ClinVar Miner

List of variants in gene ABCD1 reported as pathogenic for X-linked cerebral adrenoleukodystrophy

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 59
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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.-18_8del (p.Met1_Gly66del) rs387906497
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.1201C>T (p.Arg401Trp) rs727503786
NM_000033.3(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.3(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
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.1390C>T (p.Arg464Ter) rs128624221
NM_000033.3(ABCD1):c.1415_1416delAG (p.Gln472Argfs) rs387906494
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.146_159delCCGCCGGGGAGCCC (p.Pro49Hisfs)
NM_000033.3(ABCD1):c.1532G>A (p.Cys511Tyr) rs1557054745
NM_000033.3(ABCD1):c.1534G>A (p.Gly512Ser)
NM_000033.3(ABCD1):c.1544C>T (p.Ser515Phe) rs128624223
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.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.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.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.3(ABCD1):c.1780+2T>G rs1557054875
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.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.1876G>A (p.Ala626Thr)
NM_000033.3(ABCD1):c.1978C>T (p.Arg660Trp)
NM_000033.3(ABCD1):c.1998C>A (p.Tyr666Ter) rs1170974058
NM_000033.3(ABCD1):c.253_254insC (p.Arg85Profs) rs713993050
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.421G>A (p.Ala141Thr) rs193922097
NM_000033.3(ABCD1):c.443A>G (p.Asn148Ser) rs128624216
NM_000033.3(ABCD1):c.454C>T (p.Arg152Cys)
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.70delC (p.Leu24Serfs) rs1557052171
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.796G>A (p.Gly266Arg) rs128624218
NM_000033.3(ABCD1):c.871G>A (p.Glu291Lys) rs128624213
NM_000033.3(ABCD1):c.874_876delGAG (p.Glu292del) rs387906496
NM_000033.4(ABCD1):c.1225-7_1239del
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4:c.1628delC

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