ClinVar Miner

List of variants in gene ABCD1 reported as likely benign for X-linked disease

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 529
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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 0.01092
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 0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00060
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.1581C>T (p.Tyr527=) rs145073701 0.00034
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945 0.00033
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.901-5C>T rs782603062 0.00015
NM_000033.4(ABCD1):c.1780+4G>A rs193922095 0.00014
NM_000033.4(ABCD1):c.420C>A (p.Ile140=) rs74315279 0.00014
NM_000033.4(ABCD1):c.1521C>T (p.Gly507=) rs373442692 0.00013
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261 0.00013
NM_000033.4(ABCD1):c.2202G>A (p.Pro734=) rs782093609 0.00012
NM_000033.4(ABCD1):c.50G>A (p.Arg17His) rs782693577 0.00011
NM_000033.4(ABCD1):c.108G>A (p.Val36=) rs368718078 0.00010
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=) rs782742220 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.821G>A (p.Arg274Gln) rs781874815 0.00008
NM_000033.4(ABCD1):c.1125G>A (p.Glu375=) rs781928741 0.00007
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser) rs146525445 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.1865+12G>A rs373638861 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.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.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.40A>G (p.Thr14Ala) rs781900720 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.900+10G>C rs1177363482 0.00004
NM_000033.4(ABCD1):c.1142G>A (p.Arg381His) rs782755297 0.00003
NM_000033.4(ABCD1):c.1518A>T (p.Thr506=) rs1557054743 0.00003
NM_000033.4(ABCD1):c.1620C>T (p.Phe540=) rs782581290 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.436T>A (p.Phe146Ile) rs782720024 0.00003
NM_000033.4(ABCD1):c.732G>A (p.Ser244=) rs782643462 0.00003
NM_000033.4(ABCD1):c.1152C>T (p.Ala384=) rs782095899 0.00002
NM_000033.4(ABCD1):c.1212G>A (p.Ser404=) rs375656638 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.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.321G>A (p.Leu107=) rs375790297 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.477C>T (p.Ala159=) rs782481544 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.795C>T (p.Phe265=) rs782336092 0.00002
NM_000033.4(ABCD1):c.819G>A (p.Ala273=) rs782165410 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.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.1257G>A (p.Val419=) rs1603234541 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.1317G>A (p.Glu439=) rs200522486 0.00001
