1634+16C>T rs782041728 0.00001
NM_000033.4(ABCD1):c.1634+17G>A rs782412002 0.00001
NM_000033.4(ABCD1):c.1680G>A (p.Pro560=) rs782005164 0.00001
NM_000033.4(ABCD1):c.169G>A (p.Ala57Thr) rs1557052228 0.00001
NM_000033.4(ABCD1):c.1716G>A (p.Ser572=) rs1482177539 0.00001
NM_000033.4(ABCD1):c.173C>G (p.Ser58Cys) rs781943986 0.00001
NM_000033.4(ABCD1):c.1746C>T (p.Val582=) rs1557054863 0.00001
NM_000033.4(ABCD1):c.1749G>A (p.Val583=) rs1557054868 0.00001
NM_000033.4(ABCD1):c.1755G>A (p.Leu585=) rs2091764918 0.00001
NM_000033.4(ABCD1):c.1773G>A (p.Arg591=) rs2091765039 0.00001
NM_000033.4(ABCD1):c.1781-7C>T rs79915675 0.00001
NM_000033.4(ABCD1):c.1781-9C>T rs1447645678 0.00001
NM_000033.4(ABCD1):c.1791T>C (p.Ala597=) rs782820092 0.00001
NM_000033.4(ABCD1):c.1809C>T (p.Asp603=) rs1228301857 0.00001
NM_000033.4(ABCD1):c.1865+17G>A rs377149542 0.00001
NM_000033.4(ABCD1):c.1865+8C>T rs374985703 0.00001
NM_000033.4(ABCD1):c.1866-11C>T rs782126372 0.00001
NM_000033.4(ABCD1):c.1866-19T>C rs782013663 0.00001
NM_000033.4(ABCD1):c.1866-7C>A rs1569541199 0.00001
NM_000033.4(ABCD1):c.1881C>T (p.Leu627=) rs782072619 0.00001
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=) rs1557055319 0.00001
NM_000033.4(ABCD1):c.1947C>T (p.Asp649=) rs1483248084 0.00001
NM_000033.4(ABCD1):c.1960C>T (p.Leu654=) rs782809410 0.00001
NM_000033.4(ABCD1):c.1991+8C>T rs2091774199 0.00001
NM_000033.4(ABCD1):c.19C>T (p.Pro7Ser) rs1557052134 0.00001
NM_000033.4(ABCD1):c.2022T>C (p.Asp674=) rs2091775214 0.00001
NM_000033.4(ABCD1):c.2184T>C (p.His728=) rs1557055466 0.00001
NM_000033.4(ABCD1):c.234C>T (p.Leu78=) rs940741241 0.00001
NM_000033.4(ABCD1):c.252C>T (p.Pro84=) rs1557052276 0.00001
NM_000033.4(ABCD1):c.297C>T (p.Ala99=) rs889405096 0.00001
NM_000033.4(ABCD1):c.300C>G (p.Ala100=) rs782098898 0.00001
NM_000033.4(ABCD1):c.30G>C (p.Trp10Cys) rs1304001811 0.00001
NM_000033.4(ABCD1):c.345C>T (p.Asp115=) rs1557052311 0.00001
NM_000033.4(ABCD1):c.355G>T (p.Ala119Ser) rs781846746 0.00001
NM_000033.4(ABCD1):c.403C>T (p.Leu135=) rs1448083307 0.00001
NM_000033.4(ABCD1):c.435C>G (p.Thr145=) rs782377368 0.00001
NM_000033.4(ABCD1):c.474G>A (p.Leu158=) rs1557052373 0.00001
NM_000033.4(ABCD1):c.477C>T (p.Ala159=) rs782481544 0.00001
NM_000033.4(ABCD1):c.483G>A (p.Ser161=) rs369052808 0.00001
NM_000033.4(ABCD1):c.514C>T (p.Arg172Cys) rs782653223 0.00001
NM_000033.4(ABCD1):c.528C>G (p.Ser176=) rs1557052393 0.00001
NM_000033.4(ABCD1):c.561C>T (p.Asp187=) rs781987852 0.00001
NM_000033.4(ABCD1):c.562G>A (p.Gly188Arg) rs782137558 0.00001
NM_000033.4(ABCD1):c.572G>A (p.Arg191His) rs1373052080 0.00001
