ClinVar Miner

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

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.293_295dup (p.Arg98_Ala99insGly)	rs1590170978
NM_000360.4(TH):c.628G>A (p.Ala210Thr)	rs1260455415
NM_000360.4(TH):c.724C>T (p.Leu242Phe)	rs1457094087
NM_000360.4(TH):c.815T>G (p.Leu272Arg)	rs775410637

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