ClinVar Miner

List of variants reported as uncertain significance for adrenoleukodystrophy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 271
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261 0.00013
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.2065C>T (p.Arg689Cys) rs782376163 0.00007
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys) rs781983308 0.00004
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr) rs782809184 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.1082A>G (p.Asp361Gly) rs1557054156 0.00002
NM_000033.4(ABCD1):c.1790C>G (p.Ala597Gly) rs782065134 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.820C>T (p.Arg274Trp) rs782760033 0.00002
NM_000033.4(ABCD1):c.922C>T (p.Arg308Cys) rs782419107 0.00002
NM_000033.4(ABCD1):c.1138G>A (p.Glu380Lys) rs782007706 0.00001
NM_000033.4(ABCD1):c.1156A>T (p.Thr386Ser) rs1205548762 0.00001
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg) rs1569541033 0.00001
NM_000033.4(ABCD1):c.1915G>A (p.Val639Met) rs782706738 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.2134C>T (p.Arg712Cys) rs1557055441 0.00001
NM_000033.4(ABCD1):c.2189C>T (p.Pro730Leu) rs375489051 0.00001
NM_000033.4(ABCD1):c.2209C>T (p.Pro737Ser) rs1290462360 0.00001
NM_000033.4(ABCD1):c.326T>C (p.Val109Ala) rs782138372 0.00001
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys) rs1557052306 0.00001
NM_000033.4(ABCD1):c.673A>G (p.Thr225Ala) rs1557052459 0.00001
NM_000033.4(ABCD1):c.776G>A (p.Arg259Gln) rs200191405 0.00001
NM_000033.4(ABCD1):c.818C>T (p.Ala273Val) rs868992338 0.00001
NM_000033.4(ABCD1):c.881C>T (p.Ala294Val) rs2091712106 0.00001
NC_000023.10:g.(?_152014869)_(153363122_?)dup
NC_000023.10:g.(?_152990712)_(153009199_?)dup
NC_000023.10:g.(?_153001546)_(154563736_?)dup
NM_000033.4(ABCD1):c.1010A>G (p.Tyr337Cys) rs2091726692
NM_000033.4(ABCD1):c.1020C>A (p.Ser340Arg)
NM_000033.4(ABCD1):c.1025C>T (p.Ser342Leu)
NM_000033.4(ABCD1):c.1031T>C (p.Leu344Pro) rs2148392029
NM_000033.4(ABCD1):c.1075G>A (p.Glu359Lys)
NM_000033.4(ABCD1):c.107T>C (p.Val36Ala)
NM_000033.4(ABCD1):c.1081+5G>T
NM_000033.4(ABCD1):c.1081G>T (p.Asp361Tyr)
NM_000033.4(ABCD1):c.1082-12G>A rs2148395344
NM_000033.4(ABCD1):c.1091C>G (p.Ala364Gly)
NM_000033.4(ABCD1):c.1099A>G (p.Lys367Glu)
NM_000033.4(ABCD1):c.1126G>A (p.Glu376Lys)
NM_000033.4(ABCD1):c.1141_1142delinsTT (p.Arg381Phe)
NM_000033.4(ABCD1):c.1145C>G (p.Thr382Arg) rs2148395416
NM_000033.4(ABCD1):c.1156A>C (p.Thr386Pro) rs1205548762
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser) rs1603234474
NM_000033.4(ABCD1):c.1162G>C (p.Ala388Pro) rs2091749101
NM_000033.4(ABCD1):c.1170CCT[1] (p.Leu392del)
NM_000033.4(ABCD1):c.1174C>G (p.Leu392Val)
