ClinVar Miner

List of variants reported as uncertain significance for combined dystonia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_003690.5(PRKRA):c.*313G>A rs3997879 0.22352
NM_003690.5(PRKRA):c.*158A>G rs3997877 0.22348
NM_003690.5(PRKRA):c.*553A>G rs3997881 0.21501
NM_003690.5(PRKRA):c.*655T>C rs4533501 0.06663
NM_003690.5(PRKRA):c.-104G>A rs545506202 0.00168
NM_003690.5(PRKRA):c.-124C>A rs186454714 0.00060
NM_003690.5(PRKRA):c.-125G>A rs190533045 0.00060
NM_015488.5(PNKD):c.*155C>T rs753020574 0.00054
NM_003919.2(SGCE):c.-84T>C rs747133401 0.00052
NM_003690.5(PRKRA):c.-64C>G rs576729883 0.00041
NM_015488.5(PNKD):c.*1490G>A rs971155594 0.00041
NM_006516.4(SLC2A1):c.*1337A>C rs113441673 0.00038
NM_003919.2(SGCE):c.-97G>A rs529057223 0.00037
NM_003690.5(PRKRA):c.*79G>A rs9678530 0.00036
NM_003919.3(SGCE):c.*172T>C rs112954947 0.00033
NM_003690.5(PRKRA):c.*151A>T rs886055203 0.00026
NM_152296.5(ATP1A3):c.-148T>G rs769525784 0.00026
NM_003690.5(PRKRA):c.*265A>C rs886055201 0.00021
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr) rs5811 0.00013
NM_006516.4(SLC2A1):c.*1016A>G rs886046334 0.00012
NM_015488.5(PNKD):c.*1118T>A rs762512024 0.00012
NM_015488.5(PNKD):c.*868T>C rs998136972 0.00011
NM_006516.4(SLC2A1):c.*587A>T rs748209315 0.00010
NM_015488.5(PNKD):c.*826G>T rs772338538 0.00010
NM_003690.5(PRKRA):c.-65C>G rs557426364 0.00009
NM_006516.4(SLC2A1):c.*651G>T rs886046337 0.00009
NM_006516.4(SLC2A1):c.*784A>G rs886046335 0.00009
NM_152296.5(ATP1A3):c.607-7C>A rs782819736 0.00009
NM_006516.4(SLC2A1):c.*560T>C rs545613558 0.00007
NM_006516.4(SLC2A1):c.*609G>C rs1020397288 0.00007
NM_003690.5(PRKRA):c.54T>C (p.Ser18=) rs1235471739 0.00006
NM_003690.5(PRKRA):c.796G>A (p.Ala266Thr) rs148050153 0.00006
NM_006516.4(SLC2A1):c.*750T>A rs886046336 0.00006
NM_006516.4(SLC2A1):c.18+12G>T rs587781171 0.00006
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_006516.4(SLC2A1):c.*368A>C rs946103123 0.00005
NM_006516.4(SLC2A1):c.*413G>A rs543194486 0.00005
NM_003919.3(SGCE):c.712G>C (p.Glu238Gln) rs200035109 0.00004
NM_006516.4(SLC2A1):c.-129G>T rs936174986 0.00004
NM_006516.4(SLC2A1):c.-192G>C rs886046342 0.00004
NM_006516.4(SLC2A1):c.-194G>A rs984267596 0.00004
NM_003690.5(PRKRA):c.654G>A (p.Leu218=) rs763093482 0.00003
NM_003690.5(PRKRA):c.784+15T>C rs367606024 0.00003
NM_003919.3(SGCE):c.471G>A (p.Pro157=) rs747531940 0.00003
NM_006516.4(SLC2A1):c.*1149C>A rs779668330 0.00003
NM_006516.4(SLC2A1):c.*1246G>A rs886046330 0.00003
NM_006516.4(SLC2A1):c.*1281A>G rs1057515458 0.00003
NM_006516.4(SLC2A1):c.*597G>A rs886046338 0.00003
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met) rs577667739 0.00003
NM_015488.5(PNKD):c.*206C>T rs886055622 0.00003
NM_015488.5(PNKD):c.302G>A (p.Arg101Gln) rs368934552 0.00003
NM_015488.5(PNKD):c.37C>T (p.Arg13Trp) rs886055619 0.00003
NM_152296.5(ATP1A3):c.*298C>T rs781980860 0.00003
NM_152296.5(ATP1A3):c.3013+12C>T rs782424595 0.00003
