ClinVar Miner

Variants in gene ABCD1 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 50
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000033.4(ABCD1):c.102del (p.Leu35fs) rs2148388645
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro) rs1557054173
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs) rs2091749146
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1529G>A (p.Gly510Asp) rs2148397558
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.1568T>C (p.Leu523Pro) rs2091762647
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter) rs2522298866
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1865+1G>A rs1569541198
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del) rs1603231784
NM_000033.4(ABCD1):c.253del (p.Arg85fs) rs713993050
NM_000033.4(ABCD1):c.290A>G (p.His97Arg) rs2091705296
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys) rs2148388971
NM_000033.4(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs) rs2148388986
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro) rs1603231848
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg) rs398123110
NM_000033.4(ABCD1):c.422C>T (p.Ala141Val) rs1603231911
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp) rs1557052362
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) rs1569540693
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) rs1569540695
NM_000033.4(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser) rs1557052390
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp) rs1603232195
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu) rs2091711722
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del) rs387906496
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) rs1603232243
NM_000033.4(ABCD1):c.893G>A (p.Gly298Asp) rs868911300
NM_000033.4(ABCD1):c.900G>A (p.Glu300=) rs1569540743
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter) rs941503814

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