ClinVar Miner

List of variants studied for Autosomal recessive DOPA responsive dystonia by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.1143G>T (p.Gln381His)
NM_000360.4(TH):c.1162T>C (p.Tyr388His) rs1846070989
NM_000360.4(TH):c.1378G>T (p.Asp460Tyr)
NM_000360.4(TH):c.1420del (p.Ala474fs)
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.920T>C (p.Val307Ala)

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