ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive DOPA responsive dystonia by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.614T>C (p.Leu205Pro)	rs121917763	0.00001
NM_000360.4(TH):c.1282C>T (p.Gln428Ter)	rs786204540

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