NM_000033.4(ABCD1):c.57C>G (p.Ala19=) rs1603231679 0.00001
NM_000033.4(ABCD1):c.59T>A (p.Val20Glu) rs782480731 0.00001
NM_000033.4(ABCD1):c.663C>T (p.Asp221=) rs1557052447 0.00001
NM_000033.4(ABCD1):c.668C>T (p.Ala223Val) rs782230740 0.00001
NM_000033.4(ABCD1):c.66G>T (p.Leu22=) rs1557052169 0.00001
NM_000033.4(ABCD1):c.6G>T (p.Pro2=) rs2091702415 0.00001
NM_000033.4(ABCD1):c.701G>A (p.Arg234His) rs782723557 0.00001
NM_000033.4(ABCD1):c.714C>T (p.Ala238=) rs781906112 0.00001
NM_000033.4(ABCD1):c.715G>A (p.Gly239Ser) rs782517563 0.00001
NM_000033.4(ABCD1):c.741C>T (p.Ala247=) rs1330944398 0.00001
NM_000033.4(ABCD1):c.786G>A (p.Ser262=) rs1020447716 0.00001
NM_000033.4(ABCD1):c.819G>A (p.Ala273=) rs782165410 0.00001
NM_000033.4(ABCD1):c.879C>T (p.Ile293=) rs1176122000 0.00001
NM_000033.4(ABCD1):c.900+17T>A rs782133823 0.00001
NM_000033.4(ABCD1):c.906G>A (p.Glu302=) rs782178199 0.00001
NM_000033.4(ABCD1):c.923G>A (p.Arg308His) rs781978255 0.00001
NM_000033.4(ABCD1):c.924C>T (p.Arg308=) rs1382047048 0.00001
NM_000033.4(ABCD1):c.944C>T (p.Ser315Leu) rs782726660 0.00001
NM_000033.4(ABCD1):c.-20C>T rs782004770
NM_000033.4(ABCD1):c.1002C>G (p.Leu334=) rs2148392000
NM_000033.4(ABCD1):c.1029C>T (p.Gly343=) rs2091726826
NM_000033.4(ABCD1):c.1035C>T (p.Leu345=) rs2148392032
NM_000033.4(ABCD1):c.1047C>T (p.Val349=) rs185931852
NM_000033.4(ABCD1):c.1050C>T (p.Pro350=) rs2522276493
NM_000033.4(ABCD1):c.1059T>C (p.Thr353=) rs2148392053
NM_000033.4(ABCD1):c.1081+13G>A rs2091727113
NM_000033.4(ABCD1):c.1081+13G>C rs2091727113
NM_000033.4(ABCD1):c.1081+20G>C rs781947071
NM_000033.4(ABCD1):c.1081+9_1081+10insCAAG rs2148392098
NM_000033.4(ABCD1):c.1082-13T>C rs2148395341
NM_000033.4(ABCD1):c.1082-13T>G rs2148395341
NM_000033.4(ABCD1):c.1082-14C>G
NM_000033.4(ABCD1):c.1082-15T>A rs200250434
NM_000033.4(ABCD1):c.1082-15T>C rs200250434
NM_000033.4(ABCD1):c.1082-15T>G rs200250434
NM_000033.4(ABCD1):c.1082-16C>T rs2148395336
NM_000033.4(ABCD1):c.1082-19C>T rs374337788
NM_000033.4(ABCD1):c.1082-20A>C rs781831366
NM_000033.4(ABCD1):c.1082-20A>G rs781831366
NM_000033.4(ABCD1):c.1082-4G>A rs1557054152
NM_000033.4(ABCD1):c.1082-7T>G rs2148395353
NM_000033.4(ABCD1):c.1082-8C>T rs2148395351
NM_000033.4(ABCD1):c.1083T>C (p.Asp361=) rs201973942
NM_000033.4(ABCD1):c.1089G>A (p.Glu363=) rs2522287972
NM_000033.4(ABCD1):c.108G>T (p.Val36=) rs368718078
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=) rs782250326
NM_000033.4(ABCD1):c.1093G>A (p.Val365Met) rs782518797
NM_000033.4(ABCD1):c.1093G>C (p.Val365Leu) rs782518797
NM_000033.4(ABCD1):c.1094T>A (p.Val365Glu) rs1557054160
