ClinVar Miner

List of variants in gene ABCD1 reported as uncertain significance by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg) rs201979180 0.00008
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134 0.00005
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu) rs200849757 0.00001
NM_000033.4(ABCD1):c.1585G>A (p.Gly529Ser) rs2148397619
NM_000033.4(ABCD1):c.497T>C (p.Leu166Pro) rs2148389301
NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys) rs1557052478

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