ClinVar Miner

List of variants studied for Autosomal recessive DOPA responsive dystonia by GeneReviews

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001

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