ClinVar Miner

List of variants in gene ABCD1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 413
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.*8G>C rs2229539 0.70012
NM_000033.3(ABCD1):c.*1035C>T rs6643782 0.69879
NM_000033.4(ABCD1):c.1992-32C>T rs4898368 0.59030
NM_000033.4(ABCD1):c.*877C>T rs11803 0.46252
NM_000033.4(ABCD1):c.*894G>A rs1055847 0.44006
NM_000033.4(ABCD1):c.1780+322A>C rs11156606 0.27371
NM_000033.4(ABCD1):c.900+137C>G rs12006790 0.26526
NM_000033.4(ABCD1):c.*608G>A rs73640819 0.19859
NM_000033.4(ABCD1):c.1635-125C>T rs4148036 0.09238
NM_000033.4(ABCD1):c.-59C>T rs4148030 0.09150
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153 0.08321
NM_000033.4(ABCD1):c.1488+134C>T rs142236904 0.06404
NM_000033.4(ABCD1):c.1781-106G>T rs189770856 0.04701
NM_000033.4(ABCD1):c.1781-59G>A rs181218840 0.02587
NM_000033.4(ABCD1):c.1393+31C>T rs73633774 0.01908
NM_000033.4(ABCD1):c.1634+153G>A rs142496200 0.01706
NM_000033.4(ABCD1):c.1634+58C>T rs7059198 0.01325
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
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.900+169G>A rs782756846 0.00770
NM_000033.4(ABCD1):c.901-10C>T rs2269365 0.00512
NM_000033.4(ABCD1):c.471A>G (p.Gln157=) rs151148684 0.00506
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.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.601G>A (p.Val201Met) rs139415350 0.00048
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=) rs372309740 0.00046
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.1047C>A (p.Val349=) rs185931852 0.00034
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.249C>T (p.Phe83=) rs782628755 0.00023
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397 0.00019
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.420C>A (p.Ile140=) rs74315279 0.00014
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976 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.1582G>A (p.Gly528Ser) rs376472029 0.00010
NM_000033.4(ABCD1):c.54G>A (p.Thr18=) rs781855598 0.00010
NM_000033.4(ABCD1):c.1781-5C>G rs781920026 0.00008
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg) rs201979180 0.00008
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.2065C>T (p.Arg689Cys) rs782376163 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.392G>T (p.Gly131Val) rs367799134 0.00005
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys) rs781983308 0.00004
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.2173G>A (p.Ala725Thr) rs782809184 0.00004
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala) rs781900720 0.00004
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys) rs781850760 0.00004
NM_000033.4(ABCD1):c.2032G>A (p.Gly678Ser) rs782608984 0.00003
NM_000033.4(ABCD1):c.732G>A (p.Ser244=) rs782643462 0.00003
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792 0.00002
NM_000033.4(ABCD1):c.1629G>A (p.Pro543=) rs782278443 0.00002
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000033.4(ABCD1):c.1790C>G (p.Ala597Gly) rs782065134 0.00002
NM_000033.4(ABCD1):c.1911C>T (p.Ile637=) rs367901575 0.00002
NM_000033.4(ABCD1):c.1992-15C>T rs782734602 0.00002
NM_000033.4(ABCD1):c.199A>G (p.Met67Val) rs1057114018 0.00002
NM_000033.4(ABCD1):c.389T>G (p.Phe130Cys) rs1557052334 0.00002
NM_000033.4(ABCD1):c.785C>T (p.Ser262Leu) rs1204814114 0.00002
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp) rs782760033 0.00002
