ClinVar Miner

List of variants in gene ABCD1 reported as uncertain significance

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Total variants: 122
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HGVS dbSNP
NM_000033.4(ABCD1):c.*10C>T rs1057515814
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.*412T>C rs1057515815
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.*795C>T rs1057515817
NM_000033.4(ABCD1):c.*870G>T rs72616452
NM_000033.4(ABCD1):c.*903G>A rs78155328
NM_000033.4(ABCD1):c.-10C>T rs782754717
NM_000033.4(ABCD1):c.-342G>A rs912340339
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser) rs375019683
NM_000033.4(ABCD1):c.1081G>A (p.Asp361Asn) rs1557053262
NM_000033.4(ABCD1):c.110G>T (p.Arg37Leu) rs1257848735
NM_000033.4(ABCD1):c.1114_1116AAG[1] (p.Lys373del) rs782627940
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys) rs781983308
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser)
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.1237G>C (p.Ala413Pro) rs1569541011
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg) rs1569541033
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=) rs782546330
NM_000033.4(ABCD1):c.146C>A (p.Pro49His) rs1557052213
NM_000033.4(ABCD1):c.1514T>C (p.Ile505Thr) rs1557054740
NM_000033.4(ABCD1):c.1516A>C (p.Thr506Pro) rs797044766
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.1533C>G (p.Cys511Trp) rs782370364
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe) rs1159943880
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn) rs1569541092
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu)
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile) rs1569541112
NM_000033.4(ABCD1):c.1658T>C (p.Leu553Pro) rs1557054849
NM_000033.4(ABCD1):c.1743_1745CGT[1] (p.Val583del) rs1557054859
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn) rs1569541122
NM_000033.4(ABCD1):c.1780+4G>A rs193922095
NM_000033.4(ABCD1):c.1781-5C>G
NM_000033.4(ABCD1):c.1790C>G (p.Ala597Gly) rs782065134
NM_000033.4(ABCD1):c.1792A>G (p.Met598Val) rs781856973
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr)
NM_000033.4(ABCD1):c.1832A>G (p.Gln611Arg) rs1569541194
NM_000033.4(ABCD1):c.1866-11C>A rs782126372
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=) rs1557055319
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1904T>C (p.Val635Ala) rs797044791
NM_000033.4(ABCD1):c.1912G>C (p.Asp638His) rs886044887
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)
NM_000033.4(ABCD1):c.1955T>A (p.Ile652Asn) rs797044790
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu) rs1557055340
NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro) rs886044882
NM_000033.4(ABCD1):c.1991+68_1992-4del
NM_000033.4(ABCD1):c.1992-15C>T rs782734602
NM_000033.4(ABCD1):c.1992-7T>A rs886044874
NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro)
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile) rs1557055398
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys) rs782376163
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp)
NM_000033.4(ABCD1):c.2134C>T (p.Arg712Cys) rs1557055441
NM_000033.4(ABCD1):c.2170G>A (p.Val724Met) rs782212963
NM_000033.4(ABCD1):c.2188C>T (p.Pro730Ser)
NM_000033.4(ABCD1):c.2209C>T (p.Pro737Ser) rs1290462360
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.234_242dup (p.Arg80_Leu82dup)
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.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg) rs201979180
NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro)
NM_000033.4(ABCD1):c.355G>C (p.Ala119Pro)
NM_000033.4(ABCD1):c.359G>A (p.Arg120His)
NM_000033.4(ABCD1):c.367G>A (p.Val123Ile) rs1009106172
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp)
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala) rs781900720
NM_000033.4(ABCD1):c.412_414CTC[1] (p.Leu139del) rs1557052351
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.433A>G (p.Thr145Ala) rs1292006620
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr) rs1569540692
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)
NM_000033.4(ABCD1):c.50G>A (p.Arg17His)
NM_000033.4(ABCD1):c.515G>A (p.Arg172His)
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr) rs1569540700
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly)
NM_000033.4(ABCD1):c.54G>A (p.Thr18=) rs781855598
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu) rs1569540703
NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys) rs1569540705
NM_000033.4(ABCD1):c.638C>A (p.Ser213Tyr)
NM_000033.4(ABCD1):c.647C>T (p.Thr216Ile)
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.673A>G (p.Thr225Ala)
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.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174
NM_000033.4(ABCD1):c.750G>C (p.Val250=) rs782196006
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000033.4(ABCD1):c.757C>T (p.Leu253Phe) rs150151955
NM_000033.4(ABCD1):c.773T>C (p.Leu258Pro) rs1569540731
NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser)
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val) rs781970988
NM_000033.4(ABCD1):c.818C>T (p.Ala273Val) rs868992338
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.4(ABCD1):c.838C>G (p.Arg280Gly) rs193922098
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys) rs782334088
NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp) rs1557052573
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)
NM_000033.4(ABCD1):c.900G>C (p.Glu300Asp) rs1569540743
NM_000033.4(ABCD1):c.988_1005del (p.Leu330_Met335del)

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