NM_000033.4(ABCD1):c.1107C>T (p.Ala369=) rs2148395382
NM_000033.4(ABCD1):c.1119G>A (p.Lys373=) rs782224496
NM_000033.4(ABCD1):c.1122G>A (p.Glu374=) rs2522288097
NM_000033.4(ABCD1):c.1146A>G (p.Thr382=) rs2522288208
NM_000033.4(ABCD1):c.114G>A (p.Gln38=) rs2148388662
NM_000033.4(ABCD1):c.1158T>A (p.Thr386=) rs1457499496
NM_000033.4(ABCD1):c.1164C>T (p.Ala388=) rs2148395439
NM_000033.4(ABCD1):c.1167C>T (p.Arg389=) rs2522288292
NM_000033.4(ABCD1):c.1179A>C (p.Thr393=) rs781904354
NM_000033.4(ABCD1):c.1179A>G (p.Thr393=) rs781904354
NM_000033.4(ABCD1):c.117C>T (p.Cys39=) rs1557052192
NM_000033.4(ABCD1):c.1182G>T (p.Ala394=) rs782515233
NM_000033.4(ABCD1):c.1212G>C (p.Ser404=) rs375656638
NM_000033.4(ABCD1):c.1212G>T (p.Ser404=) rs375656638
NM_000033.4(ABCD1):c.1215G>C (p.Ser405=)
NM_000033.4(ABCD1):c.1224+20A>C rs2522288632
NM_000033.4(ABCD1):c.1224+7C>T rs2522288596
NM_000033.4(ABCD1):c.1224+8del rs1440978011
NM_000033.4(ABCD1):c.1225-10C>T rs2148395562
NM_000033.4(ABCD1):c.1225-11C>A rs2522288816
NM_000033.4(ABCD1):c.1225-15G>A rs2522288795
NM_000033.4(ABCD1):c.1225-7C>T rs2091749716
NM_000033.4(ABCD1):c.1229C>T (p.Thr410Met) rs782373145
NM_000033.4(ABCD1):c.123C>A (p.Ala41=) rs2091703479
NM_000033.4(ABCD1):c.1251C>T (p.Ala417=) rs1557054208
NM_000033.4(ABCD1):c.1260C>T (p.His420=) rs782066367
NM_000033.4(ABCD1):c.1263G>A (p.Glu421=) rs2148395615
NM_000033.4(ABCD1):c.1272G>A (p.Gln424=) rs1208584591
NM_000033.4(ABCD1):c.1290G>A (p.Gln430=) rs2148395631
NM_000033.4(ABCD1):c.1292G>A (p.Arg431His) rs781844128
NM_000033.4(ABCD1):c.1296T>C (p.Cys432=) rs1374179049
NM_000033.4(ABCD1):c.129C>G (p.Ala43=) rs2148388691
NM_000033.4(ABCD1):c.12C>G (p.Leu4=) rs2148388518
NM_000033.4(ABCD1):c.12C>T (p.Leu4=) rs2148388518
NM_000033.4(ABCD1):c.1326C>G (p.Asp442Glu) rs782419455
NM_000033.4(ABCD1):c.1329T>C (p.Ala443=) rs2148395665
NM_000033.4(ABCD1):c.1338G>C (p.Gly446=) rs2091750314
NM_000033.4(ABCD1):c.1354C>A (p.Arg452=) rs368061976
NM_000033.4(ABCD1):c.1356G>A (p.Arg452=) rs2148395685
NM_000033.4(ABCD1):c.1377C>G (p.Gly459=) rs1557054238
NM_000033.4(ABCD1):c.1377C>T (p.Gly459=) rs1557054238
NM_000033.4(ABCD1):c.1393+13C>A rs2091750697
NM_000033.4(ABCD1):c.1393+14C>T rs782544737
NM_000033.4(ABCD1):c.1393+8T>C rs2091750670
NM_000033.4(ABCD1):c.1393+8_1393+9delinsGT rs2522289759
NM_000033.4(ABCD1):c.1393+9G>T rs1569541019
NM_000033.4(ABCD1):c.1394-10G>A rs2522291372
NM_000033.4(ABCD1):c.1394-10G>C rs2522291372
NM_000033.4(ABCD1):c.1394-10_1394-9del rs2148396014
NM_000033.4(ABCD1):c.1394-17C>T rs2522291359
