ClinVar Miner

List of variants in gene ABCD1 reported as pathogenic for not provided

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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.1553G>A (p.Arg518Gln) rs398123102 0.00001
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225 0.00001
NM_000033.4(ABCD1):c.1028G>T (p.Gly343Val)
NM_000033.4(ABCD1):c.1045del (p.Val349fs) rs2091726859
NM_000033.4(ABCD1):c.104del (p.Leu35fs) rs2091703332
NM_000033.4(ABCD1):c.1076_1077del (p.Glu359fs) rs1569540883
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1203del (p.Ile402fs) rs1569541007
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000033.4(ABCD1):c.1359del (p.Gly454fs) rs1603234574
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter) rs398123100
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1428C>A (p.Cys476Ter)
NM_000033.4(ABCD1):c.1440del (p.Ile481fs) rs1557054318
NM_000033.4(ABCD1):c.1504dup (p.His502fs)
NM_000033.4(ABCD1):c.1533C>A (p.Cys511Ter)
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1621_1628del (p.Tyr541fs) rs1569541093
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1628del (p.Pro543fs) rs1603235321
NM_000033.4(ABCD1):c.1635-2A>G rs1569541109
NM_000033.4(ABCD1):c.164dup (p.Glu56fs) rs2148388748
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) rs201568579
NM_000033.4(ABCD1):c.1670_1671del (p.Val557fs) rs1603235406
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter) rs201114595
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.1781-1G>A rs797044781
NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter) rs398123107
NM_000033.4(ABCD1):c.1807del (p.Asp603fs)
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.1849C>G (p.Arg617Gly) rs4010613
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.1856_1865+17del
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile) rs1064793877
NM_000033.4(ABCD1):c.1966_1967dup (p.Ile657fs) rs2148399303
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000033.4(ABCD1):c.1992-2A>G rs797044626
NM_000033.4(ABCD1):c.2006_2007del (p.His669fs) rs797044625
NM_000033.4(ABCD1):c.201del (p.Met67fs)
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
NM_000033.4(ABCD1):c.253dup (p.Arg85fs) rs713993050
NM_000033.4(ABCD1):c.268G>T (p.Glu90Ter) rs2148388883
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu) rs1557052294
NM_000033.4(ABCD1):c.29G>A (p.Trp10Ter) rs2148388538
NM_000033.4(ABCD1):c.30G>A (p.Trp10Ter) rs1304001811
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys) rs2148388971
NM_000033.4(ABCD1):c.31_46del (p.Arg11fs) rs398123109
NM_000033.4(ABCD1):c.323C>T (p.Ser108Leu) rs2091705631
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg) rs398123110
NM_000033.4(ABCD1):c.397C>T (p.Gln133Ter)
NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter) rs398123111
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter) rs2091706547
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.425_426del (p.Leu142fs) rs2148389181
NM_000033.4(ABCD1):c.482C>A (p.Ser161Ter) rs373957035
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys) rs1557052390
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter) rs1057516052
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.678del (p.Tyr227fs)
NM_000033.4(ABCD1):c.692_694delinsC (p.Arg231fs)
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs)
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.799del (p.Glu267fs) rs2148389850
NM_000033.4(ABCD1):c.832dup (p.Glu278fs) rs2148389899
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter) rs1557052555
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.901-1G>A rs2148391908
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter) rs1603233089

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