List of variants reported as uncertain significance for Dystonia 12 by Illumina Laboratory Services, Illumina

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_152296.5(ATP1A3):c.-148T>G	rs769525784	0.00026
NM_152296.5(ATP1A3):c.607-7C>A	rs782819736	0.00009
NM_152296.4(ATP1A3):c.-186G>A	rs886054478	0.00006
NM_152296.5(ATP1A3):c.*13C>A	rs781878302	0.00006
NM_152296.5(ATP1A3):c.-64A>G	rs373531937	0.00006
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=)	rs141362710	0.00006
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys)	rs782229302	0.00006
NM_152296.5(ATP1A3):c.*298C>T	rs781980860	0.00003
NM_152296.5(ATP1A3):c.3013+12C>T	rs782424595	0.00003
NM_152296.5(ATP1A3):c.2819+3G>A	rs782555113	0.00002
NM_152296.5(ATP1A3):c.1303-15C>A	rs782749835	0.00001
NM_152296.5(ATP1A3):c.2009A>G (p.Glu670Gly)	rs2075172328	0.00001
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=)	rs886054473	0.00001
NM_152296.5(ATP1A3):c.2418+9T>A	rs950336124	0.00001
NM_152296.5(ATP1A3):c.936C>A (p.Ile312=)	rs782140994	0.00001
NM_152296.5(ATP1A3):c.*206T>C	rs1197209551
NM_152296.5(ATP1A3):c.*280T>A	rs886054472
NM_152296.5(ATP1A3):c.*99C>G	rs1555858636
NM_152296.5(ATP1A3):c.-130GACG[3]	rs879996553
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=)	rs782312004
NM_152296.5(ATP1A3):c.15A>G (p.Lys5=)	rs886054476
NM_152296.5(ATP1A3):c.1719C>A (p.Leu573=)	rs886054474
NM_152296.5(ATP1A3):c.1806+12G>C	rs1555862070
NM_152296.5(ATP1A3):c.2136C>T (p.Ser712=)	rs2075159123
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=)	rs782539594
NM_152296.5(ATP1A3):c.607-3C>T	rs886054475
NM_152296.5(ATP1A3):c.725-6C>T	rs782647558

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