ClinVar Miner

List of variants reported as likely benign for Autosomal recessive DOPA responsive dystonia by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.1200+9C>T	rs11564717	0.01045
NM_000360.4(TH):c.684G>A (p.Glu228=)	rs11564716	0.00706
NM_000360.4(TH):c.267G>A (p.Arg89=)	rs76240471	0.00359

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