ClinVar Miner

List of variants in gene ABCD1 reported as uncertain significance by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp) rs782760033 0.00002
NM_000033.4(ABCD1):c.1635-3C>G rs2148397866
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1991+68_1992-4del rs1603236039
NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro) rs1603236086
NM_000033.4(ABCD1):c.431C>T (p.Ala144Val)
NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys) rs1569540705
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243

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