ClinVar Miner

List of variants studied for Autosomal recessive cerebellar ataxia

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Total variants: 213
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HGVS dbSNP
NM_001204831.2(ANO10):c.-140G>A rs886058485
NM_006946.3(SPTBN2):c.1722G>A (p.Glu574=) rs143083152
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.*196C>A rs73831274
NM_018075.5(ANO10):c.*246A>G rs73831273
NM_018075.5(ANO10):c.*368C>T rs114561351
NM_018075.5(ANO10):c.*372G>T rs145489333
NM_018075.5(ANO10):c.*432G>T rs17075612
NM_018075.5(ANO10):c.*438A>T rs376644560
NM_018075.5(ANO10):c.*444C>T rs114518528
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.-90C>T rs565644253
NM_018075.5(ANO10):c.-95del rs886058483
NM_018075.5(ANO10):c.1012G>A (p.Asp338Asn) rs187425614
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778
NM_018075.5(ANO10):c.1133G>A (p.Arg378Gln) rs61732728
NM_018075.5(ANO10):c.1218+4A>T rs886058479
NM_018075.5(ANO10):c.1293+9A>G rs7616708
NM_018075.5(ANO10):c.1294-3del rs778730043
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.1339A>T (p.Met447Leu) rs745940196
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165
NM_018075.5(ANO10):c.1416A>C (p.Ala472=) rs886058478
NM_018075.5(ANO10):c.1477-14G>A rs78884042
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.1682C>T (p.Thr561Met) rs17409162
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.486C>T (p.Leu162=) rs34829628
NM_018075.5(ANO10):c.627T>C (p.Ala209=) rs61742945
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.74A>C (p.Gln25Pro) rs112040665
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520
NM_018319.3(TDP1):c.-275C>G rs886050881
NM_018319.3(TDP1):c.-276_-274dupCCG rs35210768
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.*1448G>A rs34004710
NM_018319.4(TDP1):c.*1452C>T rs34923595
NM_018319.4(TDP1):c.*1460C>G rs35944390
NM_018319.4(TDP1):c.*264G>T rs779122283
NM_018319.4(TDP1):c.*393T>C rs7150480
NM_018319.4(TDP1):c.*539G>A rs35090050
NM_018319.4(TDP1):c.*608del rs397897279
NM_018319.4(TDP1):c.*774G>A rs372910082
NM_018319.4(TDP1):c.*776T>C rs761481355
NM_018319.4(TDP1):c.*77C>T rs9488
NM_018319.4(TDP1):c.*799A>G rs35437984
NM_018319.4(TDP1):c.*89_*90dup rs397721425
NM_018319.4(TDP1):c.*904C>T rs886050884
NM_018319.4(TDP1):c.*945C>T rs540904390
NM_018319.4(TDP1):c.-177C>T rs35132667
NM_018319.4(TDP1):c.-21C>T rs34348197
NM_018319.4(TDP1):c.-224A>G rs35439694
NM_018319.4(TDP1):c.-230-14C>A rs28365055
NM_018319.4(TDP1):c.-230-4G>T rs28365053
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.1077A>G (p.Pro359=) rs17126522
NM_018319.4(TDP1):c.1098A>G (p.Gln366=) rs34563565
NM_018319.4(TDP1):c.1107T>C (p.Asn369=) rs10151377
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.291A>G (p.Gln97=) rs3825663
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu) rs35455108
NM_018319.4(TDP1):c.400G>A (p.Ala134Thr) rs28365054
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_018319.4(TDP1):c.911G>A (p.Arg304Gln) rs34452707
NM_020247.4(COQ8A):c.*807_*808insT rs3215920
NM_020247.4(COQ8A):c.*815C>T rs10495274
NM_020247.4(COQ8A):c.-137C>A rs557786445
NM_020247.5(COQ8A):c.*133G>A rs149820067
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.*230G>A rs117808661
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.*389dup rs11420839
NM_020247.5(COQ8A):c.*425G>T rs552968994
NM_020247.5(COQ8A):c.*464G>A rs8159
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.*681G>A rs10482
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.*790A>G rs12565212
NM_020247.5(COQ8A):c.-10+8T>C rs145688619
NM_020247.5(COQ8A):c.-113A>G rs886046063
NM_020247.5(COQ8A):c.-75C>T rs886046064
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233
NM_020247.5(COQ8A):c.1060G>A (p.Glu354Lys) rs886046066
NM_020247.5(COQ8A):c.1163-10C>T rs886046067
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708
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.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=) rs141423403
NM_020247.5(COQ8A):c.1660-9T>C rs7552783
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.1716T>C (p.Ser572=) rs3738725
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.1914C>T (p.Ser638=) rs56043893
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411
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_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129
NM_021830.5(TWNK):c.*204G>A rs61871507
NM_021830.5(TWNK):c.*234T>G rs886046633
NM_021830.5(TWNK):c.*301C>T rs41291468
NM_021830.5(TWNK):c.*367A>G rs62626296
NM_021830.5(TWNK):c.*419A>T rs187553791
NM_021830.5(TWNK):c.*438G>C rs886046634
NM_021830.5(TWNK):c.*455C>T rs148810959
NM_021830.5(TWNK):c.*472_*473GA[2] rs370783985
NM_021830.5(TWNK):c.*521C>G rs11542131
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.*766A>T rs3740488
NM_021830.5(TWNK):c.*803A>G rs886046640
NM_021830.5(TWNK):c.-105T>C rs886046629
NM_021830.5(TWNK):c.-241C>T rs113159821
NM_021830.5(TWNK):c.-290G>C rs62626270
NM_021830.5(TWNK):c.-306_-305GT[1] rs146265037
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.-605G>T rs3740484
NM_021830.5(TWNK):c.-644A>T rs886046623
NM_021830.5(TWNK):c.-650A>G rs187213541
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) rs200798080
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) rs549767223
NM_021830.5(TWNK):c.1527C>T (p.Asp509=) rs62626272
NM_021830.5(TWNK):c.1593-3T>C rs3740486
NM_021830.5(TWNK):c.1593-5C>T rs3740485
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810
NM_021830.5(TWNK):c.1735-14C>A rs201795189
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.2045G>A (p.Arg682His) rs182559752
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258
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.492C>T (p.Leu164=) rs775463083
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465
NM_033071.3(SYNE1):c.16177-2A>G

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