NM_000033.4(ABCD1):c.1335G>A (p.Ala445=) rs782339121 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.1394-5T>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.1489-18C>T rs1557054724 0.00001
NM_000033.4(ABCD1):c.1542C>T (p.Ser514=) rs149643908 0.00001
NM_000033.4(ABCD1):c.1617G>A (p.Met539Ile) rs927479436 0.00001
NM_000033.4(ABCD1):c.1680G>A (p.Pro560=) rs782005164 0.00001
NM_000033.4(ABCD1):c.1716G>A (p.Ser572=) rs1482177539 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.1781-9C>T rs1447645678 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.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.2022T>C (p.Asp674=) rs2091775214 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.345C>T (p.Asp115=) rs1557052311 0.00001
NM_000033.4(ABCD1):c.403C>T (p.Leu135=) rs1448083307 0.00001
NM_000033.4(ABCD1):c.483G>A (p.Ser161=) rs369052808 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.57C>G (p.Ala19=) rs1603231679 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.675T>C (p.Thr225=) rs1557052463 0.00001
NM_000033.4(ABCD1):c.692G>A (p.Arg231Gln) rs782143050 0.00001
NM_000033.4(ABCD1):c.714C>T (p.Ala238=) rs781906112 0.00001
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu) rs200849757 0.00001
NM_000033.4(ABCD1):c.786G>A (p.Ser262=) rs1020447716 0.00001
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val) rs781970988 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.944C>T (p.Ser315Leu) rs782726660 0.00001
NM_000033.4(ABCD1):c.960C>T (p.Ile320=) rs1557053225 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=)
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=)
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=) rs1887821307
NM_000033.4(ABCD1):c.1059T>C (p.Thr353=) rs2148392053
NM_000033.4(ABCD1):c.1072T>C (p.Ser358Pro)
NM_000033.4(ABCD1):c.1081+13G>A
NM_000033.4(ABCD1):c.1081+13G>C
NM_000033.4(ABCD1):c.1081+20G>C
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
NM_000033.4(ABCD1):c.1082-15T>A
NM_000033.4(ABCD1):c.1082-15T>C
NM_000033.4(ABCD1):c.1082-15T>G
NM_000033.4(ABCD1):c.1082-16C>T rs2148395336
NM_000033.4(ABCD1):c.1082-19C>T
NM_000033.4(ABCD1):c.1082-20A>C
NM_000033.4(ABCD1):c.1082-20A>G
NM_000033.4(ABCD1):c.1082-4G>A rs1557054152
NM_000033.4(ABCD1):c.1082-7T>G
NM_000033.4(ABCD1):c.1082-8C>T
NM_000033.4(ABCD1):c.1083T>C (p.Asp361=)
NM_000033.4(ABCD1):c.1089G>A (p.Glu363=)
NM_000033.4(ABCD1):c.108G>T (p.Val36=)
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)
NM_000033.4(ABCD1):c.1094T>A (p.Val365Glu)
NM_000033.4(ABCD1):c.109C>T (p.Arg37Cys)
NM_000033.4(ABCD1):c.1107C>T (p.Ala369=) rs2148395382
NM_000033.4(ABCD1):c.1119G>A (p.Lys373=)
NM_000033.4(ABCD1):c.1122G>A (p.Glu374=)
NM_000033.4(ABCD1):c.1146A>G (p.Thr382=)
NM_000033.4(ABCD1):c.114G>A (p.Gln38=) rs2148388662
NM_000033.4(ABCD1):c.1158T>A (p.Thr386=)
