ClinVar Miner

List of variants reported as likely pathogenic for TH-deficient dopa-responsive dystonia by Baylor Genetics

Included ClinVar conditions (1):
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ClinVar version:
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) rs2495800851
NM_000360.4(TH):c.1066dup (p.Leu356fs) rs2495796661
NM_000360.4(TH):c.1105-1G>A rs2133690469
NM_000360.4(TH):c.1125del (p.Glu375fs) rs2133690407
NM_000360.4(TH):c.1141C>T (p.Gln381Ter) rs121917762
NM_000360.4(TH):c.1147G>A (p.Gly383Arg) rs370962049
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.1267C>T (p.Gln423Ter) rs2495789407
NM_000360.4(TH):c.1273C>T (p.Gln425Ter) rs2495789345
NM_000360.4(TH):c.1334+1G>A rs781411638
NM_000360.4(TH):c.192del (p.Asp66fs) rs1846202659
NM_000360.4(TH):c.446_447del (p.Arg149fs) rs2495820510
NM_000360.4(TH):c.531_541del (p.His178fs) rs2495817598
NM_000360.4(TH):c.583del (p.Ser195fs) rs1846146030
NM_000360.4(TH):c.589C>T (p.Gln197Ter) rs2495815951
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.695+1G>C rs2495811622
NM_000360.4(TH):c.696-1G>A rs2495807056
NM_000360.4(TH):c.696-2A>G rs1554923121
NM_000360.4(TH):c.708del (p.Val235_Tyr236insTer) rs2495806930
NM_000360.4(TH):c.711del (p.Thr238fs) rs2495806867
NM_000360.4(TH):c.789_795dup (p.Glu266fs) rs2495805517
NM_000360.4(TH):c.820_823del (p.Asp274fs) rs1476695915
NM_000360.4(TH):c.841+1G>A rs2133693369
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 rs2495830952
NM_000360.4(TH):c.91-860G>T rs2495836407
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000360.4(TH):c.934C>T (p.Gln312Ter) rs1337159250
NM_000360.4(TH):c.956C>A (p.Ser319Ter) rs2495802684
NM_000360.4(TH):c.977+1G>A rs1057516736
NM_000360.4(TH):c.978-1_1019del rs1169314384
NM_000360.4(TH):c.978-2A>G rs2495801552

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