ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive cerebellar ataxia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 131
Download table as spreadsheet
HGVS dbSNP
NM_001204831.2(ANO10):c.-140G>A rs886058485
NM_006946.3(SPTBN2):c.2162G>A (p.Arg721His) rs200016211
NM_006946.3(SPTBN2):c.3430C>T (p.Arg1144Ter) rs1402216317
NM_006946.3(SPTBN2):c.3431G>A (p.Arg1144Gln) rs558572111
NM_006946.3(SPTBN2):c.4985+12G>A rs199692345
NM_006946.3(SPTBN2):c.968A>G (p.Gln323Arg) rs190532690
NM_018075.5(ANO10):c.*179C>T rs111871863
NM_018075.5(ANO10):c.*368C>T rs114561351
NM_018075.5(ANO10):c.*372G>T rs145489333
NM_018075.5(ANO10):c.*438A>T rs376644560
NM_018075.5(ANO10):c.*447G>A rs112787589
NM_018075.5(ANO10):c.*452A>G rs886058476
NM_018075.5(ANO10):c.*464C>T rs886058475
NM_018075.5(ANO10):c.*74dup rs556549778
NM_018075.5(ANO10):c.*82G>A rs560234921
NM_018075.5(ANO10):c.*91G>A rs776954907
NM_018075.5(ANO10):c.-102C>A rs886058484
NM_018075.5(ANO10):c.-31G>C rs533146042
NM_018075.5(ANO10):c.-67C>T rs563565187
NM_018075.5(ANO10):c.-74C>T rs886058482
NM_018075.5(ANO10):c.-83T>C rs760135054
NM_018075.5(ANO10):c.-95del rs886058483
NM_018075.5(ANO10):c.1012G>A (p.Asp338Asn) rs187425614
NM_018075.5(ANO10):c.1133G>A (p.Arg378Gln) rs61732728
NM_018075.5(ANO10):c.1218+4A>T rs886058479
NM_018075.5(ANO10):c.1294-3del rs778730043
NM_018075.5(ANO10):c.1339A>T (p.Met447Leu) rs745940196
NM_018075.5(ANO10):c.1416A>C (p.Ala472=) rs886058478
NM_018075.5(ANO10):c.1559C>T (p.Ala520Val) rs150026260
NM_018075.5(ANO10):c.1595C>T (p.Ser532Leu) rs886058477
NM_018075.5(ANO10):c.1628G>A (p.Arg543His) rs372086237
NM_018075.5(ANO10):c.1669-8T>G rs115769245
NM_018075.5(ANO10):c.1683G>C (p.Thr561=) rs141040660
NM_018075.5(ANO10):c.1817A>G (p.Lys606Arg) rs761659935
NM_018075.5(ANO10):c.1864A>G (p.Met622Val) rs141806947
NM_018075.5(ANO10):c.192A>G (p.Leu64=) rs146432615
NM_018075.5(ANO10):c.338-11T>C rs774494441
NM_018075.5(ANO10):c.632A>G (p.Tyr211Cys) rs886058480
NM_018075.5(ANO10):c.676G>A (p.Ala226Thr) rs188443010
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520
NM_018319.3(TDP1):c.-275C>G rs886050881
NM_018319.3(TDP1):c.-278C>T rs886050880
NM_018319.3(TDP1):c.-292G>T rs577403021
NM_018319.4(TDP1):c.*1015G>A rs374734859
NM_018319.4(TDP1):c.*1203G>T rs531417402
NM_018319.4(TDP1):c.*1355G>A rs755484553
NM_018319.4(TDP1):c.*264G>T rs779122283
NM_018319.4(TDP1):c.*774G>A rs372910082
NM_018319.4(TDP1):c.*776T>C rs761481355
NM_018319.4(TDP1):c.*904C>T rs886050884
NM_018319.4(TDP1):c.*945C>T rs540904390
NM_018319.4(TDP1):c.-232A>C rs886050882
NM_018319.4(TDP1):c.-55C>G rs751280891
NM_018319.4(TDP1):c.-76T>C rs886050883
NM_018319.4(TDP1):c.1317+11G>A rs36009827
NM_018319.4(TDP1):c.1342C>T (p.Arg448Trp) rs141725364
NM_018319.4(TDP1):c.1343G>A (p.Arg448Gln) rs144746398
NM_018319.4(TDP1):c.1366+10G>A rs200295380
NM_018319.4(TDP1):c.15C>T (p.Gly5=) rs779666160
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala) rs35973343
NM_018319.4(TDP1):c.1747A>G (p.Ser583Gly) rs201355368
NM_018319.4(TDP1):c.1799C>T (p.Thr600Met) rs772139596
