ClinVar Miner

List of variants reported as likely pathogenic for TH-deficient dopa-responsive dystonia by Baylor Genetics

Included ClinVar conditions (2):

Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
Segawa syndrome, autosomal recessive

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Total variants: 2

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HGVS	dbSNP
NM_000360.4(TH):c.1035_1045del (p.Gln346fs)
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)	rs771351747

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