NM_000033.4(ABCD1):c.1394-18G>T rs782257884
NM_000033.4(ABCD1):c.1395C>T (p.Gly465=) rs2522291411
NM_000033.4(ABCD1):c.1401G>A (p.Val467=) rs1603234733
NM_000033.4(ABCD1):c.1419G>A (p.Gly473=) rs2148396042
NM_000033.4(ABCD1):c.1419G>C (p.Gly473=) rs2148396042
NM_000033.4(ABCD1):c.141G>A (p.Gln47=) rs868911691
NM_000033.4(ABCD1):c.1428C>G (p.Cys476Trp) rs141446687
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.4(ABCD1):c.1431G>A (p.Glu477=) rs2522291596
NM_000033.4(ABCD1):c.1434C>T (p.Asn478=) rs2148396060
NM_000033.4(ABCD1):c.1437C>T (p.Ile479=)
NM_000033.4(ABCD1):c.1441A>G (p.Ile481Val) rs1557054321
NM_000033.4(ABCD1):c.1449G>A (p.Thr483=) rs1453531275
NM_000033.4(ABCD1):c.144G>A (p.Ala48=) rs1557052209
NM_000033.4(ABCD1):c.1458A>G (p.Gly486=) rs2091753037
NM_000033.4(ABCD1):c.1464G>C (p.Val488=) rs2148396096
NM_000033.4(ABCD1):c.1476C>T (p.Ser492=) rs2148396110
NM_000033.4(ABCD1):c.147C>T (p.Pro49=) rs782397391
NM_000033.4(ABCD1):c.1485C>T (p.Ile495=) rs1557054328
NM_000033.4(ABCD1):c.1488+10G>A rs1847185945
NM_000033.4(ABCD1):c.1488+17G>C rs2522291885
NM_000033.4(ABCD1):c.1488+7C>T rs2522291842
NM_000033.4(ABCD1):c.1488+9A>G rs1603234781
NM_000033.4(ABCD1):c.1489-10G>A rs2522296866
NM_000033.4(ABCD1):c.1489-17G>A rs375632296
NM_000033.4(ABCD1):c.1489-17G>C rs375632296
NM_000033.4(ABCD1):c.1489-18C>A
NM_000033.4(ABCD1):c.1489-18C>T rs1557054724
NM_000033.4(ABCD1):c.1489-20A>G rs2522296820
NM_000033.4(ABCD1):c.1489-4G>C rs1318153626
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1489-9C>A rs782323354
NM_000033.4(ABCD1):c.1494G>A (p.Glu498=) rs2091762206
NM_000033.4(ABCD1):c.150C>T (p.Ala50=) rs1932354237
NM_000033.4(ABCD1):c.1554G>A (p.Arg518=) rs1413202385
NM_000033.4(ABCD1):c.1569C>G (p.Leu523=) rs2148397606
NM_000033.4(ABCD1):c.1578G>A (p.Thr526=) rs2091762690
NM_000033.4(ABCD1):c.1596C>T (p.Tyr532=) rs2148397628
NM_000033.4(ABCD1):c.1605A>G (p.Pro535=) rs2091762849
NM_000033.4(ABCD1):c.1608C>T (p.Pro536=) rs2522297464
NM_000033.4(ABCD1):c.1611G>C (p.Gln537His) rs782514164
NM_000033.4(ABCD1):c.1629G>T (p.Pro543=) rs782278443
NM_000033.4(ABCD1):c.162G>A (p.Thr54=) rs782208191
NM_000033.4(ABCD1):c.1634+11C>G rs2522297629
NM_000033.4(ABCD1):c.1634+9G>A rs2148397684
NM_000033.4(ABCD1):c.1657C>T (p.Leu553=) rs2148397902
NM_000033.4(ABCD1):c.1659G>A (p.Leu553=) rs2522298660
NM_000033.4(ABCD1):c.1671G>T (p.Val557=)
NM_000033.4(ABCD1):c.1683C>T (p.Asp561=) rs199997983
NM_000033.4(ABCD1):c.1692G>A (p.Glu564=) rs2522298775
NM_000033.4(ABCD1):c.1716G>T (p.Ser572=) rs1482177539
NM_000033.4(ABCD1):c.1719G>A (p.Glu573=) rs2148397951