NM_000033.4(ABCD1):c.110G>T (p.Arg37Leu) rs1257848735 0.00001
NM_000033.4(ABCD1):c.1138G>A (p.Glu380Lys) rs782007706 0.00001
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln) rs1046633404 0.00001
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649 0.00001
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg) rs1569541033 0.00001
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102 0.00001
NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile) rs1159943880 0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000033.4(ABCD1):c.164A>C (p.Gln55Pro) rs1557052224 0.00001
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859 0.00001
NM_000033.4(ABCD1):c.1792A>G (p.Met598Val) rs781856973 0.00001
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225 0.00001
NM_000033.4(ABCD1):c.1866G>T (p.Arg622Ser) rs201197921 0.00001
NM_000033.4(ABCD1):c.1915G>A (p.Val639Met) rs782706738 0.00001
NM_000033.4(ABCD1):c.1937C>T (p.Ala646Val) rs1258368672 0.00001
NM_000033.4(ABCD1):c.2111C>T (p.Ala704Val) rs782740513 0.00001
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp) rs782583464 0.00001
NM_000033.4(ABCD1):c.2143G>A (p.Glu715Lys) rs1557055455 0.00001
NM_000033.4(ABCD1):c.2209C>T (p.Pro737Ser) rs1290462360 0.00001
NM_000033.4(ABCD1):c.225C>T (p.Leu75=) rs781883009 0.00001
NM_000033.4(ABCD1):c.297C>T (p.Ala99=) rs889405096 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000033.4(ABCD1):c.64C>T (p.Leu22=) rs1184150367 0.00001
NM_000033.4(ABCD1):c.675T>C (p.Thr225=) rs1557052463 0.00001
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174 0.00001
NM_000033.4(ABCD1):c.776G>A (p.Arg259Gln) rs200191405 0.00001
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val) rs781970988 0.00001
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931 0.00001
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys) rs782334088 0.00001
NM_000033.4(ABCD1):c.1007A>G (p.Lys336Arg)
NM_000033.4(ABCD1):c.1020C>A (p.Ser340Arg)
NM_000033.4(ABCD1):c.1025C>T (p.Ser342Leu)
NM_000033.4(ABCD1):c.1028G>T (p.Gly343Val)
NM_000033.4(ABCD1):c.1031T>C (p.Leu344Pro) rs2148392029
NM_000033.4(ABCD1):c.1045del (p.Val349fs) rs2091726859
NM_000033.4(ABCD1):c.104del (p.Leu35fs) rs2091703332
NM_000033.4(ABCD1):c.1072T>C (p.Ser358Pro)
NM_000033.4(ABCD1):c.1076_1077del (p.Glu359fs) rs1569540883
NM_000033.4(ABCD1):c.1081+53G>A
NM_000033.4(ABCD1):c.1081G>T (p.Asp361Tyr)
NM_000033.4(ABCD1):c.1082-1G>A rs1557054153
NM_000033.4(ABCD1):c.1082-23C>G rs2148395325
NM_000033.4(ABCD1):c.110G>C (p.Arg37Pro)
NM_000033.4(ABCD1):c.1114AAG[1] (p.Lys373del) rs782627940
NM_000033.4(ABCD1):c.1132G>A (p.Val378Met)
NM_000033.4(ABCD1):c.1136G>A (p.Ser379Asn)
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1184C>T (p.Ala395Val) rs2148395465
NM_000033.4(ABCD1):c.1190A>G (p.Asp397Gly)
NM_000033.4(ABCD1):c.1192G>A (p.Ala398Thr) rs2148395474
NM_000033.4(ABCD1):c.1193C>T (p.Ala398Val) rs2148395475
NM_000033.4(ABCD1):c.1201C>G (p.Arg401Gly) rs727503786
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1203del (p.Ile402fs) rs1569541007
NM_000033.4(ABCD1):c.1214C>T (p.Ser405Leu)
NM_000033.4(ABCD1):c.121del (p.Ala41fs) rs2148388671
NM_000033.4(ABCD1):c.1224+1G>T
NM_000033.4(ABCD1):c.1224G>C (p.Glu408Asp) rs2148395507
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro) rs1569541011
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1255G>C (p.Val419Leu)