NM_000033.4(ABCD1):c.1183G>C (p.Ala395Pro) rs1557054176
NM_000033.4(ABCD1):c.1184C>T (p.Ala395Val) rs2148395465
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.1198G>A (p.Glu400Lys) rs2091749296
NM_000033.4(ABCD1):c.1207A>G (p.Met403Val)
NM_000033.4(ABCD1):c.1211CGT[1] (p.Ser405del) rs2148395492
NM_000033.4(ABCD1):c.1224+4C>T
NM_000033.4(ABCD1):c.1233G>C (p.Glu411Asp)
NM_000033.4(ABCD1):c.1244A>G (p.Tyr415Cys)
NM_000033.4(ABCD1):c.1246A>G (p.Thr416Ala) rs2091749822
NM_000033.4(ABCD1):c.1247C>A (p.Thr416Lys) rs2091749844
NM_000033.4(ABCD1):c.1255G>C (p.Val419Leu)
NM_000033.4(ABCD1):c.1259A>T (p.His420Leu) rs2091749942
NM_000033.4(ABCD1):c.1273G>A (p.Val425Ile)
NM_000033.4(ABCD1):c.1281A>T (p.Glu427Asp) rs2148395625
NM_000033.4(ABCD1):c.1297C>G (p.His433Asp) rs2091750125
NM_000033.4(ABCD1):c.1393G>A (p.Gly465Ser)
NM_000033.4(ABCD1):c.1394-3C>G
NM_000033.4(ABCD1):c.1405G>C (p.Asp469His)
NM_000033.4(ABCD1):c.1432A>T (p.Asn478Tyr)
NM_000033.4(ABCD1):c.1463TGG[2] (p.Val490del) rs1603234766
NM_000033.4(ABCD1):c.1477C>G (p.Leu493Val)
NM_000033.4(ABCD1):c.1487G>C (p.Arg496Thr)
NM_000033.4(ABCD1):c.1488+5G>A
NM_000033.4(ABCD1):c.1488+5G>C rs2091753189
NM_000033.4(ABCD1):c.148G>A (p.Ala50Thr)
NM_000033.4(ABCD1):c.1490T>G (p.Val497Gly)
NM_000033.4(ABCD1):c.1502T>G (p.Met501Arg)
NM_000033.4(ABCD1):c.1511T>C (p.Leu504Pro)
NM_000033.4(ABCD1):c.1514T>C (p.Ile505Thr) rs1557054740
NM_000033.4(ABCD1):c.1516A>G (p.Thr506Ala)
NM_000033.4(ABCD1):c.1517C>G (p.Thr506Arg)
NM_000033.4(ABCD1):c.1523C>A (p.Pro508His) rs1569541087
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp) rs782370364
NM_000033.4(ABCD1):c.1573C>A (p.Pro525Thr)
NM_000033.4(ABCD1):c.1577C>G (p.Thr526Arg) rs2091762670
NM_000033.4(ABCD1):c.1591C>T (p.Leu531Phe) rs2148397623
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn) rs1569541092
NM_000033.4(ABCD1):c.1615A>G (p.Met539Val) rs782440686
NM_000033.4(ABCD1):c.1618T>C (p.Phe540Leu)
NM_000033.4(ABCD1):c.161C>T (p.Thr54Met)
NM_000033.4(ABCD1):c.1620C>G (p.Phe540Leu)
NM_000033.4(ABCD1):c.1622A>G (p.Tyr541Cys) rs2148397662
NM_000033.4(ABCD1):c.1625T>C (p.Ile542Thr)
NM_000033.4(ABCD1):c.1635G>A (p.Arg545=)
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu) rs1603235394
NM_000033.4(ABCD1):c.1642A>G (p.Met548Val) rs201054474
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile) rs1569541112
NM_000033.4(ABCD1):c.1651G>T (p.Gly551Cys) rs2148397892
NM_000033.4(ABCD1):c.1652G>A (p.Gly551Asp) rs2148397896
NM_000033.4(ABCD1):c.1652G>T (p.Gly551Val)
NM_000033.4(ABCD1):c.1657C>G (p.Leu553Val) rs2148397902
NM_000033.4(ABCD1):c.1660C>T (p.Arg554Cys)
NM_000033.4(ABCD1):c.1663G>T (p.Asp555Tyr)
NM_000033.4(ABCD1):c.1668G>T (p.Gln556His) rs2091764450