NM_000033.4(ABCD1):c.1164C>T (p.Ala388=) rs2148395439
NM_000033.4(ABCD1):c.1167C>T (p.Arg389=)
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.1211C>T (p.Ser404Leu)
NM_000033.4(ABCD1):c.1212G>C (p.Ser404=) rs375656638
NM_000033.4(ABCD1):c.1212G>T (p.Ser404=)
NM_000033.4(ABCD1):c.1224+20A>C
NM_000033.4(ABCD1):c.1224+7C>T
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
NM_000033.4(ABCD1):c.1225-15G>A
NM_000033.4(ABCD1):c.1225-7C>T rs2091749716
NM_000033.4(ABCD1):c.1229C>T (p.Thr410Met)
NM_000033.4(ABCD1):c.123C>A (p.Ala41=) rs2091703479
NM_000033.4(ABCD1):c.1251C>T (p.Ala417=)
NM_000033.4(ABCD1):c.125C>T (p.Pro42Leu)
NM_000033.4(ABCD1):c.1260C>T (p.His420=)
NM_000033.4(ABCD1):c.1263G>A (p.Glu421=) rs2148395615
NM_000033.4(ABCD1):c.1272G>A (p.Gln424=)
NM_000033.4(ABCD1):c.1290G>A (p.Gln430=) rs2148395631
NM_000033.4(ABCD1):c.1292G>A (p.Arg431His)
NM_000033.4(ABCD1):c.1295G>A (p.Cys432Tyr)
NM_000033.4(ABCD1):c.1296T>C (p.Cys432=)
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.1320A>G (p.Leu440=) rs1381466544
NM_000033.4(ABCD1):c.1326C>G (p.Asp442Glu)
NM_000033.4(ABCD1):c.1326C>T (p.Asp442=) rs782419455
NM_000033.4(ABCD1):c.1329T>C (p.Ala443=) rs2148395665
NM_000033.4(ABCD1):c.1338G>C (p.Gly446=)
NM_000033.4(ABCD1):c.1350A>G (p.Ile450Met)
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.1367G>A (p.Arg456His) rs782159028
NM_000033.4(ABCD1):c.1367G>C (p.Arg456Pro)
NM_000033.4(ABCD1):c.1377C>G (p.Gly459=) rs1557054238
NM_000033.4(ABCD1):c.1377C>T (p.Gly459=)
NM_000033.4(ABCD1):c.1393+13C>A
NM_000033.4(ABCD1):c.1393+14C>T
NM_000033.4(ABCD1):c.1393+8T>C rs2091750670
NM_000033.4(ABCD1):c.1393+8_1393+9delinsGT
NM_000033.4(ABCD1):c.1393+9G>T
NM_000033.4(ABCD1):c.1394-10G>A
NM_000033.4(ABCD1):c.1394-10G>C
NM_000033.4(ABCD1):c.1394-10_1394-9del rs2148396014
NM_000033.4(ABCD1):c.1394-15G>A
NM_000033.4(ABCD1):c.1394-17C>T
NM_000033.4(ABCD1):c.1394-18G>T
NM_000033.4(ABCD1):c.1395C>T (p.Gly465=)
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=)
NM_000033.4(ABCD1):c.141G>A (p.Gln47=)
NM_000033.4(ABCD1):c.1428C>G (p.Cys476Trp)
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.4(ABCD1):c.1429G>A (p.Glu477Lys)
NM_000033.4(ABCD1):c.1431G>A (p.Glu477=)
NM_000033.4(ABCD1):c.1434C>T (p.Asn478=) rs2148396060
NM_000033.4(ABCD1):c.143C>T (p.Ala48Val)
NM_000033.4(ABCD1):c.1441A>G (p.Ile481Val)
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+12G>A
NM_000033.4(ABCD1):c.1488+17G>C
NM_000033.4(ABCD1):c.1488+20C>G
NM_000033.4(ABCD1):c.1488+7C>T
NM_000033.4(ABCD1):c.1488+9A>G rs1603234781
NM_000033.4(ABCD1):c.1489-10G>A
NM_000033.4(ABCD1):c.1489-14T>C
NM_000033.4(ABCD1):c.1489-17G>A
NM_000033.4(ABCD1):c.1489-17G>C rs375632296
NM_000033.4(ABCD1):c.1489-20A>G
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.1489-9C>T
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.151G>A (p.Gly51Arg)