NM_000033.4(ABCD1):c.1256T>G (p.Val419Gly)
NM_000033.4(ABCD1):c.1273G>T (p.Val425Leu)
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000033.4(ABCD1):c.1359del (p.Gly454fs) rs1603234574
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1393G>A (p.Gly465Ser)
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter) rs398123100
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1428C>A (p.Cys476Ter)
NM_000033.4(ABCD1):c.1428C>G (p.Cys476Trp)
NM_000033.4(ABCD1):c.1438C>A (p.Pro480Thr) rs2148396062
NM_000033.4(ABCD1):c.1440del (p.Ile481fs) rs1557054318
NM_000033.4(ABCD1):c.1441A>G (p.Ile481Val)
NM_000033.4(ABCD1):c.1447dup (p.Thr483fs)
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035
NM_000033.4(ABCD1):c.146C>A (p.Pro49His) rs1557052213
NM_000033.4(ABCD1):c.1477C>G (p.Leu493Val)
NM_000033.4(ABCD1):c.1478T>A (p.Leu493His)
NM_000033.4(ABCD1):c.1489-24C>G rs149185761
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1504dup (p.His502fs)
NM_000033.4(ABCD1):c.1510C>T (p.Leu504Phe)
NM_000033.4(ABCD1):c.1516A>C (p.Thr506Pro) rs797044766
NM_000033.4(ABCD1):c.1517C>G (p.Thr506Arg)
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)
NM_000033.4(ABCD1):c.1527T>A (p.Asn509Lys) rs2091762371
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr) rs1557054745
NM_000033.4(ABCD1):c.1533C>A (p.Cys511Ter)
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp) rs782370364
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1577C>G (p.Thr526Arg) rs2091762670
NM_000033.4(ABCD1):c.1583GTG[1] (p.Gly529del)
NM_000033.4(ABCD1):c.1585G>A (p.Gly529Ser) rs2148397619
NM_000033.4(ABCD1):c.1586G>A (p.Gly529Asp) rs398123103
NM_000033.4(ABCD1):c.1600C>A (p.Pro534Thr)
NM_000033.4(ABCD1):c.1615A>G (p.Met539Val) rs782440686
NM_000033.4(ABCD1):c.1621_1628del (p.Tyr541fs) rs1569541093
NM_000033.4(ABCD1):c.1624A>C (p.Ile542Leu) rs2091763035
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1628del (p.Pro543fs) rs1603235321
NM_000033.4(ABCD1):c.1634+1G>C
NM_000033.4(ABCD1):c.1635-2A>G rs1569541109
NM_000033.4(ABCD1):c.1635-64C>T rs193098717
NM_000033.4(ABCD1):c.1636C>T (p.Pro546Ser) rs2148397874
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu) rs1603235394
NM_000033.4(ABCD1):c.164dup (p.Glu56fs) rs2148388748
NM_000033.4(ABCD1):c.1657C>G (p.Leu553Val) rs2148397902
NM_000033.4(ABCD1):c.1660C>A (p.Arg554Ser) rs398123104
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) rs201568579
NM_000033.4(ABCD1):c.1667A>T (p.Gln556Leu) rs2091764439
NM_000033.4(ABCD1):c.1670T>G (p.Val557Gly) rs2091764492
NM_000033.4(ABCD1):c.1670_1671del (p.Val557fs) rs1603235406
NM_000033.4(ABCD1):c.1672A>T (p.Ile558Phe)
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1681G>T (p.Asp561Tyr)
NM_000033.4(ABCD1):c.1683C>T (p.Asp561=) rs199997983
NM_000033.4(ABCD1):c.1684T>C (p.Ser562Pro) rs2091764595
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter) rs201114595
NM_000033.4(ABCD1):c.171C>T (p.Ala57=) rs782317790
NM_000033.4(ABCD1):c.1747G>C (p.Val583Leu)
NM_000033.4(ABCD1):c.1748T>C (p.Val583Ala)
NM_000033.4(ABCD1):c.1751A>G (p.His584Arg)
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn) rs1569541122
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1780+25A>G rs782547918
NM_000033.4(ABCD1):c.1781-1G>A rs797044781
NM_000033.4(ABCD1):c.1781-1G>T
NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter) rs398123107
NM_000033.4(ABCD1):c.1802G>C (p.Trp601Ser)