NM_000033.4(ABCD1):c.171C>T (p.Ala57=) rs782317790
NM_000033.4(ABCD1):c.1734C>T (p.Ala578=) rs782803612
NM_000033.4(ABCD1):c.173C>T (p.Ser58Phe) rs781943986
NM_000033.4(ABCD1):c.1746C>G (p.Val582=) rs1557054863
NM_000033.4(ABCD1):c.174C>A (p.Ser58=)
NM_000033.4(ABCD1):c.174C>T (p.Ser58=) rs782819655
NM_000033.4(ABCD1):c.1773G>C (p.Arg591=) rs2091765039
NM_000033.4(ABCD1):c.177G>A (p.Gly59=) rs2148388761
NM_000033.4(ABCD1):c.1780+14G>A rs2522299168
NM_000033.4(ABCD1):c.1780+7G>A rs2148398011
NM_000033.4(ABCD1):c.1781-10C>T
NM_000033.4(ABCD1):c.1781-15A>G
NM_000033.4(ABCD1):c.1781-16C>A rs781992192
NM_000033.4(ABCD1):c.1781-16C>G rs781992192
NM_000033.4(ABCD1):c.1781-16C>T rs781992192
NM_000033.4(ABCD1):c.1788G>A (p.Glu596=) rs2091772048
NM_000033.4(ABCD1):c.180C>A (p.Val60=) rs2148388770
NM_000033.4(ABCD1):c.180C>T (p.Val60=) rs2148388770
NM_000033.4(ABCD1):c.1812C>T (p.Val604=) rs2522302615
NM_000033.4(ABCD1):c.1815G>C (p.Leu605=) rs782445495
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1818G>C (p.Ser606=) rs140263823
NM_000033.4(ABCD1):c.1821T>G (p.Gly607=) rs2522302660
NM_000033.4(ABCD1):c.1824C>A (p.Gly608=) rs782334683
NM_000033.4(ABCD1):c.1830G>A (p.Lys610=) rs2522302695
NM_000033.4(ABCD1):c.1860C>T (p.Tyr620=) rs2148399072
NM_000033.4(ABCD1):c.1865+7A>G rs2522302852
NM_000033.4(ABCD1):c.1866-10G>T rs398123108
NM_000033.4(ABCD1):c.1866-13C>T rs200238438
NM_000033.4(ABCD1):c.1866-14G>T
NM_000033.4(ABCD1):c.1866-16C>T rs202070199
NM_000033.4(ABCD1):c.1866-4C>T rs2091773412
NM_000033.4(ABCD1):c.1866-7C>T rs1569541199
NM_000033.4(ABCD1):c.1875C>T (p.Tyr625=) rs1557055315
NM_000033.4(ABCD1):c.189C>G (p.Ala63=) rs781837108
NM_000033.4(ABCD1):c.189C>T (p.Ala63=) rs781837108
NM_000033.4(ABCD1):c.1905G>T (p.Val635=) rs1458996259
NM_000033.4(ABCD1):c.1917G>A (p.Val639=) rs1557055330
NM_000033.4(ABCD1):c.1920A>G (p.Glu640=) rs2148399250
NM_000033.4(ABCD1):c.1929C>A (p.Ile643=) rs2148399255
NM_000033.4(ABCD1):c.1932C>T (p.Phe644=) rs2148399261
NM_000033.4(ABCD1):c.1935G>A (p.Gln645=) rs2522303478
NM_000033.4(ABCD1):c.1941C>T (p.Ala647=) rs2148399272
NM_000033.4(ABCD1):c.1944G>A (p.Lys648=) rs2148399276
NM_000033.4(ABCD1):c.1950G>C (p.Ala650=) rs74315281
NM_000033.4(ABCD1):c.1965C>G (p.Leu655=) rs2522303673
NM_000033.4(ABCD1):c.1965C>T (p.Leu655=) rs2522303673
NM_000033.4(ABCD1):c.1968C>T (p.Ser656=) rs2522303689
NM_000033.4(ABCD1):c.1983C>T (p.Pro661=) rs2522303742
NM_000033.4(ABCD1):c.1986C>G (p.Ser662=) rs2148399324
NM_000033.4(ABCD1):c.198C>T (p.Gly66=) rs782447609
NM_000033.4(ABCD1):c.1991+10C>G rs1557055349
NM_000033.4(ABCD1):c.1991+14C>T rs2522303813