NM_000033.4(ABCD1):c.1554G>A (p.Arg518=)
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=)
NM_000033.4(ABCD1):c.1611G>C (p.Gln537His)
NM_000033.4(ABCD1):c.1615A>C (p.Met539Leu)
NM_000033.4(ABCD1):c.1623C>T (p.Tyr541=)
NM_000033.4(ABCD1):c.1629G>T (p.Pro543=)
NM_000033.4(ABCD1):c.162G>A (p.Thr54=)
NM_000033.4(ABCD1):c.1634+11C>G
NM_000033.4(ABCD1):c.1634+16C>T
NM_000033.4(ABCD1):c.1634+17G>A
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=)
NM_000033.4(ABCD1):c.1683C>T (p.Asp561=) rs199997983
NM_000033.4(ABCD1):c.1692G>A (p.Glu564=)
NM_000033.4(ABCD1):c.169G>A (p.Ala57Thr)
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>G (p.Ser58Cys)
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>T (p.Ser58=)
NM_000033.4(ABCD1):c.1773G>A (p.Arg591=) rs2091765039
NM_000033.4(ABCD1):c.1773G>C (p.Arg591=)
NM_000033.4(ABCD1):c.177G>A (p.Gly59=) rs2148388761
NM_000033.4(ABCD1):c.1780+14G>A
NM_000033.4(ABCD1):c.1780+7G>A rs2148398011
NM_000033.4(ABCD1):c.1781-16C>A
NM_000033.4(ABCD1):c.1781-16C>G
NM_000033.4(ABCD1):c.1781-16C>T rs781992192
NM_000033.4(ABCD1):c.1781-7C>T rs79915675
NM_000033.4(ABCD1):c.1788G>A (p.Glu596=)
NM_000033.4(ABCD1):c.1791T>C (p.Ala597=)
NM_000033.4(ABCD1):c.1809C>T (p.Asp603=) rs1228301857
NM_000033.4(ABCD1):c.180C>A (p.Val60=)
NM_000033.4(ABCD1):c.180C>T (p.Val60=) rs2148388770
NM_000033.4(ABCD1):c.1812C>T (p.Val604=)
NM_000033.4(ABCD1):c.1815G>C (p.Leu605=)
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=)
NM_000033.4(ABCD1):c.1824C>A (p.Gly608=)
NM_000033.4(ABCD1):c.1824C>T (p.Gly608=)
NM_000033.4(ABCD1):c.1830G>A (p.Lys610=)
NM_000033.4(ABCD1):c.1860C>T (p.Tyr620=) rs2148399072
NM_000033.4(ABCD1):c.1865+17G>A rs377149542
NM_000033.4(ABCD1):c.1865+7A>G
NM_000033.4(ABCD1):c.1866-10G>T rs398123108
NM_000033.4(ABCD1):c.1866-13C>T rs200238438
NM_000033.4(ABCD1):c.1866-16C>T
NM_000033.4(ABCD1):c.1866-18C>T
NM_000033.4(ABCD1):c.1866-19T>C
NM_000033.4(ABCD1):c.1866-4C>T rs2091773412
NM_000033.4(ABCD1):c.1866-7C>A
NM_000033.4(ABCD1):c.1866-7C>T rs1569541199
NM_000033.4(ABCD1):c.186G>A (p.Ala62=)
NM_000033.4(ABCD1):c.1875C>T (p.Tyr625=) rs1557055315
NM_000033.4(ABCD1):c.1881C>T (p.Leu627=) rs782072619
NM_000033.4(ABCD1):c.189C>G (p.Ala63=) rs781837108
NM_000033.4(ABCD1):c.189C>T (p.Ala63=)
NM_000033.4(ABCD1):c.1905G>T (p.Val635=)
NM_000033.4(ABCD1):c.1917G>A (p.Val639=)
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=)
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=)
NM_000033.4(ABCD1):c.1965C>T (p.Leu655=)
NM_000033.4(ABCD1):c.1968C>T (p.Ser656=)
NM_000033.4(ABCD1):c.1983C>T (p.Pro661=)
NM_000033.4(ABCD1):c.1986C>G (p.Ser662=) rs2148399324
NM_000033.4(ABCD1):c.198C>T (p.Gly66=)
NM_000033.4(ABCD1):c.1991+10C>G
NM_000033.4(ABCD1):c.1991+14C>T
NM_000033.4(ABCD1):c.1992-10T>C rs2148399435