NM_000033.4(ABCD1):c.1670T>C (p.Val557Ala)
NM_000033.4(ABCD1):c.1681G>A (p.Asp561Asn) rs2091764566
NM_000033.4(ABCD1):c.1681G>T (p.Asp561Tyr)
NM_000033.4(ABCD1):c.1684T>A (p.Ser562Thr) rs2091764595
NM_000033.4(ABCD1):c.1684T>C (p.Ser562Pro) rs2091764595
NM_000033.4(ABCD1):c.1696A>G (p.Met566Val)
NM_000033.4(ABCD1):c.1715C>T (p.Ser572Leu)
NM_000033.4(ABCD1):c.1748T>C (p.Val583Ala)
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn) rs1569541122
NM_000033.4(ABCD1):c.1778G>C (p.Gly593Ala)
NM_000033.4(ABCD1):c.1780+5_1780+6insT
NM_000033.4(ABCD1):c.1794G>T (p.Met598Ile)
NM_000033.4(ABCD1):c.179T>C (p.Val60Ala)
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro) rs2148399015
NM_000033.4(ABCD1):c.181G>T (p.Ala61Ser)
NM_000033.4(ABCD1):c.1820G>A (p.Gly607Asp) rs2091772324
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000033.4(ABCD1):c.1857C>A (p.Phe619Leu)
NM_000033.4(ABCD1):c.1866-15G>A
NM_000033.4(ABCD1):c.1876_1877delinsTT (p.Ala626Phe)
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro) rs2148399201
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
NM_000033.4(ABCD1):c.1904_1912del (p.Val635_Ile637del)
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.1924A>G (p.Lys642Glu)
NM_000033.4(ABCD1):c.1945G>A (p.Asp649Asn)
NM_000033.4(ABCD1):c.1948G>A (p.Ala650Thr) rs1557055332
NM_000033.4(ABCD1):c.1948G>C (p.Ala650Pro) rs1557055332
NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val) rs1557055333
NM_000033.4(ABCD1):c.1952G>T (p.Gly651Val) rs2091773987
NM_000033.4(ABCD1):c.1964T>A (p.Leu655His)
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro) rs2148399307
NM_000033.4(ABCD1):c.1972A>G (p.Thr658Ala) rs2148399309
NM_000033.4(ABCD1):c.1975C>T (p.His659Tyr) rs2091774102
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.1982C>T (p.Pro661Leu)
NM_000033.4(ABCD1):c.1984T>C (p.Ser662Pro) rs2148399322
NM_000033.4(ABCD1):c.1991+3A>G
NM_000033.4(ABCD1):c.1992-2A>G rs797044626
NM_000033.4(ABCD1):c.1992-6G>A
NM_000033.4(ABCD1):c.1997A>C (p.Tyr666Ser) rs2091775035
NM_000033.4(ABCD1):c.1997A>G (p.Tyr666Cys) rs2091775035
NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro) rs1603236086
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala) rs1603236086
NM_000033.4(ABCD1):c.2007C>G (p.His669Gln) rs2148399466
NM_000033.4(ABCD1):c.2011C>G (p.Leu671Val)
NM_000033.4(ABCD1):c.2017T>G (p.Phe673Val)
NM_000033.4(ABCD1):c.2020G>C (p.Asp674His)
NM_000033.4(ABCD1):c.2044G>A (p.Glu682Lys)
NM_000033.4(ABCD1):c.2050_2051delinsGG (p.Leu684Gly)
NM_000033.4(ABCD1):c.2053G>A (p.Asp685Asn)
NM_000033.4(ABCD1):c.2056T>G (p.Ser686Ala)
NM_000033.4(ABCD1):c.2066G>A (p.Arg689His)
NM_000033.4(ABCD1):c.2073C>A (p.Ser691Arg)
