ClinVar Miner

List of variants in gene ABCD1 studied for Adrenoleukodystrophy

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Gene type:
ClinVar version:
Total variants: 375
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HGVS dbSNP
ABCD1, 2-BP DEL, 2177TA
ABCD1, IVS1DS, G-A, -1
NC_000023.10:g.(?_152990712)_(153009199_?)dup
NC_000023.10:g.(?_153008421)_(153009209_?)del
NC_000023.11:g.(?_153736092)_(153743755_?)del
NC_000023.11:g.(?_153736102)_(153743735_?)del
NC_000023.11:g.(?_153736102)_(153743745_?)del
NC_000023.11:g.(?_153740082)_(153740247_?)del
NC_000023.11:g.(?_153742977)_(153743745_?)del
NC_000023.11:g.(?_153743201)_(153743755_?)del
NM_000033.3(ABCD1):c.*1035C>T rs6643782
NM_000033.3(ABCD1):c.874_876delGAG (p.Glu292del) rs387906496
NM_000033.4(ABCD1):c.*10C>T rs1057515814
NM_000033.4(ABCD1):c.*123C>T rs186542134
NM_000033.4(ABCD1):c.*12C>T
NM_000033.4(ABCD1):c.*196C>G rs367591611
NM_000033.4(ABCD1):c.*208G>C rs193922092
NM_000033.4(ABCD1):c.*259A>G rs374092960
NM_000033.4(ABCD1):c.*287G>A
NM_000033.4(ABCD1):c.*334C>G
NM_000033.4(ABCD1):c.*360C>T
NM_000033.4(ABCD1):c.*409C>G
NM_000033.4(ABCD1):c.*412T>C rs1057515815
NM_000033.4(ABCD1):c.*450T>A
NM_000033.4(ABCD1):c.*473C>T rs782343473
NM_000033.4(ABCD1):c.*476A>G
NM_000033.4(ABCD1):c.*481G>T rs199942817
NM_000033.4(ABCD1):c.*530G>A rs67211405
NM_000033.4(ABCD1):c.*548_*554GAGAGGG[1] rs1057515816
NM_000033.4(ABCD1):c.*564G>A rs782819878
NM_000033.4(ABCD1):c.*608G>A rs73640819
NM_000033.4(ABCD1):c.*621C>T
NM_000033.4(ABCD1):c.*668C>T rs187420166
NM_000033.4(ABCD1):c.*767C>T
NM_000033.4(ABCD1):c.*795C>T rs1057515817
NM_000033.4(ABCD1):c.*802G>T
NM_000033.4(ABCD1):c.*805G>C
NM_000033.4(ABCD1):c.*825C>T
NM_000033.4(ABCD1):c.*830A>G
NM_000033.4(ABCD1):c.*831G>T
NM_000033.4(ABCD1):c.*870G>T rs72616452
NM_000033.4(ABCD1):c.*877C>T rs11803
NM_000033.4(ABCD1):c.*894G>A rs1055847
NM_000033.4(ABCD1):c.*8G>C rs2229539
NM_000033.4(ABCD1):c.*901G>A
NM_000033.4(ABCD1):c.*903G>A rs78155328
NM_000033.4(ABCD1):c.*911G>A
NM_000033.4(ABCD1):c.*948C>T
NM_000033.4(ABCD1):c.*969A>G
NM_000033.4(ABCD1):c.*980T>C
NM_000033.4(ABCD1):c.*985C>G rs782309410
NM_000033.4(ABCD1):c.-10C>T rs782754717
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs) rs387906497
NM_000033.4(ABCD1):c.-202C>G rs781978041
NM_000033.4(ABCD1):c.-342G>A rs912340339
NM_000033.4(ABCD1):c.-59C>T rs4148030
NM_000033.4(ABCD1):c.1015T>C (p.Trp339Arg) rs1603233120
NM_000033.4(ABCD1):c.1021G>T (p.Ala341Ser)
NM_000033.4(ABCD1):c.1027G>C (p.Gly343Arg)
NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp)
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) rs185931852
NM_000033.4(ABCD1):c.1081+1G>A
NM_000033.4(ABCD1):c.108G>A (p.Val36=) rs368718078
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
NM_000033.4(ABCD1):c.1092C>T (p.Ala364=) rs782250326
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter) rs1569541000
NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs) rs1603234451
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter) rs782266592
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys) rs781983308
NM_000033.4(ABCD1):c.1142G>A (p.Arg381His) rs782755297
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro) rs1603234466
NM_000033.4(ABCD1):c.1156A>C (p.Thr386Pro)
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser) rs1603234474
NM_000033.4(ABCD1):c.1162G>C (p.Ala388Pro)
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs)
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val) rs1324874967
NM_000033.4(ABCD1):c.1183G>C (p.Ala395Pro) rs1557054176
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr) rs1569541006
NM_000033.4(ABCD1):c.1198G>A (p.Glu400Lys)
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.1215G>A (p.Ser405=) rs138233092
NM_000033.4(ABCD1):c.1219A>T (p.Lys407Ter) rs1603234501
NM_000033.4(ABCD1):c.1225-7_1239del rs1569541009
NM_000033.4(ABCD1):c.1228A>T (p.Thr410Ser) rs782161850
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=) rs782742220
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649
NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter) rs1557054210
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter) rs398123100
NM_000033.4(ABCD1):c.1404G>A (p.Val468=) rs782072629
