ClinVar Miner

List of variants in gene ABCD1 studied for Adrenoleukodystrophy

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Gene type:
ClinVar version:
Total variants: 173
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HGVS dbSNP
ABCD1, 2-BP DEL, 2177TA
ABCD1, IVS1DS, G-A, -1
NC_000023.10:g.(?_153008421)_(153009209_?)del
NM_000033.3(ABCD1):c.*1035C>T rs6643782
NM_000033.3(ABCD1):c.*10C>T rs1057515814
NM_000033.3(ABCD1):c.*123C>T rs186542134
NM_000033.3(ABCD1):c.*196C>G rs367591611
NM_000033.3(ABCD1):c.*208G>C rs193922092
NM_000033.3(ABCD1):c.*259A>G rs374092960
NM_000033.3(ABCD1):c.*412T>C rs1057515815
NM_000033.3(ABCD1):c.*473C>T rs782343473
NM_000033.3(ABCD1):c.*481G>T rs199942817
NM_000033.3(ABCD1):c.*530G>A rs67211405
NM_000033.3(ABCD1):c.*555_*561delGAGAGGG rs1057515816
NM_000033.3(ABCD1):c.*564G>A rs782819878
NM_000033.3(ABCD1):c.*608G>A rs73640819
NM_000033.3(ABCD1):c.*668C>T rs187420166
NM_000033.3(ABCD1):c.*795C>T rs1057515817
NM_000033.3(ABCD1):c.*870G>T rs72616452
NM_000033.3(ABCD1):c.*877C>T rs11803
NM_000033.3(ABCD1):c.*894G>A rs1055847
NM_000033.3(ABCD1):c.*8G>C rs2229539
NM_000033.3(ABCD1):c.*903G>A rs78155328
NM_000033.3(ABCD1):c.*985C>G rs782309410
NM_000033.3(ABCD1):c.-10C>T rs782754717
NM_000033.3(ABCD1):c.-18_8del (p.Met1_Gly66del) rs387906497
NM_000033.3(ABCD1):c.-202C>G rs781978041
NM_000033.3(ABCD1):c.-342G>A rs912340339
NM_000033.3(ABCD1):c.-59C>T rs4148030
NM_000033.3(ABCD1):c.1047C>A (p.Val349=) rs185931852
NM_000033.3(ABCD1):c.1096A>T (p.Lys366Ter)
NM_000033.3(ABCD1):c.1126G>T (p.Glu376Ter)
NM_000033.3(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.3(ABCD1):c.1181C>T (p.Ala394Val)
NM_000033.3(ABCD1):c.1183G>C (p.Ala395Pro) rs1557054176
NM_000033.3(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000033.3(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.3(ABCD1):c.1215G>A (p.Ser405=) rs138233092
NM_000033.3(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.3(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649
NM_000033.3(ABCD1):c.1270C>T (p.Gln424Ter) rs1557054210
NM_000033.3(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000033.3(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988
NM_000033.3(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976
NM_000033.3(ABCD1):c.1366dupC (p.Arg456Profs) rs193922093
NM_000033.3(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.3(ABCD1):c.1404G>A (p.Val468=) rs782072629
NM_000033.3(ABCD1):c.1415_1416delAG (p.Gln472Argfs) rs387906494
NM_000033.3(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.3(ABCD1):c.1429G>T (p.Glu477Ter) rs128624222
NM_000033.3(ABCD1):c.1451C>G (p.Pro484Arg) rs128624214
NM_000033.3(ABCD1):c.1452C>G (p.Pro484=) rs782546330
NM_000033.3(ABCD1):c.1467G>A (p.Val489=) rs782516659
NM_000033.3(ABCD1):c.146_159delCCGCCGGGGAGCCC (p.Pro49Hisfs)
NM_000033.3(ABCD1):c.1489-6delC rs398123101
NM_000033.3(ABCD1):c.1523C>A (p.Pro508His)
NM_000033.3(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792
NM_000033.3(ABCD1):c.1532G>A (p.Cys511Tyr) rs1557054745
NM_000033.3(ABCD1):c.1533C>G (p.Cys511Trp) rs782370364
NM_000033.3(ABCD1):c.1534G>A (p.Gly512Ser)
NM_000033.3(ABCD1):c.1544C>T (p.Ser515Phe) rs128624223
NM_000033.3(ABCD1):c.1548G>A (p.Leu516=) rs41314153
NM_000033.3(ABCD1):c.1552C>G (p.Arg518Gly) rs128624224
NM_000033.3(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.3(ABCD1):c.1552del (p.Arg518Glyfs) rs387906495
NM_000033.3(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102
NM_000033.3(ABCD1):c.1567C>T (p.Leu523Phe) rs1159943880
NM_000033.3(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029
NM_000033.3(ABCD1):c.1592T>C (p.Leu531Pro) rs193922094
NM_000033.3(ABCD1):c.1599G>T (p.Lys533Asn)
NM_000033.3(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.3(ABCD1):c.1634+1G>A
NM_000033.3(ABCD1):c.1635-2A>G
NM_000033.3(ABCD1):c.1644G>A (p.Met548Ile)
NM_000033.3(ABCD1):c.1660dup (p.Arg554Profs)
NM_000033.3(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.3(ABCD1):c.16_22delAGGCCCCinsCT (p.Arg6Leufs) rs1557052133
NM_000033.3(ABCD1):c.1744G>A (p.Val582Ile) rs76180859
NM_000033.3(ABCD1):c.1746_1748delCGT (p.Val583del) rs1557054859
NM_000033.3(ABCD1):c.1747G>A (p.Val583Met)
NM_000033.3(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.3(ABCD1):c.1763T>A (p.Ile588Asn)
NM_000033.3(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.3(ABCD1):c.1780+2T>G rs1557054875
NM_000033.3(ABCD1):c.1780+4G>A rs193922095