NM_000033.4(ABCD1):c.1807del (p.Asp603fs)
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro) rs2148399015
NM_000033.4(ABCD1):c.181G>C (p.Ala61Pro) rs782134465
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser) rs2091772331
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.1832A>G (p.Gln611Arg) rs1569541194
NM_000033.4(ABCD1):c.1835del (p.Arg612fs)
NM_000033.4(ABCD1):c.1849C>G (p.Arg617Gly) rs4010613
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1850G>C (p.Arg617Pro)
NM_000033.4(ABCD1):c.1854G>A (p.Met618Ile)
NM_000033.4(ABCD1):c.1856_1865+17del
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro) rs2148399201
NM_000033.4(ABCD1):c.1883T>C (p.Leu628Pro) rs2148399204
NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile) rs1064793877
NM_000033.4(ABCD1):c.1899C>G (p.Ser633Arg) rs202125585
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1901C>T (p.Ala634Val)
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
NM_000033.4(ABCD1):c.1904T>C (p.Val635Ala) rs797044791
NM_000033.4(ABCD1):c.1912G>A (p.Asp638Asn) rs886044887
NM_000033.4(ABCD1):c.1912G>C (p.Asp638His) rs886044887
NM_000033.4(ABCD1):c.1927A>T (p.Ile643Phe)
NM_000033.4(ABCD1):c.1928T>C (p.Ile643Thr)
NM_000033.4(ABCD1):c.1932C>A (p.Phe644Leu)
NM_000033.4(ABCD1):c.1933del (p.Gln645fs) rs1603236013
NM_000033.4(ABCD1):c.1945G>A (p.Asp649Asn)
NM_000033.4(ABCD1):c.1948G>A (p.Ala650Thr) rs1557055332
NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val) rs1557055333
NM_000033.4(ABCD1):c.1955T>A (p.Ile652Asn) rs797044790
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro) rs2148399307
NM_000033.4(ABCD1):c.1966_1967dup (p.Ile657fs) rs2148399303
NM_000033.4(ABCD1):c.1970_1972del (p.Ile657del) rs2148399308
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro) rs886044882
NM_000033.4(ABCD1):c.1991+5G>A rs781878761
NM_000033.4(ABCD1):c.1992-2A>G rs797044626
NM_000033.4(ABCD1):c.1992-7T>A rs886044874
NM_000033.4(ABCD1):c.2000A>G (p.His667Arg)
NM_000033.4(ABCD1):c.2006_2007del (p.His669fs) rs797044625
NM_000033.4(ABCD1):c.2006_2007dup (p.Leu670fs) rs797044625
NM_000033.4(ABCD1):c.2011C>A (p.Leu671Ile)
NM_000033.4(ABCD1):c.201del (p.Met67fs)
NM_000033.4(ABCD1):c.2029G>A (p.Gly677Ser)
NM_000033.4(ABCD1):c.2037G>A (p.Trp679Ter) rs1557055406
NM_000033.4(ABCD1):c.2037G>C (p.Trp679Cys) rs1557055406
NM_000033.4(ABCD1):c.2043C>G (p.Phe681Leu) rs782327280
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.4(ABCD1):c.2056T>G (p.Ser686Ala)
NM_000033.4(ABCD1):c.2073C>A (p.Ser691Arg)
NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met) rs782311214
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu) rs782701925
NM_000033.4(ABCD1):c.2120C>T (p.Pro707Leu)
NM_000033.4(ABCD1):c.2128C>T (p.Gln710Ter) rs1479171194
NM_000033.4(ABCD1):c.2132G>A (p.Arg711Gln)
NM_000033.4(ABCD1):c.2149_2231del (p.Cys717fs)
NM_000033.4(ABCD1):c.2152C>T (p.Gln718Ter)
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu) rs368462762
NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)
NM_000033.4(ABCD1):c.2237G>C (p.Ter746Ser) rs781851566
NM_000033.4(ABCD1):c.225_245del (p.Leu76_Leu82del) rs1064794778
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del) rs1569540680
NM_000033.4(ABCD1):c.22C>T (p.Arg8Trp)
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del) rs1603231784
NM_000033.4(ABCD1):c.236T>C (p.Leu79Pro)
NM_000033.4(ABCD1):c.247_264dup (p.Cys88_Arg89insPheProArgValLeuCys)