NM_000033.4(ABCD1):c.1414C>T (p.Gln472Ter)
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.4(ABCD1):c.1429G>T (p.Glu477Ter) rs128624222
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035
NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg) rs128624214
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=) rs782546330
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter) rs1603234759
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397
NM_000033.4(ABCD1):c.1467G>A (p.Val489=) rs782516659
NM_000033.4(ABCD1):c.146_159del (p.Pro49fs) rs1569540676
NM_000033.4(ABCD1):c.1488+1G>A
NM_000033.4(ABCD1):c.1489-1G>A rs1603235263
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu) rs1603235267
NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro)
NM_000033.4(ABCD1):c.1523C>A (p.Pro508His) rs1569541087
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792
NM_000033.4(ABCD1):c.1529del (p.Gly510fs)
NM_000033.4(ABCD1):c.1531_1536del (p.Cys511_Gly512del)
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr) rs1557054745
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.1534G>C (p.Gly512Arg)
NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe) rs128624223
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153
NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly) rs128624224
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1552del (p.Arg518fs) rs387906495
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe) rs1159943880
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
NM_000033.4(ABCD1):c.1577C>G (p.Thr526Arg)
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=) rs145073701
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro) rs193922094
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn) rs1569541092
NM_000033.4(ABCD1):c.1615A>G (p.Met539Val)
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg)
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1628del (p.Pro543fs) rs1603235321
NM_000033.4(ABCD1):c.1629G>A (p.Pro543=) rs782278443
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg)
NM_000033.4(ABCD1):c.1634+1G>A rs1569541096
NM_000033.4(ABCD1):c.1635-1G>A rs1603235389
NM_000033.4(ABCD1):c.1635-2A>G rs1569541109
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu) rs1603235394
NM_000033.4(ABCD1):c.1642A>G (p.Met548Val)
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile) rs1569541112
NM_000033.4(ABCD1):c.1660dup (p.Arg554fs) rs1569541115
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) rs201568579
NM_000033.4(ABCD1):c.1668G>T (p.Gln556His)
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)
NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr)
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1683C>T (p.Asp561=) rs199997983
NM_000033.4(ABCD1):c.1684T>A (p.Ser562Thr)
NM_000033.4(ABCD1):c.1684T>C (p.Ser562Pro)
NM_000033.4(ABCD1):c.1695del (p.Asp565fs)
NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs) rs1557052133
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del) rs1603235421
NM_000033.4(ABCD1):c.1741_1755del (p.Asp581_Leu585del)
NM_000033.4(ABCD1):c.1742_1781-968del
NM_000033.4(ABCD1):c.1743C>T (p.Asp581=) rs782026057
NM_000033.4(ABCD1):c.1743_1745CGT[1] (p.Val583del) rs1557054859
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
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+2T>G rs1557054875
NM_000033.4(ABCD1):c.1780+4G>A rs193922095
NM_000033.4(ABCD1):c.1781-7C>T rs79915675
NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter) rs1603235901
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr) rs782134465
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser)
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.1826A>G (p.Glu609Gly) rs1557055260
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser) rs146525445
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.1853del (p.Met618fs) rs1603235941
NM_000033.4(ABCD1):c.1865+1G>A rs1569541198
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1866-1G>A rs1557055311
NM_000033.4(ABCD1):c.1866-1G>C rs1557055311
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1892G>A (p.Cys631Tyr)
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=) rs1557055319
NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile) rs1064793877
NM_000033.4(ABCD1):c.1899C>G (p.Ser633Arg)
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=) rs202125585
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958
NM_000033.4(ABCD1):c.1912G>C (p.Asp638His) rs886044887
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly) rs1603236012
NM_000033.4(ABCD1):c.1948G>C (p.Ala650Pro)
NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val) rs1557055333
NM_000033.4(ABCD1):c.1950G>A (p.Ala650=)
NM_000033.4(ABCD1):c.1952G>T (p.Gly651Val)
NM_000033.4(ABCD1):c.1960C>T (p.Leu654=) rs782809410
NM_000033.4(ABCD1):c.1961T>C (p.Leu654Pro)
NM_000033.4(ABCD1):c.1961_1975dup (p.Leu654_Thr658dup)
NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe) rs1603236020
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile) rs1557055337
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.1979G>T (p.Arg660Leu) rs1557055340
NM_000033.4(ABCD1):c.1991+68_1992-4del rs1603236039
NM_000033.4(ABCD1):c.1991G>A (p.Trp664Ter)
NM_000033.4(ABCD1):c.1997A>G (p.Tyr666Cys)
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter) rs1170974058
NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter) rs1170974058
NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs) rs1557055392
NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr)
NM_000033.4(ABCD1):c.199A>G (p.Met67Val) rs1057114018
NM_000033.4(ABCD1):c.1A>G (p.Met1Val)
NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro) rs1603236086
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile) rs1557055398
NM_000033.4(ABCD1):c.2006A>G (p.His669Arg)
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs) rs1569541207
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg) rs1557055405
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.2044G>C (p.Glu682Gln) rs781793261
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys) rs782376163
NM_000033.4(ABCD1):c.2076G>A (p.Leu692=) rs1557055415
NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met)
NM_000033.4(ABCD1):c.2079G>A (p.Thr693=) rs781935761
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile) rs782701925
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=) rs372309740
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp) rs782583464
NM_000033.4(ABCD1):c.2134C>T (p.Arg712Cys) rs1557055441
NM_000033.4(ABCD1):c.2188C>T (p.Pro730Ser) rs1603236153
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu) rs368462762
NM_000033.4(ABCD1):c.2221C>T (p.Gln741Ter)
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del) rs1569540680
NM_000033.4(ABCD1):c.22C>A (p.Arg8=)
NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup) rs1603231784
NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp) rs868977355
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755
NM_000033.4(ABCD1):c.253dup (p.Arg85fs) rs713993050
NM_000033.4(ABCD1):c.254G>C (p.Arg85Pro)
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.263G>A (p.Cys88Tyr)
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg) rs201979180
NM_000033.4(ABCD1):c.290A>C (p.His97Pro)
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu) rs1557052294
NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro) rs1557052298
NM_000033.4(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro) rs1569540688
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro) rs1603231848
NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg) rs398123110
NM_000033.4(ABCD1):c.36del (p.Asn13fs) rs1603231653
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp) rs782359412
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134
NM_000033.4(ABCD1):c.408del (p.Gln136fs) rs1603231897
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala) rs781900720
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter)
NM_000033.4(ABCD1):c.412_414CTC[1] (p.Leu139del) rs1557052351
NM_000033.4(ABCD1):c.414C>T (p.Leu138=) rs782197275
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000033.4(ABCD1):c.420C>A (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.433A>G (p.Thr145Ala) rs1292006620
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile) rs782720024
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp)
