List of variants reported as pathogenic for Dystonia 27

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg)	rs182976977	0.00064
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His)	rs552651651	0.00025
NM_004369.4(COL6A3):c.8966-1G>C	rs767517186	0.00004
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)	rs398124119	0.00003
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr)	rs786205870	0.00003
NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His)	rs541928674	0.00001
NM_004369.4(COL6A3):c.5992C>T (p.Arg1998Ter)

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