NM_000033.4(ABCD1):c.1992-4C>T
NM_000033.4(ABCD1):c.1992-8C>T rs1603236074
NM_000033.4(ABCD1):c.1992-9C>A
NM_000033.4(ABCD1):c.1992-9C>T rs1424057229
NM_000033.4(ABCD1):c.19C>T (p.Pro7Ser)
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.2073C>A (p.Ser691Arg)
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=)
NM_000033.4(ABCD1):c.2103G>A (p.Gln701=)
NM_000033.4(ABCD1):c.2107C>T (p.Leu703=) rs2148399557
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=)
NM_000033.4(ABCD1):c.2139C>T (p.Leu713=)
NM_000033.4(ABCD1):c.2148C>T (p.Leu716=)
NM_000033.4(ABCD1):c.214C>T (p.Leu72=) rs2148388808
NM_000033.4(ABCD1):c.2160G>A (p.Leu720=)
NM_000033.4(ABCD1):c.2169C>G (p.Ala723=)
NM_000033.4(ABCD1):c.2178A>C (p.Pro726=) rs2148399612
NM_000033.4(ABCD1):c.2178A>G (p.Pro726=)
NM_000033.4(ABCD1):c.2184T>C (p.His728=)
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=)
NM_000033.4(ABCD1):c.2211T>C (p.Pro737=)
NM_000033.4(ABCD1):c.2214T>A (p.Gly738=) rs2148399657
NM_000033.4(ABCD1):c.225C>A (p.Leu75=)
NM_000033.4(ABCD1):c.244C>T (p.Leu82=)
NM_000033.4(ABCD1):c.266G>A (p.Arg89Gln)
NM_000033.4(ABCD1):c.273G>A (p.Thr91=) rs2148388896
NM_000033.4(ABCD1):c.282G>A (p.Leu94=) rs2148388909
NM_000033.4(ABCD1):c.285C>A (p.Ala95=)
NM_000033.4(ABCD1):c.285C>T (p.Ala95=)
NM_000033.4(ABCD1):c.286C>T (p.Leu96=)
NM_000033.4(ABCD1):c.297C>G (p.Ala99=) rs889405096
NM_000033.4(ABCD1):c.298G>A (p.Ala100Thr)
NM_000033.4(ABCD1):c.300C>A (p.Ala100=)
NM_000033.4(ABCD1):c.306G>A (p.Val102=) rs2148388966
NM_000033.4(ABCD1):c.30G>C (p.Trp10Cys)
NM_000033.4(ABCD1):c.318C>T (p.Phe106=)
NM_000033.4(ABCD1):c.324G>C (p.Ser108=)
NM_000033.4(ABCD1):c.324G>T (p.Ser108=)
NM_000033.4(ABCD1):c.327G>A (p.Val109=)
NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro) rs782122122
NM_000033.4(ABCD1):c.351G>A (p.Arg117=)
NM_000033.4(ABCD1):c.352C>T (p.Leu118=)
NM_000033.4(ABCD1):c.355G>T (p.Ala119Ser)
NM_000033.4(ABCD1):c.357C>T (p.Ala119=) rs1603231862
NM_000033.4(ABCD1):c.366C>T (p.Ile122=)
NM_000033.4(ABCD1):c.371G>A (p.Arg124His)
NM_000033.4(ABCD1):c.372C>G (p.Arg124=) rs2148389085
NM_000033.4(ABCD1):c.378C>T (p.Asp126=)
NM_000033.4(ABCD1):c.383G>C (p.Arg128Pro)
NM_000033.4(ABCD1):c.390T>C (p.Phe130=) rs2148389114
NM_000033.4(ABCD1):c.408G>A (p.Gln136=)
NM_000033.4(ABCD1):c.414C>A (p.Leu138=)
NM_000033.4(ABCD1):c.423C>T (p.Ala141=) rs2091706712
NM_000033.4(ABCD1):c.435C>G (p.Thr145=)
NM_000033.4(ABCD1):c.438C>T (p.Phe146=)
NM_000033.4(ABCD1):c.439G>A (p.Val147Ile)
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=)
NM_000033.4(ABCD1):c.45G>A (p.Leu15=)
NM_000033.4(ABCD1):c.460C>T (p.Leu154=) rs781895141
NM_000033.4(ABCD1):c.474G>A (p.Leu158=)
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=)
NM_000033.4(ABCD1):c.495T>G (p.Arg165=) rs2148389295
