ClinVar Miner

List of variants reported as benign for Autosomal recessive DOPA responsive dystonia by Natera, Inc.

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Total variants: 18
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HGVS dbSNP gnomAD frequency
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.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.1200+9C>T rs11564717 0.01045
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
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.627C>G (p.Ile209Met) rs202149985 0.00027
NM_000360.4(TH):c.1368C>T (p.Ser456=) rs45538536 0.00023
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000 0.00017
NM_000360.4(TH):c.91-828C>T rs764689284 0.00011
NM_000360.4(TH):c.313-9C>T rs538345855 0.00004
NM_000360.4(TH):c.66C>T (p.Asp22=) rs377073512 0.00003

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