List of variants reported as likely pathogenic for dystonic disorder by SIB Swiss Institute of Bioinformatics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001135651.3(EIF2AK2):c.388G>A (p.Gly130Arg)	rs2148705154
NM_001135651.3(EIF2AK2):c.388G>C (p.Gly130Arg)	rs2148705154
NM_014727.3(KMT2B):c.1633C>T (p.Arg545Ter)	rs1057519279
NM_014727.3(KMT2B):c.1690C>T (p.Arg564Ter)	rs1057519283
NM_014727.3(KMT2B):c.2428C>T (p.Gln810Ter)	rs1057519281
NM_014727.3(KMT2B):c.4545C>A (p.Tyr1515Ter)	rs1057519284

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