List of variants reported as uncertain significance for combined dystonia by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys)	rs150785666	0.00050
NM_015488.5(PNKD):c.237-16514T>A	rs776565425	0.00026
NM_003919.3(SGCE):c.776A>T (p.Asp259Val)	rs1799567842
NM_015488.5(PNKD):c.1115T>C (p.Leu372Pro)	rs1694789383
NM_015488.5(PNKD):c.733G>T (p.Gly245Cys)	rs769143232
NM_145239.3(PRRT2):c.524T>C (p.Val175Ala)	rs1162557576
NM_145239.3(PRRT2):c.674A>G (p.Glu225Gly)	rs1057518890
NM_145239.3(PRRT2):c.910G>A (p.Asp304Asn)	rs1900136723
NM_145239.3(PRRT2):c.988G>A (p.Ala330Thr)	rs757132796
NM_152296.5(ATP1A3):c.124T>C (p.Cys42Arg)	rs2075305399
NM_152296.5(ATP1A3):c.2419-14C>T	rs2075089174
NM_152296.5(ATP1A3):c.2835C>A (p.Ile945=)	rs2075059472

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