NM_006516.4(SLC2A1):c.*514G>T rs886046339 0.00002
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser) rs765479065 0.00002
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) rs397514564 0.00002
NM_015488.4(PNKD):c.-79C>A rs886055618 0.00002
NM_015488.5(PNKD):c.*1216G>A rs999439159 0.00002
NM_015488.5(PNKD):c.*253C>T rs1456301565 0.00002
NM_015488.5(PNKD):c.1130G>A (p.Arg377Gln) rs148141539 0.00002
NM_015488.5(PNKD):c.341G>A (p.Arg114His) rs781140528 0.00002
NM_015488.5(PNKD):c.597C>T (p.Asp199=) rs139122042 0.00002
NM_152296.5(ATP1A3):c.2819+3G>A rs782555113 0.00002
NM_003690.5(PRKRA):c.-117C>T rs886055204 0.00001
NM_003690.5(PRKRA):c.-141C>A rs1395280729 0.00001
NM_003690.5(PRKRA):c.80T>C (p.Ile27Thr) rs780703241 0.00001
NM_003919.3(SGCE):c.19T>C (p.Trp7Arg) rs1271444866 0.00001
NM_006516.4(SLC2A1):c.*107G>A rs1643432524 0.00001
NM_006516.4(SLC2A1):c.*1205C>T rs886046331 0.00001
NM_006516.4(SLC2A1):c.*1321T>A rs1222650517 0.00001
NM_006516.4(SLC2A1):c.*775A>G rs779010320 0.00001
NM_006516.4(SLC2A1):c.1062G>A (p.Ala354=) rs748983257 0.00001
NM_006516.4(SLC2A1):c.332G>T (p.Gly111Val) rs1399284513 0.00001
NM_015488.5(PNKD):c.*1476A>G rs886055623 0.00001
NM_015488.5(PNKD):c.*1569C>T rs1694830978 0.00001
NM_015488.5(PNKD):c.*838C>T rs560187472 0.00001
NM_015488.5(PNKD):c.476A>T (p.Glu159Val) rs758928375 0.00001
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_003690.5(PRKRA):c.*180C>T rs886055202
NM_003690.5(PRKRA):c.*576G>A rs1696648689
NM_003690.5(PRKRA):c.-11C>T rs767401214
NM_003690.5(PRKRA):c.-133C>G rs80197731
NM_003690.5(PRKRA):c.-14C>T rs181793341
NM_003690.5(PRKRA):c.870C>T (p.Ser290=) rs537898766
NM_003919.3(SGCE):c.1065C>T (p.Asp355=) rs886062520
NM_003919.3(SGCE):c.450_452del (p.Ile150del) rs886062522
NM_003919.3(SGCE):c.536T>C (p.Val179Ala) rs886062521
NM_003919.3(SGCE):c.55G>A (p.Gly19Ser) rs767335346
NM_006516.4(SLC2A1):c.*1079T>G rs1426402573
NM_006516.4(SLC2A1):c.*1081T>A rs886046333
NM_006516.4(SLC2A1):c.*1147G>C rs886046332
NM_006516.4(SLC2A1):c.*1337A>G rs113441673
NM_006516.4(SLC2A1):c.*1564C>T rs1057515570
NM_006516.4(SLC2A1):c.*1611T>C rs1057515457
NM_006516.4(SLC2A1):c.*216C>T rs1643431578
NM_006516.4(SLC2A1):c.*92G>A rs1266657991
NM_006516.4(SLC2A1):c.-202G>C rs1016572946
NM_006516.4(SLC2A1):c.132C>T (p.Tyr44=) rs886046341
NM_006516.4(SLC2A1):c.218C>T (p.Ser73Phe) rs1643484697
NM_006516.4(SLC2A1):c.279G>A (p.Arg93=) rs1392755923
NM_006516.4(SLC2A1):c.411A>G (p.Thr137=) rs753500924
NM_015488.4(PNKD):c.-65G>A rs570619432
NM_015488.5(PNKD):c.*1305A>G rs1694825559
NM_015488.5(PNKD):c.*212G>A rs989494170
NM_015488.5(PNKD):c.*679C>T rs1694809581
NM_015488.5(PNKD):c.2T>G (p.Met1Arg) rs775653461
NM_015488.5(PNKD):c.368C>T (p.Pro123Leu) rs1694626257
NM_015488.5(PNKD):c.628C>A (p.His210Asn) rs886055620
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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