ClinVar Miner

List of variants in gene ABCD1 reported as likely pathogenic for ABCD1-related condition

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Total variants: 8
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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.1937C>T (p.Ala646Val) rs1258368672 0.00001
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro) rs2148399307
NM_000033.4(ABCD1):c.331G>A (p.Val111Met)
NM_000033.4(ABCD1):c.509C>T (p.Ala170Val)
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.901-5C>A rs782603062

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