List of variants reported as likely pathogenic for Autosomal recessive DOPA responsive dystonia by Baylor Genetics

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Total variants: 47

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)	rs767635052	0.00004
NM_000360.4(TH):c.91-818G>A	rs753403788	0.00004
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)	rs771351747	0.00003
NM_000360.4(TH):c.90+13G>A	rs77140743	0.00003
NM_000360.4(TH):c.1061C>T (p.Ala354Val)	rs763039181	0.00002
NM_000360.4(TH):c.1189G>A (p.Gly397Arg)	rs1264884607	0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met)	rs45471299	0.00002
NM_000360.4(TH):c.644+1G>A	rs1266265578	0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg)	rs755536257	0.00002
NM_199292.3(TH):c.-71C>T	rs549435434	0.00002
NM_000360.4(TH):c.1141C>A (p.Gln381Lys)	rs121917762	0.00001
NC_000011.10:g.2171856C>T	rs1372180906
NM_000360.4(TH):c.1035_1045del (p.Gln346fs)	rs1590166832
NM_000360.4(TH):c.1036C>T (p.Gln346Ter)
NM_000360.4(TH):c.1066dup (p.Leu356fs)
NM_000360.4(TH):c.1105-1G>A
NM_000360.4(TH):c.1125del (p.Glu375fs)	rs2133690407
NM_000360.4(TH):c.1141C>T (p.Gln381Ter)
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)	rs575326605
NM_000360.4(TH):c.1267C>T (p.Gln423Ter)
NM_000360.4(TH):c.1273C>T (p.Gln425Ter)
NM_000360.4(TH):c.1334+1G>A
NM_000360.4(TH):c.192del (p.Asp66fs)
NM_000360.4(TH):c.446_447del (p.Arg149fs)
NM_000360.4(TH):c.531_541del (p.His178fs)
NM_000360.4(TH):c.583del (p.Ser195fs)
NM_000360.4(TH):c.589C>T (p.Gln197Ter)
NM_000360.4(TH):c.628G>A (p.Ala210Thr)	rs1260455415
NM_000360.4(TH):c.695+1G>C
NM_000360.4(TH):c.696-1G>A
NM_000360.4(TH):c.696-2A>G	rs1554923121
NM_000360.4(TH):c.708del (p.Val235_Tyr236insTer)
NM_000360.4(TH):c.711del (p.Thr238fs)
NM_000360.4(TH):c.789_795dup (p.Glu266fs)
NM_000360.4(TH):c.820_823del (p.Asp274fs)
NM_000360.4(TH):c.841+1G>A
NM_000360.4(TH):c.90+13G>T	rs77140743
NM_000360.4(TH):c.90+7dup	rs780485650
NM_000360.4(TH):c.91-1G>C
NM_000360.4(TH):c.91-860G>T
NM_000360.4(TH):c.917G>A (p.Arg306His)	rs28934580
NM_000360.4(TH):c.934C>T (p.Gln312Ter)
NM_000360.4(TH):c.956C>A (p.Ser319Ter)
NM_000360.4(TH):c.977+1G>A	rs1057516736
NM_000360.4(TH):c.978-1_1019del
NM_000360.4(TH):c.978-2A>G

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