ClinVar Miner

List of variants reported as benign for Autosomal recessive DOPA responsive dystonia

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_000360.4(TH):c.695+99G>A rs7925924 0.91244
NM_000360.4(TH):c.696-126C>G rs7942881 0.91226
NM_000360.4(TH):c.1105-78A>G rs6578990 0.90803
NM_000360.4(TH):c.91-54A>G rs7925375 0.68900
NM_000360.4(TH):c.577-22C>T rs4074905 0.62210
NM_000207.3(INS):c.-17-6T>A rs689 0.59334
NM_000207.3(INS):c.*22A>C rs3842753 0.59307
NC_000011.10:g.2172367C>T rs10770140 0.58545
NC_000011.10:g.2172610A>G rs10770141 0.56453
NM_000360.4(TH):c.1334+127T>C rs2070762 0.42406
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_000360.4(TH):c.977+8C>G rs12419447 0.27597
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357 0.23916
NM_000360.4(TH):c.313-88G>A rs4930043 0.22682
NM_000360.4(TH):c.312+289G>C rs7482510 0.17720
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740 0.07357
NM_000360.4(TH):c.210T>C (p.Ala70=) rs7950050 0.03941
NM_000360.4(TH):c.186G>A (p.Ser62=) rs34510659 0.02696
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724 0.02616
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260 0.01611
NM_000360.4(TH):c.645-74A>T rs73403741 0.01330
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848 0.01234
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_000360.4(TH):c.487+3G>A rs11042950 0.00795
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_000360.4(TH):c.579C>T (p.Gly193=) rs147852210 0.00547
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_000360.4(TH):c.1105-14C>T rs200496790 0.00101
NM_000360.4(TH):c.627C>G (p.Ile209Met) rs202149985 0.00027
NM_000360.4(TH):c.1368C>T (p.Ser456=) rs45538536 0.00023
NM_000360.4(TH):c.1047+16G>A rs372706117 0.00017
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000 0.00017
NM_000360.4(TH):c.576+13C>T rs369163325 0.00016
NM_000360.4(TH):c.91-828C>T rs764689284 0.00011
NM_000360.4(TH):c.51C>T (p.Ala17=) rs199645400 0.00009
NM_000360.4(TH):c.252G>A (p.Leu84=) rs758016812 0.00007
NM_000360.4(TH):c.264G>A (p.Pro88=) rs113140700 0.00004
NM_000360.4(TH):c.313-9C>T rs538345855 0.00004
NM_000360.4(TH):c.66C>T (p.Asp22=) rs377073512 0.00003
NM_000360.4(TH):c.1048-110A>C rs4072823
NM_000360.4(TH):c.576+16dup rs1238963534
NM_000360.4(TH):c.644+15C>A rs191712999
NM_000360.4(TH):c.644+15C>T rs191712999
NM_000360.4(TH):c.644+8dup
NM_000360.4(TH):c.696-138G>A rs7925784

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