ClinVar Miner

List of variants in gene ABCD1 reported as pathogenic by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 3
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HGVS dbSNP
NM_000033.3(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.3(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.3(ABCD1):c.796G>A (p.Gly266Arg) rs128624218

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