NM_018319.4(TDP1):c.19T>C (p.Tyr7His) rs754747710
NM_018319.4(TDP1):c.716A>G (p.His239Arg) rs750038981
NM_018319.4(TDP1):c.789C>T (p.His263=) rs562317662
NM_018319.4(TDP1):c.884+5G>A rs370991229
NM_018319.4(TDP1):c.885-15T>C rs375601290
NM_020247.4(COQ8A):c.-137C>A rs557786445
NM_020247.5(COQ8A):c.*150C>T rs755137919
NM_020247.5(COQ8A):c.*184G>C rs548257684
NM_020247.5(COQ8A):c.*22C>T rs374941896
NM_020247.5(COQ8A):c.*252A>C rs886046070
NM_020247.5(COQ8A):c.*326C>G rs886046071
NM_020247.5(COQ8A):c.*349G>A rs113041399
NM_020247.5(COQ8A):c.*425G>T rs552968994
NM_020247.5(COQ8A):c.*570T>C rs778729725
NM_020247.5(COQ8A):c.*612C>T rs747804729
NM_020247.5(COQ8A):c.*613G>A rs537646948
NM_020247.5(COQ8A):c.*631C>G rs886046073
NM_020247.5(COQ8A):c.*693G>T rs886046074
NM_020247.5(COQ8A):c.*727C>T rs16846762
NM_020247.5(COQ8A):c.*761G>A rs145779574
NM_020247.5(COQ8A):c.-113A>G rs886046063
NM_020247.5(COQ8A):c.-75C>T rs886046064
NM_020247.5(COQ8A):c.1060G>A (p.Glu354Lys) rs886046066
NM_020247.5(COQ8A):c.1163-10C>T rs886046067
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094
NM_020247.5(COQ8A):c.1256+11C>G rs564593360
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn) rs147097934
NM_020247.5(COQ8A):c.1398+12C>A rs774158999
NM_020247.5(COQ8A):c.1399-13G>A rs73087649
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=) rs141423403
NM_020247.5(COQ8A):c.1679T>C (p.Leu560Ser) rs886046068
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) rs762900727
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=) rs886046069
NM_020247.5(COQ8A):c.1800C>T (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=) rs774789966
NM_020247.5(COQ8A):c.258A>C (p.Ala86=) rs137872711
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228
NM_020247.5(COQ8A):c.358G>A (p.Val120Met) rs376347405
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg) rs760566419
NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys) rs181579601
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709
NM_020247.5(COQ8A):c.687G>A (p.Leu229=) rs752409331
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020247.5(COQ8A):c.719A>C (p.Glu240Ala) rs886046065
NM_020247.5(COQ8A):c.798G>A (p.Thr266=) rs750042754
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527
NM_021830.5(TWNK):c.*234T>G rs886046633
NM_021830.5(TWNK):c.*438G>C rs886046634
NM_021830.5(TWNK):c.*555G>A rs886046635
NM_021830.5(TWNK):c.*574C>T rs886046636
NM_021830.5(TWNK):c.*619G>A rs886046637
NM_021830.5(TWNK):c.*709C>G rs41291470
NM_021830.5(TWNK):c.*747C>G rs886046638
NM_021830.5(TWNK):c.*763T>C rs886046639
NM_021830.5(TWNK):c.*803A>G rs886046640
NM_021830.5(TWNK):c.-105T>C rs886046629
NM_021830.5(TWNK):c.-423C>T rs886046627
NM_021830.5(TWNK):c.-470G>A rs886046626
NM_021830.5(TWNK):c.-549G>A rs886046625
NM_021830.5(TWNK):c.-585T>G rs886046624
NM_021830.5(TWNK):c.-644A>T rs886046623
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108
NM_021830.5(TWNK):c.274G>A (p.Gly92Ser) rs886046630
NM_021830.5(TWNK):c.276C>T (p.Gly92=) rs886046631
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.