ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant cerebellar ataxia

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly) rs549394447 0.00331
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His) rs35027371 0.00016
NM_198994.3(TGM6):c.1024C>T (p.Arg342Trp) rs150566697 0.00010
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_002739.5(PRKCG):c.1381G>A (p.Ala461Thr) rs749266717 0.00004
NM_002739.5(PRKCG):c.419G>A (p.Arg140Gln) rs770016586 0.00003
NM_005861.4(STUB1):c.778dup (p.His260fs) rs780883873 0.00002
NM_006946.4(SPTBN2):c.5066G>A (p.Arg1689His) rs764884402 0.00002
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser) rs771145682 0.00001
NM_001080414.4(CCDC88C):c.1993G>A (p.Glu665Lys) rs956104232 0.00001
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile) rs1296629000 0.00001
NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp) rs2093873570 0.00001
NM_001378452.1(ITPR1):c.2843G>A (p.Gly948Glu) rs1443276640 0.00001
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu) rs1303074743 0.00001
NM_004977.3(KCNC3):c.1223A>G (p.Asp408Gly) rs2037067131 0.00001
NM_006392.4(NOP56):c.909G>A (p.Ala303=) rs1295942947 0.00001
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His) rs1598820860 0.00001
NM_018896.5(CACNA1G):c.481A>T (p.Ile161Phe) rs368561457 0.00001
NM_198994.3(TGM6):c.1005G>A (p.Trp335Ter) rs750743855 0.00001
NM_001020658.2(PUM1):c.1773del (p.Ser592fs) rs1640658015
NM_001020658.2(PUM1):c.3415C>T (p.Arg1139Trp) rs1557541619
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001020658.2(PUM1):c.46G>T (p.Asp16Tyr) rs1644321851
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg) rs1057518011
NM_001114748.2(TMEM240):c.419T>A (p.Leu140Gln) rs2100695149
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) rs2058057299
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met) rs374686479
NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser) rs2145004155
NM_001127222.2(CACNA1A):c.1870A>T (p.Ile624Phe) rs2145004096
NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del) rs2144980726
NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu) rs2144980363
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2345G>C (p.Arg782Pro) rs1233611505
NM_001127222.2(CACNA1A):c.2524_2551del (p.Glu842fs) rs2144956632
NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs) rs1555755878
NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu) rs2144833336
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr) rs2056767982
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro) rs2144773045
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn) rs2056767062
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) rs1555740805
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro) rs1568447650
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro) rs1057519429
NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr) rs2144647872
NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu) rs2144936093
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala) rs2144622461
NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter) rs2055612253
NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro) rs2144523407
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala) rs397509393
NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg) rs2038416963
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr) rs1599341718
NM_001130823.3(DNMT1):c.4641G>T (p.Glu1547Asp) rs2145253354
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly) rs2093873520
NM_001378452.1(ITPR1):c.1534G>A (p.Glu512Lys) rs2125193560
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met) rs1559718601
NM_001378452.1(ITPR1):c.4691T>C (p.Leu1564Pro) rs2125272771
NM_001378452.1(ITPR1):c.5616G>A (p.Met1872Ile) rs1002376493
NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys) rs2125159664
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu) rs2125159710
NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile) rs2125159718
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) rs1553757628
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_001378452.1(ITPR1):c.7784G>C (p.Gly2595Ala) rs869312685
NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro) rs2106494596
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378452.1(ITPR1):c.830G>T (p.Ser277Ile) rs863224882
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu) rs867628133
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg) rs1057521793
NM_001378969.1(KCND3):c.1129A>G (p.Thr377Ala)
NM_001378969.1(KCND3):c.1138G>T (p.Gly380Trp)
NM_001378969.1(KCND3):c.1291C>T (p.Arg431Cys) rs777183510
NM_001378969.1(KCND3):c.611C>T (p.Thr204Met) rs2101997230
NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys)
NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln) rs1674966041
NM_001378969.1(KCND3):c.905G>C (p.Arg302Pro) rs2101995572
NM_001378969.1(KCND3):c.911C>T (p.Ser304Phe) rs2101995530
NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg) rs2101995228
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3]) rs2138219961
NM_001961.4(EEF2):c.2314G>A (p.Glu772Lys) rs2145355764
NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser) rs797045900
NM_002739.5(PRKCG):c.1928T>G (p.Phe643Cys) rs386134172
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr) rs1555806333
NM_002739.5(PRKCG):c.220C>T (p.His74Tyr) rs2122976509
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr) rs1599938631
NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys) rs2122988484
NM_002739.5(PRKCG):c.347A>G (p.His116Arg) rs2068657131
NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe) rs2122988567
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg) rs386134164
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys) rs1599943097
NM_002739.5(PRKCG):c.380A>C (p.Gln127Pro) rs121918515
NM_002739.5(PRKCG):c.381G>T (p.Gln127His) rs973767996
NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro) rs2122988688
NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys) rs1304701232
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp) rs1471641294
NM_004115.4(FGF14):c.408+1G>A
NM_005861.4(STUB1):c.170C>T (p.Pro57Leu) rs2151504167
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser) rs690016544
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_005861.4(STUB1):c.525-1G>A rs2151505158
NM_005861.4(STUB1):c.646dup (p.Ser216fs) rs1555475283
NM_005861.4(STUB1):c.721C>T (p.Arg241Trp) rs760424025
NM_005861.4(STUB1):c.760C>G (p.Arg254Gly) rs770730338
NM_005861.4(STUB1):c.807dup (p.Val270fs) rs2151507049
NM_006133.3(DAGLA):c.2437_2446del (p.Leu813fs)
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg) rs1598832568
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) rs727502823
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr) rs797045221
NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro) rs541484241
NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del) rs1590955348
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr) rs1554986345
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp) rs1941669517
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_006946.4(SPTBN2):c.193A>C (p.Lys65Gln) rs2135526204
NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val) rs1940772032
NM_006946.4(SPTBN2):c.470T>C (p.Ile157Thr) rs875989881
NM_006946.4(SPTBN2):c.5974C>T (p.Gln1992Ter) rs2135319250
NM_006946.4(SPTBN2):c.6230C>T (p.Ala2077Val)
NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile) rs1941829953
NM_007289.4(MME):c.1095-2A>C rs2108312675
NM_015215.4(CAMTA1):c.1521_1528del (p.Met507fs)
NM_015215.4(CAMTA1):c.2235C>A (p.Tyr745Ter)
NM_015215.4(CAMTA1):c.2452G>T (p.Glu818Ter)
NM_015215.4(CAMTA1):c.2460C>A (p.Cys820Ter)
NM_015215.4(CAMTA1):c.2685G>A (p.Trp895Ter) rs2149221667
NM_015215.4(CAMTA1):c.2863C>T (p.Arg955Trp) rs1135401818
NM_015215.4(CAMTA1):c.3230A>G (p.Tyr1077Cys) rs863224853
NM_015215.4(CAMTA1):c.4231C>T (p.Arg1411Ter) rs886041635
NM_015215.4(CAMTA1):c.438+1G>A
NM_015215.4(CAMTA1):c.4418G>A (p.Ser1473Asn) rs776553769
NM_015215.4(CAMTA1):c.4674C>G (p.Tyr1558Ter) rs2096866859
NM_015215.4(CAMTA1):c.4744C>T (p.Arg1582Ter) rs2150160606
NM_015215.4(CAMTA1):c.4759C>T (p.Gln1587Ter) rs2150160765
NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter) rs1553280067
NM_015215.4(CAMTA1):c.800del (p.Ser267fs) rs1553238311
NM_018896.5(CACNA1G):c.2549C>T (p.Ala850Val)
NM_018896.5(CACNA1G):c.2810C>T (p.Ser937Leu) rs1250995341
NM_018896.5(CACNA1G):c.3792G>T (p.Arg1264Ser) rs200024646
NM_018896.5(CACNA1G):c.3835G>A (p.Asp1279Asn) rs2145795264
NM_018896.5(CACNA1G):c.4592T>C (p.Met1531Thr)
NM_018896.5(CACNA1G):c.4593G>A (p.Met1531Ile)
NM_018896.5(CACNA1G):c.4594T>C (p.Phe1532Leu) rs2145968180
NM_018896.5(CACNA1G):c.5960_5961delinsAC (p.Thr1987Asn) rs2146373286
NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro) rs2039524843
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr) rs1554162301
NM_024818.6(UBA5):c.542G>A (p.Cys181Tyr)
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter) rs374052333
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr) rs1135401822
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala) rs1599705281
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg) rs2145946065
NM_152296.5(ATP1A3):c.265G>T (p.Gly89Cys)
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) rs398122887
NM_152296.5(ATP1A3):c.460A>G (p.Met154Val) rs1135401821
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) rs864309572
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp) rs863224847
NM_173500.4(TTBK2):c.1675del (p.Gln559fs) rs2140757755
NM_173500.4(TTBK2):c.239T>A (p.Phe80Tyr) rs778218227
NM_173500.4(TTBK2):c.322C>T (p.Gln108Ter) rs2140986045
NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter) rs770444240
NM_198994.2(TGM6):c.425_435del11 rs1222726216
Single allele

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