ClinVar Miner

List of variants reported as pathogenic for spastic ataxia

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 249
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_016035.5(COQ4):c.376G>A (p.Glu126Lys) rs149398860 0.00030
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn) rs550136320 0.00014
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg) rs142046798 0.00009
NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys) rs374978891 0.00007
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_016035.5(COQ4):c.202+4A>C rs777821562 0.00003
NM_016035.5(COQ4):c.304C>T (p.Arg102Cys) rs371984550 0.00003
NM_016035.5(COQ4):c.370G>A (p.Gly124Ser) rs776825296 0.00003
NM_016035.5(COQ4):c.473G>A (p.Arg158Gln) rs779805523 0.00003
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter) rs773969315 0.00003
NM_003560.4(PLA2G6):c.209G>A (p.Arg70Gln) rs11570607 0.00002
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_016035.5(COQ4):c.533G>A (p.Gly178Glu) rs754865584 0.00002
NM_000153.4(GALC):c.673G>A (p.Ala225Thr) rs1436074042 0.00001
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) rs72555372 0.00001
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) rs74315473 0.00001
NM_001166114.2(PNPLA6):c.2182C>A (p.Gln728Lys) rs889723987 0.00001
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter) rs397509404 0.00001
NM_006612.6(KIF1C):c.505C>T (p.Arg169Trp) rs587777198 0.00001
NM_006612.6(KIF1C):c.527C>T (p.Pro176Leu) rs772475828 0.00001
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val) rs912546325 0.00001
NM_006796.3(AFG3L2):c.1847A>G (p.Tyr616Cys) rs387906889 0.00001
NM_006796.3(AFG3L2):c.202C>T (p.Arg68Ter) rs543422544 0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) rs774906736 0.00001
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter) rs769212398 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 0.00001
NM_014363.6(SACS):c.3066del (p.Asn1025fs) rs1057516767 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter) rs755824618 0.00001
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) rs761089024 0.00001
NM_014363.6(SACS):c.562G>A (p.Gly188Arg) rs780184251 0.00001
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) rs773182375 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_016035.5(COQ4):c.305G>A (p.Arg102His) rs929713295 0.00001
NM_018109.4(MTPAP):c.1432A>G (p.Asn478Asp) rs267606900 0.00001
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp) rs1391712320 0.00001
NM_181503.3(EXOSC8):c.269C>G (p.Ser90Ter) rs749829526 0.00001
MARS2, DUP2
NC_000017.10:g.(4907452_4914761)_(4918508_4926045)del
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000702.4(ATP1A2):c.2285-2A>C rs2101995423
NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys) rs2131462357
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001166114.2(PNPLA6):c.43dup (p.Ala15fs) rs1568403627
NM_001368809.2(AMPD2):c.808del (p.Arg270fs) rs2101160657
NM_001458.5(FLNC):c.5385dup (p.Gly1796fs) rs2128938102
NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu) rs754304255
NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr) rs1131040
NM_002109.6(HARS1):c.730delG rs1581505917
NM_002109.6(HARS1):c.910_912dup (p.Leu305dup) rs1581504953
NM_002617.4(PEX10):c.496del (p.Val166fs) rs770937339
NM_003119.4(SPG7):c.1861C>T (p.Gln621Ter) rs769258044
NM_003119.4(SPG7):c.1990_1992del (p.Gln664del) rs1597665063
NM_004820.5(CYP7B1):c.806del (p.Asp269fs) rs2129630194
NM_006612.6(KIF1C):c.1019+1dup rs2143323595
NM_006612.6(KIF1C):c.1396_1397del (p.Glu466fs)
NM_006612.6(KIF1C):c.183G>A (p.Ser61=) rs886041035
NM_006612.6(KIF1C):c.2191C>T (p.Arg731Ter) rs587777197
NM_006612.6(KIF1C):c.238del (p.Glu80fs)
NM_006612.6(KIF1C):c.2478del (p.Ala828fs) rs1131690773
NM_006612.6(KIF1C):c.328C>T (p.Arg110Ter)
NM_006612.6(KIF1C):c.445A>T (p.Ile149Phe) rs2143312682
NM_006612.6(KIF1C):c.601_604del (p.Lys201fs) rs2143313439
NM_006612.6(KIF1C):c.726_727insCC (p.Lys243fs) rs2143317762
NM_006612.6(KIF1C):c.765del (p.Asp256fs) rs2143317920
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)
NM_006796.3(AFG3L2):c.1858C>A (p.Gln620Lys) rs1907907851
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) rs727502823
NM_006796.3(AFG3L2):c.1901_1902del (p.Val633_Ser634insTer) rs1907906060
NM_006796.3(AFG3L2):c.245dup (p.Asn82fs)
NM_006796.3(AFG3L2):c.634dup (p.Val212fs) rs2143196334
