ClinVar Miner

List of variants reported as likely pathogenic for adrenoleukodystrophy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000033.4(ABCD1):c.1202G>T (p.Arg401Leu)
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1367del (p.Arg456fs) rs2522289579
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val) rs2522297059
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.2135G>A (p.Arg712His) rs1557055447
NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp) rs2522264062
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del) rs1603231784
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
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.900+2T>C rs2091712381

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