NM_000033.4(ABCD1):c.2073C>G (p.Ser691Arg)
NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met) rs782311214
NM_000033.4(ABCD1):c.2089C>A (p.Gln697Lys)
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu) rs782701925
NM_000033.4(ABCD1):c.2106_2122del (p.Leu703fs)
NM_000033.4(ABCD1):c.2120C>T (p.Pro707Leu)
NM_000033.4(ABCD1):c.2127G>T (p.Met709Ile)
NM_000033.4(ABCD1):c.2132G>A (p.Arg711Gln)
NM_000033.4(ABCD1):c.2135G>A (p.Arg712His) rs1557055447
NM_000033.4(ABCD1):c.2152C>T (p.Gln718Ter)
NM_000033.4(ABCD1):c.2157C>G (p.Ile719Met)
NM_000033.4(ABCD1):c.2163C>T (p.Gly721=)
NM_000033.4(ABCD1):c.2178_2220del (p.Ala727fs)
NM_000033.4(ABCD1):c.2180C>T (p.Ala727Val)
NM_000033.4(ABCD1):c.2188C>T (p.Pro730Ser) rs1603236153
NM_000033.4(ABCD1):c.2189C>G (p.Pro730Arg)
NM_000033.4(ABCD1):c.2205dup (p.Gly736fs)
NM_000033.4(ABCD1):c.2216G>T (p.Gly739Val)
NM_000033.4(ABCD1):c.2221C>T (p.Gln741Ter) rs2091776291
NM_000033.4(ABCD1):c.2228C>A (p.Ala743Asp) rs1603236168
NM_000033.4(ABCD1):c.2238A>G (p.Ter746Trp)
NM_000033.4(ABCD1):c.224T>C (p.Leu75Pro)
NM_000033.4(ABCD1):c.22C>T (p.Arg8Trp)
NM_000033.4(ABCD1):c.233T>A (p.Leu78His)
NM_000033.4(ABCD1):c.233T>G (p.Leu78Arg)
NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp) rs868977355
NM_000033.4(ABCD1):c.239_240insTTTGCG (p.Leu81_Leu82insArgLeu)
NM_000033.4(ABCD1):c.254G>C (p.Arg85Pro) rs782221851
NM_000033.4(ABCD1):c.254G>T (p.Arg85Leu) rs782221851
NM_000033.4(ABCD1):c.254_280del (p.Arg85_Leu93del) rs2091704899
NM_000033.4(ABCD1):c.257T>A (p.Val86Asp) rs2148388871
NM_000033.4(ABCD1):c.263G>A (p.Cys88Tyr) rs2091705016
NM_000033.4(ABCD1):c.283G>C (p.Ala95Pro)
NM_000033.4(ABCD1):c.292T>C (p.Ser98Pro)
NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro) rs1557052298
NM_000033.4(ABCD1):c.301T>G (p.Leu101Val)
NM_000033.4(ABCD1):c.302T>C (p.Leu101Ser)
NM_000033.4(ABCD1):c.332T>C (p.Val111Ala)
NM_000033.4(ABCD1):c.389T>C (p.Phe130Ser)
NM_000033.4(ABCD1):c.394T>C (p.Trp132Arg)
NM_000033.4(ABCD1):c.467G>A (p.Gly156Asp) rs2091707109
NM_000033.4(ABCD1):c.473T>A (p.Leu158Gln)
NM_000033.4(ABCD1):c.485T>C (p.Phe162Ser) rs2148389278
NM_000033.4(ABCD1):c.499G>C (p.Val167Leu)
NM_000033.4(ABCD1):c.503C>T (p.Ala168Val)
NM_000033.4(ABCD1):c.509C>T (p.Ala170Val)
NM_000033.4(ABCD1):c.530A>T (p.Gln177Leu) rs2091708007
NM_000033.4(ABCD1):c.533A>C (p.Gln178Pro) rs2091708025
NM_000033.4(ABCD1):c.539A>C (p.Tyr180Ser)
NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys) rs2091708150
NM_000033.4(ABCD1):c.542A>C (p.Tyr181Ser) rs1557052401
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.562G>T (p.Gly188Trp)
NM_000033.4(ABCD1):c.571C>T (p.Arg191Cys)
NM_000033.4(ABCD1):c.575_592dup (p.Leu197_Thr198insAsnProAspGlnSerLeu)