NM_000033.4(ABCD1):c.498G>A (p.Leu166=)
NM_000033.4(ABCD1):c.501G>C (p.Val167=) rs2148389307
NM_000033.4(ABCD1):c.504C>T (p.Ala168=)
NM_000033.4(ABCD1):c.513C>T (p.Tyr171=)
NM_000033.4(ABCD1):c.514C>T (p.Arg172Cys)
NM_000033.4(ABCD1):c.531G>A (p.Gln177=)
NM_000033.4(ABCD1):c.53C>A (p.Thr18Lys)
NM_000033.4(ABCD1):c.546G>A (p.Arg182=)
NM_000033.4(ABCD1):c.546G>T (p.Arg182=) rs2091708238
NM_000033.4(ABCD1):c.549C>G (p.Val183=)
NM_000033.4(ABCD1):c.562G>A (p.Gly188Arg)
NM_000033.4(ABCD1):c.564G>C (p.Gly188=) rs1603232017
NM_000033.4(ABCD1):c.572G>A (p.Arg191His)
NM_000033.4(ABCD1):c.573C>A (p.Arg191=)
NM_000033.4(ABCD1):c.579T>G (p.Pro193=)
NM_000033.4(ABCD1):c.57C>T (p.Ala19=) rs1603231679
NM_000033.4(ABCD1):c.582C>T (p.Asp194=)
NM_000033.4(ABCD1):c.588T>C (p.Ser196=)
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.59T>A (p.Val20Glu)
NM_000033.4(ABCD1):c.603G>T (p.Val201=)
NM_000033.4(ABCD1):c.609C>G (p.Ala203=)
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=)
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=)
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.6G>T (p.Pro2=)
NM_000033.4(ABCD1):c.701G>A (p.Arg234His)
NM_000033.4(ABCD1):c.702C>T (p.Arg234=) rs2148389678
NM_000033.4(ABCD1):c.706C>T (p.Arg236Cys)
NM_000033.4(ABCD1):c.708T>G (p.Arg236=)
NM_000033.4(ABCD1):c.715G>A (p.Gly239Ser)
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=)
NM_000033.4(ABCD1):c.738C>T (p.Ile246=) rs2148389730
NM_000033.4(ABCD1):c.741C>T (p.Ala247=)
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=)
NM_000033.4(ABCD1):c.750G>C (p.Val250=) rs782196006
NM_000033.4(ABCD1):c.75G>A (p.Ala25=)
NM_000033.4(ABCD1):c.762G>A (p.Thr254=)
NM_000033.4(ABCD1):c.762G>C (p.Thr254=)
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=)
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=)
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.852G>A (p.Ser284=) rs1034154728
NM_000033.4(ABCD1):c.855T>C (p.Arg285=) rs1471236066
NM_000033.4(ABCD1):c.859G>A (p.Val287Met)
NM_000033.4(ABCD1):c.879C>T (p.Ile293=) rs1176122000
NM_000033.4(ABCD1):c.888T>C (p.Tyr296=) rs2091712169
NM_000033.4(ABCD1):c.900+17T>A
NM_000033.4(ABCD1):c.900+18G>A
NM_000033.4(ABCD1):c.900+20C>T
NM_000033.4(ABCD1):c.900+8A>G rs2148390036
NM_000033.4(ABCD1):c.901-18G>A
NM_000033.4(ABCD1):c.901-4G>C rs782306934
NM_000033.4(ABCD1):c.901-6C>G
NM_000033.4(ABCD1):c.901-7C>A
NM_000033.4(ABCD1):c.901-8C>T
NM_000033.4(ABCD1):c.901-9C>T rs782602840
NM_000033.4(ABCD1):c.912C>G (p.Ala304=)
NM_000033.4(ABCD1):c.924C>T (p.Arg308=)
NM_000033.4(ABCD1):c.92A>G (p.Lys31Arg)
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=)
NM_000033.4(ABCD1):c.963T>C (p.Leu321=)
NM_000033.4(ABCD1):c.975G>T (p.Leu325=)
NM_000033.4(ABCD1):c.981T>C (p.Tyr327=) rs1179912920

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.