ClinVar Miner

List of variants studied for Autosomal recessive DOPA responsive dystonia by 3billion

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Total variants: 6
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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.1358G>A (p.Arg453His) rs759599321 0.00009
NM_000360.4(TH):c.1388C>T (p.Thr463Met) rs45471299 0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752 0.00002
NM_000360.4(TH):c.1300T>C (p.Ser434Pro) rs1367289835 0.00001
NM_000360.4(TH):c.1287_1290del (p.Val430fs)

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