ClinVar Miner

List of variants in gene ABCD1 reported as likely pathogenic by Eurofins NTD LLC (GA)

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1201C>G (p.Arg401Gly) rs727503786
NM_000033.4(ABCD1):c.1586G>A (p.Gly529Asp) rs398123103
NM_000033.4(ABCD1):c.1660C>A (p.Arg554Ser) rs398123104
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu) rs398123113
NM_000033.4(ABCD1):c.662A>C (p.Asp221Ala) rs1569540711
NM_000033.4(ABCD1):c.886T>C (p.Tyr296His) rs797044611
NM_000033.4(ABCD1):c.887A>C (p.Tyr296Ser) rs797044610

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