List of variants reported as likely pathogenic for Autosomal recessive DOPA responsive dystonia by Revvity Omics, Revvity

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.1103C>T (p.Thr368Met)	rs1057520384	0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser)	rs762304556	0.00001
NM_000360.4(TH):c.850G>A (p.Gly284Ser)	rs1288483479	0.00001
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)	rs575326605
NM_000360.4(TH):c.392_395dup (p.Leu134fs)
NM_000360.4(TH):c.51del (p.Val18fs)
NM_000360.4(TH):c.779del (p.Arg260fs)

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