ClinVar Miner

List of variants reported as pathogenic for Adrenoleukodystrophy by Baylor Genetics

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Total variants: 9
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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.1382del (p.Leu461fs)
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) rs201568579
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter) rs1057516052
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704

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