ClinVar Miner

List of variants in gene ABCD1 reported by Invitae

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Gene type:
ClinVar version:
Total variants: 124
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HGVS dbSNP
NC_000023.10:g.(?_153005536)_(153005701_?)del
NC_000023.10:g.(?_153008421)_(153009209_?)del
NC_000023.10:g.(?_153008431)_(153009199_?)del
NC_000023.10:g.(?_153008655)_(153009209_?)del
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs) rs387906497
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) rs185931852
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter) rs1569541000
NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs)
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter)
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys) rs781983308
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser)
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
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.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter) rs1557054210
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988
NM_000033.4(ABCD1):c.1404G>A (p.Val468=) rs782072629
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter)
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.1489-1G>A
NM_000033.4(ABCD1):c.1489-6del rs398123101
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.1532G>A (p.Cys511Tyr) rs1557054745
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp) rs782370364
NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly) rs128624224
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe) rs1159943880
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn) rs1569541092
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu)
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile) rs1569541112
NM_000033.4(ABCD1):c.1660dup (p.Arg554fs) rs1569541115
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs) rs1557052133
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.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.1784G>A (p.Trp595Ter)
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
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.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1866-1G>A rs1557055311
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
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.1902C>T (p.Ala634=) rs141110958
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu) rs1557055340
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter) rs1170974058
NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs) rs1557055392
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile) rs1557055398
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=) rs372309740
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp)
NM_000033.4(ABCD1):c.2134C>T (p.Arg712Cys) rs1557055441
NM_000033.4(ABCD1):c.2188C>T (p.Pro730Ser)
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.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.293C>T (p.Ser98Leu) rs1557052294
NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro)
NM_000033.4(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg)
NM_000033.4(ABCD1):c.36del (p.Asn13fs)
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp)
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.4(ABCD1):c.408del (p.Gln136fs)
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.433A>G (p.Thr145Ala) rs1292006620
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr) rs1557052362
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.488G>A (p.Arg163His) rs1057517954
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.521A>G (p.Tyr174Cys) rs1557052390
NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs) rs1557052397
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly)
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu) rs1569540703
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.701G>T (p.Arg234Leu) rs782723557
NM_000033.4(ABCD1):c.70del (p.Leu24fs) rs1557052171
NM_000033.4(ABCD1):c.723del (p.Trp242fs)
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)
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.773T>C (p.Leu258Pro) rs1569540731
NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser)
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg)
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
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.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter)
NM_000033.4(ABCD1):c.988_1005del (p.Leu330_Met335del)

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