NM_000033.4(ABCD1):c.583C>A (p.Gln195Lys)
NM_000033.4(ABCD1):c.584A>G (p.Gln195Arg)
NM_000033.4(ABCD1):c.590T>G (p.Leu197Arg)
NM_000033.4(ABCD1):c.600C>A (p.Asp200Glu) rs782724538
NM_000033.4(ABCD1):c.620C>T (p.Ser207Phe)
NM_000033.4(ABCD1):c.638C>A (p.Ser213Tyr) rs782567718
NM_000033.4(ABCD1):c.638C>T (p.Ser213Phe) rs782567718
NM_000033.4(ABCD1):c.647C>A (p.Thr216Asn)
NM_000033.4(ABCD1):c.647C>T (p.Thr216Ile) rs1603232050
NM_000033.4(ABCD1):c.65T>C (p.Leu22Pro)
NM_000033.4(ABCD1):c.665T>G (p.Val222Gly)
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val) rs2091709505
NM_000033.4(ABCD1):c.700C>G (p.Arg234Gly)
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu) rs782723557
NM_000033.4(ABCD1):c.706C>G (p.Arg236Gly)
NM_000033.4(ABCD1):c.712G>A (p.Ala238Thr)
NM_000033.4(ABCD1):c.712G>T (p.Ala238Ser)
NM_000033.4(ABCD1):c.716G>T (p.Gly239Val)
NM_000033.4(ABCD1):c.728C>G (p.Pro243Arg)
NM_000033.4(ABCD1):c.743G>A (p.Gly248Asp)
NM_000033.4(ABCD1):c.748G>A (p.Val250Met)
NM_000033.4(ABCD1):c.754T>C (p.Phe252Leu)
NM_000033.4(ABCD1):c.763G>C (p.Ala255Pro)
NM_000033.4(ABCD1):c.773T>C (p.Leu258Pro) rs1569540731
NM_000033.4(ABCD1):c.775C>T (p.Arg259Trp)
NM_000033.4(ABCD1):c.778G>T (p.Ala260Ser)
NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser) rs1603232171
NM_000033.4(ABCD1):c.794T>G (p.Phe265Cys)
NM_000033.4(ABCD1):c.799G>A (p.Glu267Lys)
NM_000033.4(ABCD1):c.805G>A (p.Val269Met) rs2091711117
NM_000033.4(ABCD1):c.806T>G (p.Val269Gly)
NM_000033.4(ABCD1):c.815A>G (p.Glu272Gly) rs2091711183
NM_000033.4(ABCD1):c.817G>T (p.Ala273Ser) rs1324272283
NM_000033.4(ABCD1):c.818C>A (p.Ala273Glu) rs868992338
NM_000033.4(ABCD1):c.828G>T (p.Lys276Asn)
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro) rs781904944
NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser) rs782334088
NM_000033.4(ABCD1):c.85G>C (p.Ala29Pro)
NM_000033.4(ABCD1):c.86C>A (p.Ala29Asp)
NM_000033.4(ABCD1):c.896A>G (p.His299Arg) rs782430461
NM_000033.4(ABCD1):c.923G>C (p.Arg308Pro) rs781978255
NM_000033.4(ABCD1):c.932A>G (p.Gln311Arg)
NM_000033.4(ABCD1):c.938T>A (p.Leu313Gln) rs2091726449
NM_000033.4(ABCD1):c.943T>C (p.Ser315Pro) rs2091726463
NM_000033.4(ABCD1):c.956T>C (p.Leu319Pro)
NM_000033.4(ABCD1):c.967G>A (p.Glu323Lys)
NM_000033.4(ABCD1):c.971G>A (p.Arg324His)
NM_000033.4(ABCD1):c.971G>C (p.Arg324Pro) rs148904415
NM_000033.4(ABCD1):c.982G>A (p.Val328Ile) rs2148391987
NM_000033.4(ABCD1):c.983T>G (p.Val328Gly) rs2148391989
NM_000033.4(ABCD1):c.986T>C (p.Met329Thr)
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly) rs1557053241
NM_000033.4(ABCD1):c.995A>G (p.Gln332Arg)

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