ClinVar Miner

List of variants in gene ABCD1 reported as uncertain significance by GeneDx

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Total variants: 13
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HGVS dbSNP
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser) rs375019683
NM_000033.4(ABCD1):c.1114_1116AAG[1] (p.Lys373del) rs782627940
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys) rs781983308
NM_000033.4(ABCD1):c.146C>A (p.Pro49His) rs1557052213
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029
NM_000033.4(ABCD1):c.1790C>G (p.Ala597Gly) rs782065134
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys) rs782376163
NM_000033.4(ABCD1):c.225_245del (p.Leu76_Leu82del) rs1064794778
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg) rs201979180
NM_000033.4(ABCD1):c.367G>A (p.Val123Ile) rs1009106172
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134
NM_000033.4(ABCD1):c.757C>T (p.Leu253Phe) rs150151955
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val) rs781970988

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