ClinVar Miner

List of variants in gene ABCD1 reported as likely pathogenic by GeneDx

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Total variants: 8
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HGVS dbSNP
NM_000033.3(ABCD1):c.1082-1G>A rs1557054153
NM_000033.3(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.3(ABCD1):c.2037G>A (p.Trp679Ter) rs1557055406
NM_000033.3(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.3(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.3(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.3(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.3(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954

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