ClinVar Miner

List of variants studied for Autosomal recessive DOPA responsive dystonia by SingHealth Duke-NUS Institute of Precision Medicine

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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.714_715del (p.Leu239fs) rs1564918287

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