List of variants reported as pathogenic for combined dystonia by Baylor Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)	rs121434410	0.00009
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter)	rs121908490	0.00001
NM_006516.4(SLC2A1):c.19-2A>G	rs796053272
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)	rs794729221
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter)	rs77838305
NM_145239.3(PRRT2):c.649del (p.Arg217fs)	rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)	rs1064797245
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)	rs387907281
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys)	rs80356533

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