NM_000033.4(ABCD1):c.1992-10T>C rs2148399435
NM_000033.4(ABCD1):c.1992-4C>T rs1557055386
NM_000033.4(ABCD1):c.1992-8C>T rs1603236074
NM_000033.4(ABCD1):c.1992-9C>A rs1424057229
NM_000033.4(ABCD1):c.1992-9C>T rs1424057229
NM_000033.4(ABCD1):c.2043C>G (p.Phe681Leu) rs782327280
NM_000033.4(ABCD1):c.2049G>A (p.Lys683=) rs1569541208
NM_000033.4(ABCD1):c.2076G>A (p.Leu692=) rs1557055415
NM_000033.4(ABCD1):c.2082G>A (p.Glu694=) rs2148399523
NM_000033.4(ABCD1):c.2088G>A (p.Lys696=) rs1557055422
NM_000033.4(ABCD1):c.2103G>A (p.Gln701=) rs1302166753
NM_000033.4(ABCD1):c.2107C>T (p.Leu703=) rs2148399557
NM_000033.4(ABCD1):c.2112G>C (p.Ala704=)
NM_000033.4(ABCD1):c.2118T>A (p.Ile706=) rs1557055431
NM_000033.4(ABCD1):c.2124G>A (p.Lys708=) rs1557055435
NM_000033.4(ABCD1):c.2136C>T (p.Arg712=) rs2522304765
NM_000033.4(ABCD1):c.2139C>T (p.Leu713=) rs2091775920
NM_000033.4(ABCD1):c.2148C>T (p.Leu716=) rs2522304802
NM_000033.4(ABCD1):c.214C>T (p.Leu72=) rs2148388808
NM_000033.4(ABCD1):c.2160G>A (p.Leu720=) rs2522304829
NM_000033.4(ABCD1):c.2163C>G (p.Gly721=)
NM_000033.4(ABCD1):c.2169C>G (p.Ala723=) rs1557055461
NM_000033.4(ABCD1):c.2178A>C (p.Pro726=) rs2148399612
NM_000033.4(ABCD1):c.2178A>G (p.Pro726=) rs2148399612
NM_000033.4(ABCD1):c.2190G>C (p.Pro730=) rs193922096
NM_000033.4(ABCD1):c.2199C>T (p.Ser733=) rs2148399640
NM_000033.4(ABCD1):c.21C>T (p.Pro7=) rs2148388528
NM_000033.4(ABCD1):c.2208C>T (p.Gly736=) rs2522304995
NM_000033.4(ABCD1):c.2211T>C (p.Pro737=) rs2522305012
NM_000033.4(ABCD1):c.2214T>A (p.Gly738=) rs2148399657
NM_000033.4(ABCD1):c.225C>A (p.Leu75=) rs781883009
NM_000033.4(ABCD1):c.244C>T (p.Leu82=) rs2091704763
NM_000033.4(ABCD1):c.246G>A (p.Leu82=)
NM_000033.4(ABCD1):c.273G>A (p.Thr91=) rs2148388896
NM_000033.4(ABCD1):c.277C>T (p.Leu93=)
NM_000033.4(ABCD1):c.282G>A (p.Leu94=) rs2148388909
NM_000033.4(ABCD1):c.285C>A (p.Ala95=) rs1557052287
NM_000033.4(ABCD1):c.285C>T (p.Ala95=) rs1557052287
NM_000033.4(ABCD1):c.286C>T (p.Leu96=) rs1557052288
NM_000033.4(ABCD1):c.297C>G (p.Ala99=) rs889405096
NM_000033.4(ABCD1):c.298G>A (p.Ala100Thr) rs1557052298
NM_000033.4(ABCD1):c.300C>A (p.Ala100=) rs782098898
NM_000033.4(ABCD1):c.306G>A (p.Val102=) rs2148388966
NM_000033.4(ABCD1):c.318C>T (p.Phe106=) rs2522264816
NM_000033.4(ABCD1):c.324G>C (p.Ser108=) rs2091705656
NM_000033.4(ABCD1):c.324G>T (p.Ser108=) rs2091705656
NM_000033.4(ABCD1):c.327G>A (p.Val109=) rs2522264903
NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro) rs782122122
NM_000033.4(ABCD1):c.351G>A (p.Arg117=) rs1401231540
NM_000033.4(ABCD1):c.352C>T (p.Leu118=) rs2522265095
