List of variants reported as benign for TH-deficient dopa-responsive dystonia by Illumina Laboratory Services, Illumina

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000207.3(INS):c.187+11T>C	rs5506	0.93263
NM_000207.3(INS):c.-17-6T>A	rs689	0.59334
NM_000207.3(INS):c.*22A>C	rs3842753	0.59307
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_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.1035G>T (p.Ala345=)	rs11826260	0.01611
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.313-9C>T	rs538345855	0.00004
NM_000360.4(TH):c.66C>T (p.Asp22=)	rs377073512	0.00003

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