NM_000033.4(ABCD1):c.251C>T (p.Pro84Leu)
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
NM_000033.4(ABCD1):c.253dup (p.Arg85fs) rs713993050
NM_000033.4(ABCD1):c.263G>A (p.Cys88Tyr) rs2091705016
NM_000033.4(ABCD1):c.268G>T (p.Glu90Ter) rs2148388883
NM_000033.4(ABCD1):c.272C>G (p.Thr91Arg)
NM_000033.4(ABCD1):c.275G>A (p.Gly92Glu)
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu) rs1557052294
NM_000033.4(ABCD1):c.29G>A (p.Trp10Ter) rs2148388538
NM_000033.4(ABCD1):c.30G>A (p.Trp10Ter) rs1304001811
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys) rs2148388971
NM_000033.4(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.4(ABCD1):c.314C>G (p.Thr105Ser)
NM_000033.4(ABCD1):c.314C>T (p.Thr105Ile) rs2148388980
NM_000033.4(ABCD1):c.31_46del (p.Arg11fs) rs398123109
NM_000033.4(ABCD1):c.323C>T (p.Ser108Leu) rs2091705631
NM_000033.4(ABCD1):c.333G>A (p.Val111=)
NM_000033.4(ABCD1):c.335C>T (p.Ala112Val)
NM_000033.4(ABCD1):c.338G>A (p.Arg113His) rs1322406234
NM_000033.4(ABCD1):c.338G>C (p.Arg113Pro)
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro) rs1603231848
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg) rs398123110
NM_000033.4(ABCD1):c.355G>C (p.Ala119Pro) rs781846746
NM_000033.4(ABCD1):c.367G>A (p.Val123Ile) rs1009106172
NM_000033.4(ABCD1):c.397C>T (p.Gln133Ter)
NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter) rs398123111
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter) rs2091706547
NM_000033.4(ABCD1):c.414C>A (p.Leu138=)
NM_000033.4(ABCD1):c.420C>T (p.Ile140=) rs74315279
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.422C>T (p.Ala141Val) rs1603231911
NM_000033.4(ABCD1):c.425_426del (p.Leu142fs) rs2148389181
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser) rs128624216
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr) rs1569540692
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) rs1569540693
NM_000033.4(ABCD1):c.455G>C (p.Arg152Pro) rs1557052367
NM_000033.4(ABCD1):c.469C>G (p.Gln157Glu) rs2148389233
NM_000033.4(ABCD1):c.482C>A (p.Ser161Ter) rs373957035
NM_000033.4(ABCD1):c.485T>C (p.Phe162Ser) rs2148389278
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) rs1569540695
NM_000033.4(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.4(ABCD1):c.497T>C (p.Leu166Pro) rs2148389301
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000033.4(ABCD1):c.518T>C (p.Leu173Pro) rs2148389338
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys) rs1557052390
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr) rs1569540700
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter) rs1057516052
NM_000033.4(ABCD1):c.533A>G (p.Gln178Arg)
NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys) rs2091708150
NM_000033.4(ABCD1):c.53C>T (p.Thr18Met) rs1557052159
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly) rs1603232005
NM_000033.4(ABCD1):c.545G>A (p.Arg182Gln) rs1383386358
NM_000033.4(ABCD1):c.547G>T (p.Val183Phe) rs2148389399
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)
NM_000033.4(ABCD1):c.571C>T (p.Arg191Cys)
NM_000033.4(ABCD1):c.577C>G (p.Pro193Ala)
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu) rs1569540703
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu) rs398123113
NM_000033.4(ABCD1):c.615_617dup (p.Ala206_Ser207insAla)
NM_000033.4(ABCD1):c.616G>C (p.Ala206Pro)
NM_000033.4(ABCD1):c.630C>G (p.His210Gln)