NM_000033.4(ABCD1):c.357C>T (p.Ala119=) rs1603231862
NM_000033.4(ABCD1):c.366C>T (p.Ile122=) rs1557052319
NM_000033.4(ABCD1):c.372C>G (p.Arg124=) rs2148389085
NM_000033.4(ABCD1):c.378C>T (p.Asp126=) rs2091706175
NM_000033.4(ABCD1):c.383G>C (p.Arg128Pro) rs782661286
NM_000033.4(ABCD1):c.390T>C (p.Phe130=) rs2148389114
NM_000033.4(ABCD1):c.408G>A (p.Gln136=) rs2522265444
NM_000033.4(ABCD1):c.414C>A (p.Leu138=) rs782197275
NM_000033.4(ABCD1):c.423C>T (p.Ala141=) rs2091706712
NM_000033.4(ABCD1):c.438C>T (p.Phe146=) rs2522265630
NM_000033.4(ABCD1):c.439G>A (p.Val147Ile) rs782720766
NM_000033.4(ABCD1):c.43C>T (p.Leu15=) rs2148388577
NM_000033.4(ABCD1):c.441C>T (p.Val147=) rs2148389207
NM_000033.4(ABCD1):c.450C>T (p.Ala150=) rs2522265676
NM_000033.4(ABCD1):c.45G>A (p.Leu15=) rs2522262819
NM_000033.4(ABCD1):c.460C>T (p.Leu154=) rs781895141
NM_000033.4(ABCD1):c.478C>T (p.Leu160=) rs2091707295
NM_000033.4(ABCD1):c.480G>A (p.Leu160=) rs2148389255
NM_000033.4(ABCD1):c.489C>T (p.Arg163=) rs2522266000
NM_000033.4(ABCD1):c.495T>G (p.Arg165=) rs2148389295
NM_000033.4(ABCD1):c.498G>A (p.Leu166=) rs781789103
NM_000033.4(ABCD1):c.501G>C (p.Val167=) rs2148389307
NM_000033.4(ABCD1):c.504C>T (p.Ala168=) rs782453684
NM_000033.4(ABCD1):c.513C>T (p.Tyr171=) rs2522266159
NM_000033.4(ABCD1):c.531G>A (p.Gln177=) rs2522266298
NM_000033.4(ABCD1):c.53C>A (p.Thr18Lys) rs1557052159
NM_000033.4(ABCD1):c.546G>A (p.Arg182=) rs2091708238
NM_000033.4(ABCD1):c.546G>T (p.Arg182=) rs2091708238
NM_000033.4(ABCD1):c.549C>G (p.Val183=) rs1169791916
NM_000033.4(ABCD1):c.564G>C (p.Gly188=) rs1603232017
NM_000033.4(ABCD1):c.573C>A (p.Arg191=) rs2522266543
NM_000033.4(ABCD1):c.579T>G (p.Pro193=) rs2522266587
NM_000033.4(ABCD1):c.57C>T (p.Ala19=) rs1603231679
NM_000033.4(ABCD1):c.582C>T (p.Asp194=) rs1569540703
NM_000033.4(ABCD1):c.588T>C (p.Ser196=) rs2522266662
NM_000033.4(ABCD1):c.589C>T (p.Leu197=) rs2148389466
NM_000033.4(ABCD1):c.591G>A (p.Leu197=) rs2148389468
NM_000033.4(ABCD1):c.594G>C (p.Thr198=) rs782046246
NM_000033.4(ABCD1):c.603G>T (p.Val201=) rs2522266751
NM_000033.4(ABCD1):c.609C>G (p.Ala203=) rs2522266775
NM_000033.4(ABCD1):c.615G>A (p.Ala205=) rs782601474
NM_000033.4(ABCD1):c.633C>G (p.Leu211=) rs145009407
NM_000033.4(ABCD1):c.648C>G (p.Thr216=) rs782200450
NM_000033.4(ABCD1):c.648C>T (p.Thr216=) rs782200450
NM_000033.4(ABCD1):c.658C>T (p.Leu220=) rs2148389558
NM_000033.4(ABCD1):c.669T>C (p.Ala223=) rs2148389594
NM_000033.4(ABCD1):c.66G>C (p.Leu22=) rs1557052169
NM_000033.4(ABCD1):c.674C>T (p.Thr225Ile) rs782305445
NM_000033.4(ABCD1):c.675T>C (p.Thr225=) rs1557052463