NM_000033.3(ABCD1):c.1810G>A (p.Val604Ile) rs151201945
NM_000033.3(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.3(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225
NM_000033.3(ABCD1):c.1820_1823delGTGG (p.Gly607Alafs) rs1557055253
NM_000033.3(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.3(ABCD1):c.1826A>G (p.Glu609Gly) rs1557055260
NM_000033.3(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.3(ABCD1):c.1865+1G>A
NM_000033.3(ABCD1):c.1866-10G>A rs398123108
NM_000033.3(ABCD1):c.1866-1G>A
NM_000033.3(ABCD1):c.1876G>A (p.Ala626Thr)
NM_000033.3(ABCD1):c.1893C>T (p.Cys631=) rs1557055319
NM_000033.3(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.3(ABCD1):c.1902C>T (p.Ala634=) rs141110958
NM_000033.3(ABCD1):c.1914C>T (p.Asp638=) rs199723613
NM_000033.3(ABCD1):c.1978C>T (p.Arg660Trp)
NM_000033.3(ABCD1):c.1979G>T (p.Arg660Leu) rs1557055340
NM_000033.3(ABCD1):c.1998C>A (p.Tyr666Ter) rs1170974058
NM_000033.3(ABCD1):c.1998_1999insGC (p.His667Alafs) rs1557055392
NM_000033.3(ABCD1):c.2003C>T (p.Thr668Ile) rs1557055398
NM_000033.3(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.3(ABCD1):c.2035T>A (p.Trp679Arg) rs1557055405
NM_000033.3(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.3(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261
NM_000033.3(ABCD1):c.2112G>A (p.Ala704=) rs372309740
NM_000033.3(ABCD1):c.2134C>T (p.Arg712Cys)
NM_000033.3(ABCD1):c.2190G>A (p.Pro730=) rs193922096
NM_000033.3(ABCD1):c.2201C>T (p.Pro734Leu) rs368462762
NM_000033.3(ABCD1):c.229_237delTGGCTCCTG (p.Trp77_Leu79del)
NM_000033.3(ABCD1):c.238C>T (p.Arg80Trp) rs868977355
NM_000033.3(ABCD1):c.249C>T (p.Phe83=) rs782628755
NM_000033.3(ABCD1):c.253_254insC (p.Arg85Profs) rs713993050
NM_000033.3(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.3(ABCD1):c.293C>T (p.Ser98Leu) rs1557052294
NM_000033.3(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.3(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.3(ABCD1):c.392G>T (p.Gly131Val) rs367799134
NM_000033.3(ABCD1):c.415_417delCTC (p.Leu139del) rs1557052351
NM_000033.3(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000033.3(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.3(ABCD1):c.433A>G (p.Thr145Ala)
NM_000033.3(ABCD1):c.442A>T (p.Asn148Tyr) rs1557052362
NM_000033.3(ABCD1):c.443A>G (p.Asn148Ser) rs128624216
NM_000033.3(ABCD1):c.452T>C (p.Ile151Thr)
NM_000033.3(ABCD1):c.454C>T (p.Arg152Cys)
NM_000033.3(ABCD1):c.471A>G (p.Gln157=) rs151148684
NM_000033.3(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.3(ABCD1):c.50G>A (p.Arg17His)
NM_000033.3(ABCD1):c.520T>G (p.Tyr174Asp) rs128624217
NM_000033.3(ABCD1):c.521A>G (p.Tyr174Cys) rs1557052390
NM_000033.3(ABCD1):c.537_544dup (p.Arg182Profs) rs1557052397
NM_000033.3(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.3(ABCD1):c.582C>G (p.Asp194Glu)
NM_000033.3(ABCD1):c.638C>A (p.Ser213Tyr)
NM_000033.3(ABCD1):c.651G>C (p.Lys217Asn) rs864309520
NM_000033.3(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.3(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.3(ABCD1):c.70delC (p.Leu24Serfs) rs1557052171
NM_000033.3(ABCD1):c.739G>A (p.Ala247Thr) rs782487174
NM_000033.3(ABCD1):c.756C>A (p.Phe252Leu)
NM_000033.3(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000033.3(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.3(ABCD1):c.766_769dup (p.Val257Glufs) rs1557052530
NM_000033.3(ABCD1):c.773T>C (p.Leu258Pro)
NM_000033.3(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.3(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.3(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.3(ABCD1):c.871G>A (p.Glu291Lys) rs128624213
NM_000033.3(ABCD1):c.874_876delGAG (p.Glu292del) rs387906496
NM_000033.3(ABCD1):c.876G>C (p.Glu292Asp) rs1557052573
NM_000033.3(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.3(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.3(ABCD1):c.901-10C>T rs2269365
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr)
NM_000033.4(ABCD1):c.1225-7_1239del
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile)
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
NM_000033.4(ABCD1):c.2010dup (p.Leu671Alafs)
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro)
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys)
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser)
NM_000033.4:c.1628delC

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