NM_000033.4(ABCD1):c.641A>G (p.Asn214Ser)
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.662A>C (p.Asp221Ala) rs1569540711
NM_000033.4(ABCD1):c.664G>A (p.Val222Met)
NM_000033.4(ABCD1):c.669T>C (p.Ala223=) rs2148389594
NM_000033.4(ABCD1):c.674C>T (p.Thr225Ile)
NM_000033.4(ABCD1):c.678del (p.Tyr227fs)
NM_000033.4(ABCD1):c.688C>T (p.Leu230Phe) rs2148389639
NM_000033.4(ABCD1):c.692_694delinsC (p.Arg231fs)
NM_000033.4(ABCD1):c.696G>A (p.Ala232=) rs147595334
NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys) rs1557052478
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu) rs782723557
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs)
NM_000033.4(ABCD1):c.724_731del (p.Trp242fs)
NM_000033.4(ABCD1):c.742G>A (p.Gly248Ser)
NM_000033.4(ABCD1):c.748G>C (p.Val250Leu)
NM_000033.4(ABCD1):c.750G>C (p.Val250=) rs782196006
NM_000033.4(ABCD1):c.757C>T (p.Leu253Phe) rs150151955
NM_000033.4(ABCD1):c.761C>A (p.Thr254Lys)
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.763G>A (p.Ala255Thr)
NM_000033.4(ABCD1):c.763dup (p.Ala255fs)
NM_000033.4(ABCD1):c.775C>T (p.Arg259Trp)
NM_000033.4(ABCD1):c.776G>C (p.Arg259Pro)
NM_000033.4(ABCD1):c.785C>G (p.Ser262Trp) rs1204814114
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.796G>T (p.Gly266Trp) rs128624218
NM_000033.4(ABCD1):c.799G>A (p.Glu267Lys)
NM_000033.4(ABCD1):c.799del (p.Glu267fs) rs2148389850
NM_000033.4(ABCD1):c.828G>T (p.Lys276Asn)
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg) rs1603232195
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp) rs1603232195
NM_000033.4(ABCD1):c.830G>A (p.Gly277Glu)
NM_000033.4(ABCD1):c.832dup (p.Glu278fs) rs2148389899
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter) rs1557052555
NM_000033.4(ABCD1):c.847C>T (p.His283Tyr) rs782509393
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu) rs2091711722
NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser) rs782334088
NM_000033.4(ABCD1):c.857T>G (p.Val286Gly)
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
NM_000033.4(ABCD1):c.86C>A (p.Ala29Asp)
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del) rs387906496
NM_000033.4(ABCD1):c.873G>C (p.Glu291Asp) rs2148389975
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys) rs2091712008
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.880G>C (p.Ala294Pro)
NM_000033.4(ABCD1):c.884T>G (p.Phe295Cys)
NM_000033.4(ABCD1):c.886T>C (p.Tyr296His) rs797044611
NM_000033.4(ABCD1):c.887A>C (p.Tyr296Ser) rs797044610
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.88C>G (p.His30Asp)
NM_000033.4(ABCD1):c.893G>A (p.Gly298Asp)
NM_000033.4(ABCD1):c.893G>T (p.Gly298Val)
NM_000033.4(ABCD1):c.900+7C>T rs2091712393
NM_000033.4(ABCD1):c.900G>C (p.Glu300Asp) rs1569540743
NM_000033.4(ABCD1):c.901-1G>A rs2148391908
NM_000033.4(ABCD1):c.910G>C (p.Ala304Pro) rs1557053214
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter) rs1603233089
NM_000033.4(ABCD1):c.925T>C (p.Ser309Pro)
NM_000033.4(ABCD1):c.929A>T (p.Tyr310Phe)
NM_000033.4(ABCD1):c.938T>A (p.Leu313Gln) rs2091726449
NM_000033.4(ABCD1):c.970C>T (p.Arg324Cys)
NM_000033.4(ABCD1):c.971G>A (p.Arg324His)
NM_000033.4(ABCD1):c.977_985del (p.Trp326_Met329delinsLeu)
NM_000033.4(ABCD1):c.988C>T (p.Leu330=)
NM_000033.4(ABCD1):c.991G>A (p.Glu331Lys)
NM_000033.4(ABCD1):c.9_13del (p.Leu4fs) rs2148388506

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.