NM_006796.3(AFG3L2):c.916A>G (p.Lys306Glu) rs1908569446
NM_007236.5(CHP1):c.52AAG[1] (p.Lys19del) rs1310569366
NM_014231.5(VAMP1):c.340+2T>G rs878854975
NM_014363.6(SACS):c.10444_10447del (p.Leu3482fs)
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs) rs786204416
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter) rs755186798
NM_014363.6(SACS):c.10634_10635del (p.Val3545fs) rs2137573354
NM_014363.6(SACS):c.10644del (p.Phe3548fs) rs1555250160
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs) rs779338945
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter) rs1360298758
NM_014363.6(SACS):c.10932dup (p.Leu3645fs) rs2137570842
NM_014363.6(SACS):c.10938_10941del (p.Lys3646fs)
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.11601_11604del (p.Lys3867fs)
NM_014363.6(SACS):c.11637_11638del (p.Arg3879fs) rs1593121924
NM_014363.6(SACS):c.1185_1194del (p.Cys395fs) rs2137724246
NM_014363.6(SACS):c.1189dup (p.Ser397fs)
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter) rs781491486
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter) rs1593121484
NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro) rs2137561906
NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter) rs2137561134
NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro) rs137853016
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) rs141315518
NM_014363.6(SACS):c.12268C>A (p.His4090Asn) rs2137559913
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.12529dup (p.Tyr4177fs)
NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter) rs2137557832
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) rs1555249555
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs) rs1555249425
NM_014363.6(SACS):c.12839del (p.Phe4280fs) rs1197238841
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) rs786204628
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.13017C>A (p.Asp4339Glu)
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter) rs747868017
NM_014363.6(SACS):c.13176C>G (p.Tyr4392Ter) rs1285760809
NM_014363.6(SACS):c.13319C>A (p.Ser4440Ter)
NM_014363.6(SACS):c.13527dup (p.Glu4510fs) rs797045936
NM_014363.6(SACS):c.1358del (p.Gly453fs) rs2137722808
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) rs923921184
NM_014363.6(SACS):c.1769_1770del (p.Val590fs) rs1383333220
NM_014363.6(SACS):c.1919_1920del (p.His640fs) rs797045937
NM_014363.6(SACS):c.1925del (p.Gly642fs) rs2137717323
NM_014363.6(SACS):c.2060del (p.Asp687fs) rs2137716138
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter) rs1057517285
NM_014363.6(SACS):c.237dup (p.Ser80fs) rs770311689
NM_014363.6(SACS):c.2387del (p.Leu796fs)
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_014363.6(SACS):c.2656C>T (p.Gln886Ter)
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter) rs1593133395
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) rs1259615333
NM_014363.6(SACS):c.2938_2939del (p.Met980fs) rs1593133306
NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser) rs137853019
NM_014363.6(SACS):c.3281dup (p.Asn1094fs) rs2137636957
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) rs770866403
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter) rs144267558
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter) rs1246013998
NM_014363.6(SACS):c.3585del (p.Ile1195fs) rs2137634136
NM_014363.6(SACS):c.382_383del (p.Glu128fs) rs757179309
NM_014363.6(SACS):c.4033dup (p.Gln1345fs) rs606231163
NM_014363.6(SACS):c.4060C>T (p.Gln1354Ter)
NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile) rs1566069517
NM_014363.6(SACS):c.4108C>T (p.Gln1370Ter)
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter) rs199474695
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.4233_4236del (p.Leu1412fs)
NM_014363.6(SACS):c.429_430del (p.Trp144fs)
NM_014363.6(SACS):c.4568G>A (p.Trp1523Ter)
NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter) rs1555252345
NM_014363.6(SACS):c.4645G>T (p.Glu1549Ter)
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_014363.6(SACS):c.4718T>G (p.Met1573Arg) rs2137625077
NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro) rs764992284
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs) rs765361868
NM_014363.6(SACS):c.4835dup (p.Phe1614fs) rs2137624079
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter) rs770901638
NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5151del (p.Lys1717fs) rs754439135
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.5263_5264del (p.Lys1755fs) rs199474696
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter) rs1868872666
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs) rs1566067485
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) rs1485209013
NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp) rs2137616027
NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs) rs2137615500
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs) rs773754134
NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter) rs761655321
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.6186dup (p.Pro2063fs) rs2137611917
NM_014363.6(SACS):c.6290del (p.Cys2097fs) rs1868755540
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs) rs1555251822
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) rs766711286
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter) rs770490672
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln) rs1868700605
NM_014363.6(SACS):c.6663del (p.Lys2221fs) rs1555251699
NM_014363.6(SACS):c.6837dup (p.Glu2280fs) rs748765057
NM_014363.6(SACS):c.6894_6897del (p.Lys2298_Glu2299insTer)
NM_014363.6(SACS):c.699del (p.Asp235fs) rs1415870785
NM_014363.6(SACS):c.7106C>T (p.Pro2369Leu)
NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter) rs1555251553
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7255_7259del (p.Glu2419fs)
NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro) rs771583552
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.7641dup (p.Glu2548fs) rs876657720
NM_014363.6(SACS):c.8132C>A (p.Ser2711Ter) rs1213203489
NM_014363.6(SACS):c.815G>A (p.Arg272His) rs745907077
NM_014363.6(SACS):c.8227del (p.His2743fs) rs2137593965
NM_014363.6(SACS):c.8239dup (p.Ile2747fs)
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
NM_014363.6(SACS):c.832C>T (p.Gln278Ter) rs1555254439
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs) rs876657721
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs) rs753012964
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.9144del (p.Thr3050fs)
NM_014363.6(SACS):c.914_915del (p.Thr305fs) rs2137726985
NM_014363.6(SACS):c.9272_9275del (p.Ser3091fs)
NM_014363.6(SACS):c.9311del (p.Thr3104fs)
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) rs1060503431
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518
NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs) rs1555250557
NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg) rs137853018
NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter) rs2137580127
NM_016035.5(COQ4):c.23_33del (p.Val8fs) rs886041549
NM_016035.5(COQ4):c.284G>A (p.Gly95Asp) rs779568890
NM_016035.5(COQ4):c.402+1G>C rs747779231
NM_016035.5(COQ4):c.433C>T (p.Arg145Cys)
NM_016035.5(COQ4):c.434G>A (p.Arg145His)
NM_016035.5(COQ4):c.577C>T (p.Pro193Ser) rs568200779
NM_016035.5(COQ4):c.719G>A (p.Arg240His)
NM_016035.5(COQ4):c.745C>T (p.Arg249Trp)
NM_016035.5(COQ4):c.87dup (p.Arg30Ter)
NM_016417.3(GLRX5):c.148AAG[1] (p.Lys51del) rs869320757
NM_016417.3(GLRX5):c.197A>C (p.Gln66Pro) rs2139646713
NM_016417.3(GLRX5):c.86_93dup (p.Ala32fs) rs869320758
NM_018122.5(DARS2):c.233del (p.Asn78fs) rs2102636056
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_031448.6(C19orf12):c.403dup (p.Ala135fs) rs2145621443
NM_032756.4(HPDL):c.147C>A (p.Ser49Arg)
NM_032756.4(HPDL):c.[832G>A;91T>C]
NM_138395.4(MARS2):c.2_*1dup (p.Met1_Ter594=)
NM_138395.4(MARS2):c.682_949del (p.Gly228fs) rs1553608221
NM_177400.3(NKX6-2):c.119del (p.Phe40fs) rs2134707158
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter) rs1131692047
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048
NM_177400.3(NKX6-2):c.516C>G (p.Tyr172Ter) rs2134706418
NM_177400.3(NKX6-2):c.565G>T (p.Glu189Ter) rs776560015
NM_177400.3(NKX6-2):c.571C>T (p.Gln191Ter) rs2134706311
NM_177400.3(NKX6-2):c.589C>T (p.Gln197Ter) rs1565019976
NM_177400.3(NKX6-2):c.598C>T (p.Arg200Trp) rs770310729
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln) rs1008088032
NM_177400.3(NKX6-2):c.606delinsTA (p.Lys202fs) rs1565019932
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter) rs1565019928
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter) rs2154331501
Single allele

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