ClinVar Miner

List of variants in gene ABCD1 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1748T>C (p.Val583Ala) rs79383557 0.00019
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029 0.00010
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser) rs146525445 0.00008
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg) rs201979180 0.00008
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser) rs375019683 0.00006
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys) rs782376163 0.00006
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys) rs781983308 0.00004
NM_000033.4(ABCD1):c.2032G>A (p.Gly678Ser) rs782608984 0.00003
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.785C>T (p.Ser262Leu) rs1204814114 0.00002
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val) rs781970988 0.00002
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp) rs782760033 0.00002
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg) rs1569541033 0.00001
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035 0.00001
NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile) rs1159943880 0.00001
NM_000033.4(ABCD1):c.164A>C (p.Gln55Pro) rs1557052224 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.2131C>T (p.Arg711Trp) rs782583464 0.00001
NM_000033.4(ABCD1):c.2143G>A (p.Glu715Lys) rs1557055455 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000033.4(ABCD1):c.775C>T (p.Arg259Trp) rs781948018 0.00001
NM_000033.4(ABCD1):c.776G>A (p.Arg259Gln) rs200191405 0.00001
NM_000033.4(ABCD1):c.1025C>T (p.Ser342Leu) rs2522276389
NM_000033.4(ABCD1):c.1114AAG[1] (p.Lys373del) rs782627940
NM_000033.4(ABCD1):c.1132G>A (p.Val378Met)
NM_000033.4(ABCD1):c.1190A>G (p.Asp397Gly)
NM_000033.4(ABCD1):c.1192G>A (p.Ala398Thr) rs2148395474
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro) rs1569541011
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln) rs1046633404
NM_000033.4(ABCD1):c.1255G>C (p.Val419Leu) rs376433600
NM_000033.4(ABCD1):c.1256T>G (p.Val419Gly)
NM_000033.4(ABCD1):c.1273G>T (p.Val425Leu)
NM_000033.4(ABCD1):c.1438C>A (p.Pro480Thr) rs2148396062
NM_000033.4(ABCD1):c.1441A>G (p.Ile481Val) rs1557054321
NM_000033.4(ABCD1):c.1441A>T (p.Ile481Phe)
NM_000033.4(ABCD1):c.146C>A (p.Pro49His) rs1557052213
NM_000033.4(ABCD1):c.1477C>G (p.Leu493Val) rs1354388799
NM_000033.4(ABCD1):c.1513A>C (p.Ile505Leu)
NM_000033.4(ABCD1):c.1615A>G (p.Met539Val) rs782440686
NM_000033.4(ABCD1):c.1624A>C (p.Ile542Leu) rs2091763035
NM_000033.4(ABCD1):c.1636C>T (p.Pro546Ser) rs2148397874
NM_000033.4(ABCD1):c.1672A>T (p.Ile558Phe) rs2522298713
NM_000033.4(ABCD1):c.1751A>G (p.His584Arg) rs2091764903
NM_000033.4(ABCD1):c.1854G>A (p.Met618Ile)
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro) rs2148399201
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1936G>T (p.Ala646Ser)
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.1991+5G>A rs781878761
NM_000033.4(ABCD1):c.2011C>A (p.Leu671Ile) rs1557055399
NM_000033.4(ABCD1):c.2037G>C (p.Trp679Cys) rs1557055406
NM_000033.4(ABCD1):c.2056T>G (p.Ser686Ala) rs2522304507
NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met) rs782311214
NM_000033.4(ABCD1):c.2128C>T (p.Gln710Ter) rs1479171194
NM_000033.4(ABCD1):c.2149_2231del (p.Cys717fs)
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu) rs368462762
NM_000033.4(ABCD1):c.225_245del (p.Leu76_Leu82del) rs1064794778
NM_000033.4(ABCD1):c.275G>A (p.Gly92Glu) rs782394070
NM_000033.4(ABCD1):c.367G>A (p.Val123Ile) rs1009106172
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr) rs1569540692
NM_000033.4(ABCD1):c.485T>C (p.Phe162Ser) rs2148389278
NM_000033.4(ABCD1):c.53C>T (p.Thr18Met) rs1557052159
NM_000033.4(ABCD1):c.545G>A (p.Arg182Gln) rs1383386358
NM_000033.4(ABCD1):c.577C>G (p.Pro193Ala) rs1557052424
NM_000033.4(ABCD1):c.641A>G (p.Asn214Ser)
NM_000033.4(ABCD1):c.757C>T (p.Leu253Phe) rs150151955
NM_000033.4(ABCD1):c.776G>C (p.Arg259Pro) rs200191405
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu) rs868934170
NM_000033.4(ABCD1):c.86C>A (p.Ala29Asp) rs2522263090
NM_000033.4(ABCD1):c.884T>G (p.Phe295Cys)
NM_000033.4(ABCD1):c.910G>C (p.Ala304Pro) rs1557053214
NM_000033.4(ABCD1):c.929A>T (p.Tyr310Phe)
NM_000033.4(ABCD1):c.938T>A (p.Leu313Gln) rs2091726449
NM_000033.4(ABCD1):c.971G>A (p.Arg324His) rs148904415
NM_000033.4(ABCD1):c.991G>A (p.Glu331Lys) rs2522276239

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