ClinVar Miner

List of variants reported as pathogenic for TH-deficient dopa-responsive dystonia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):

Autosomal recessive DOPA responsive dystonia

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.605G>A (p.Arg202His)	rs80338892	0.00014
NM_000360.4(TH):c.364C>T (p.Arg122Ter)	rs771610752	0.00002
NM_000360.4(TH):c.1141C>A (p.Gln381Lys)	rs121917762	0.00001

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