ClinVar Miner

List of variants in gene CYP27A1 reported as likely pathogenic for Regression of motor development with severe dystonia and corresponding basal ganglia lesions

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Total variants: 1
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HGVS dbSNP
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199

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