ClinVar Miner

List of variants studied for Autosomal recessive DOPA responsive dystonia by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 5
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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.91-868C>T rs148235227 0.00012
NM_000360.4(TH):c.110G>A (p.Arg37His) rs368122376 0.00005
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000360.4(TH):c.818A>C (p.Glu273Ala) rs1846110049

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