ClinVar Miner

List of variants in gene ABCD1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.2006_2007dup (p.Leu670fs) rs797044625
NM_000033.4(ABCD1):c.518T>C (p.Leu173Pro) rs2148389338
NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys) rs2091708150
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
NM_000033.4(ABCD1):c.900G>C (p.Glu300Asp) rs1569540743

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