NM_000033.4(ABCD1):c.684C>T (p.Thr228=) rs2148389624
NM_000033.4(ABCD1):c.696G>A (p.Ala232=) rs147595334
NM_000033.4(ABCD1):c.6G>A (p.Pro2=) rs2091702415
NM_000033.4(ABCD1):c.702C>T (p.Arg234=) rs2148389678
NM_000033.4(ABCD1):c.708T>G (p.Arg236=) rs2522267403
NM_000033.4(ABCD1):c.720A>C (p.Thr240=) rs1302310288
NM_000033.4(ABCD1):c.732G>C (p.Ser244=) rs782643462
NM_000033.4(ABCD1):c.732G>T (p.Ser244=) rs782643462
NM_000033.4(ABCD1):c.738C>T (p.Ile246=) rs2148389730
NM_000033.4(ABCD1):c.747C>G (p.Leu249=) rs2091710297
NM_000033.4(ABCD1):c.747C>T (p.Leu249=) rs2091710297
NM_000033.4(ABCD1):c.750G>A (p.Val250=) rs782196006
NM_000033.4(ABCD1):c.750G>C (p.Val250=) rs782196006
NM_000033.4(ABCD1):c.75G>A (p.Ala25=) rs2522263033
NM_000033.4(ABCD1):c.762G>A (p.Thr254=) rs1557052528
NM_000033.4(ABCD1):c.762G>C (p.Thr254=) rs1557052528
NM_000033.4(ABCD1):c.762G>T (p.Thr254=) rs1557052528
NM_000033.4(ABCD1):c.765C>G (p.Ala255=) rs2148389784
NM_000033.4(ABCD1):c.780C>A (p.Ala260=) rs1557052540
NM_000033.4(ABCD1):c.798G>A (p.Gly266=) rs2148389855
NM_000033.4(ABCD1):c.804G>A (p.Leu268=) rs1270284411
NM_000033.4(ABCD1):c.804G>C (p.Leu268=) rs1270284411
NM_000033.4(ABCD1):c.825G>A (p.Arg275=) rs2148389893
NM_000033.4(ABCD1):c.828G>A (p.Lys276=) rs2148389897
NM_000033.4(ABCD1):c.849C>T (p.His283=)
NM_000033.4(ABCD1):c.852G>A (p.Ser284=) rs1034154728
NM_000033.4(ABCD1):c.855T>C (p.Arg285=) rs1471236066
NM_000033.4(ABCD1):c.859G>A (p.Val287Met) rs782206393
NM_000033.4(ABCD1):c.888T>C (p.Tyr296=) rs2091712169
NM_000033.4(ABCD1):c.900+18G>A rs2522268929
NM_000033.4(ABCD1):c.900+20C>T rs2091712512
NM_000033.4(ABCD1):c.900+8A>G rs2148390036
NM_000033.4(ABCD1):c.901-18G>A rs781783657
NM_000033.4(ABCD1):c.901-18_901-17del
NM_000033.4(ABCD1):c.901-20G>C
NM_000033.4(ABCD1):c.901-4G>C rs782306934
NM_000033.4(ABCD1):c.901-6C>G rs2522275829
NM_000033.4(ABCD1):c.901-8C>T rs2522275816
NM_000033.4(ABCD1):c.901-9C>T rs782602840
NM_000033.4(ABCD1):c.912C>G (p.Ala304=) rs1402264312
NM_000033.4(ABCD1):c.936C>T (p.Asp312=) rs782131008
NM_000033.4(ABCD1):c.93A>G (p.Lys31=) rs2148388633
NM_000033.4(ABCD1):c.945G>T (p.Ser315=) rs145545199
NM_000033.4(ABCD1):c.948G>A (p.Gln316=) rs2148391960
NM_000033.4(ABCD1):c.951C>A (p.Ile317=) rs2148391963
NM_000033.4(ABCD1):c.957C>G (p.Leu319=) rs2522276116
NM_000033.4(ABCD1):c.960C>T (p.Ile320=) rs1557053225
NM_000033.4(ABCD1):c.963T>C (p.Leu321=) rs2522276138
NM_000033.4(ABCD1):c.975G>T (p.Leu325=) rs2522276189
NM_000033.4(ABCD1):c.981T>C (p.Tyr327=) rs1179912920

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