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr) rs1557052362
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.471A>G (p.Gln157=) rs151148684
NM_000033.4(ABCD1):c.483del (p.Phe162fs)
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.493C>T (p.Arg165Cys)
NM_000033.4(ABCD1):c.504C>G (p.Ala168=) rs782453684
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513
NM_000033.4(ABCD1):c.50G>A (p.Arg17His) rs782693577
NM_000033.4(ABCD1):c.515G>A (p.Arg172His) rs541171928
NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp) rs128624217
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser) rs1557052390
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys) rs1557052390
NM_000033.4(ABCD1):c.530A>T (p.Gln177Leu)
NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs) rs1557052397
NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys)
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly) rs1603232005
NM_000033.4(ABCD1):c.54G>A (p.Thr18=) rs781855598
NM_000033.4(ABCD1):c.564G>C (p.Gly188=) rs1603232017
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg)
NM_000033.4(ABCD1):c.580G>A (p.Asp194Asn)
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.595G>A (p.Glu199Lys) rs1569540705
NM_000033.4(ABCD1):c.601G>A (p.Val201Met) rs139415350
NM_000033.4(ABCD1):c.615G>A (p.Ala205=) rs782601474
NM_000033.4(ABCD1):c.617_618delinsT (p.Ala206fs)
NM_000033.4(ABCD1):c.638C>A (p.Ser213Tyr) rs782567718
NM_000033.4(ABCD1):c.647C>T (p.Thr216Ile) rs1603232050
NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn) rs864309520
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.659T>C (p.Leu220Pro)
NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn)
NM_000033.4(ABCD1):c.673A>G (p.Thr225Ala) rs1557052459
NM_000033.4(ABCD1):c.691C>T (p.Arg231Trp) rs781932570
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu) rs782723557
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.70del (p.Leu24fs) rs1557052171
NM_000033.4(ABCD1):c.723del (p.Trp242fs) rs1603232111
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu) rs200849757
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.766_769dup (p.Val257fs) rs1557052530
NM_000033.4(ABCD1):c.768C>T (p.Asn256=)
NM_000033.4(ABCD1):c.773T>C (p.Leu258Pro) rs1569540731
NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser)
NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser) rs1603232171
NM_000033.4(ABCD1):c.795C>T (p.Phe265=) rs782336092
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.797G>A (p.Gly266Glu)
NM_000033.4(ABCD1):c.805G>A (p.Val269Met)
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser) rs1569540665
NM_000033.4(ABCD1):c.815A>G (p.Glu272Gly)
NM_000033.4(ABCD1):c.819G>A (p.Ala273=) rs782165410
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp) rs782760033
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.4(ABCD1):c.823_831del (p.Arg275_Gly277del)
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg) rs1603232195
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)
NM_000033.4(ABCD1):c.847C>G (p.His283Asp)
NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser)
NM_000033.4(ABCD1):c.870G>A (p.Ser290=) rs782563177
NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys) rs128624213
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys)
NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp) rs1557052573
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr) rs1603232237
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.881C>T (p.Ala294Val)
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr) rs202195978
NM_000033.4(ABCD1):c.896A>G (p.His299Arg)
NM_000033.4(ABCD1):c.900+7C>T
NM_000033.4(ABCD1):c.901-10C>T rs2269365
NM_000033.4(ABCD1):c.901-5C>T rs782603062
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter) rs1603233089
NM_000033.4(ABCD1):c.922C>T (p.Arg308Cys)
NM_000033.4(ABCD1):c.938T>A (p.Leu313Gln)
NM_000033.4(ABCD1):c.943T>C (p.Ser315Pro)
NM_000033.4(ABCD1):c.944C>T (p.Ser315Leu)
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199
NM_000033.4(ABCD1):c.988_1005del (p.Leu330_Met335del) rs1603233113
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly)
NM_000033.4(ABCD1):c.994C>T (p.Gln332Ter)

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