List of variants studied for Dystonia 12 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys)	rs150785666	0.00050
NM_152296.5(ATP1A3):c.124T>C (p.Cys42Arg)	rs2075305399
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)	rs886041396
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2419-14C>T	rs2075089174
NM_152296.5(ATP1A3):c.2835C>A (p.Ile945=)	rs2075059472
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)	rs398122887

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