ClinVar Miner

List of variants reported as likely pathogenic for cerebellar ataxia by Baylor Genetics

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 294
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850 0.00010
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00006
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_018319.4(TDP1):c.910C>T (p.Arg304Ter) rs370121773 0.00003
NM_000370.3(TTPA):c.205-2A>G rs758349851 0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_001173990.3(TMEM216):c.35-2A>G rs1057517528 0.00002
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter) rs1398584213 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_001173990.3(TMEM216):c.191del (p.Leu64fs) rs1858737558 0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456 0.00001
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498 0.00001
NM_001173990.3(TMEM216):c.87G>A (p.Trp29Ter) rs1304320833 0.00001
NM_001329943.3(KIAA0586):c.4324-1G>A rs753649082 0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.11624G>A (p.Arg3875His) rs863224916 0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.1869del (p.Arg624fs) rs1006060877 0.00001
NM_014363.6(SACS):c.3745C>T (p.Gln1249Ter) rs1027429746 0.00001
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter) rs946368716 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu) rs1213203489 0.00001
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter) rs1896432430 0.00001
NM_000370.3(TTPA):c.13C>T (p.Arg5Ter) rs1008240677
NM_000370.3(TTPA):c.173C>A (p.Ala58Asp) rs1805742556
NM_000370.3(TTPA):c.182del (p.Phe61fs) rs1805742175
NM_000370.3(TTPA):c.19C>T (p.Gln7Ter) rs1351036862
NM_000370.3(TTPA):c.19del (p.Gln7fs) rs760014795
NM_000370.3(TTPA):c.204+1G>T
NM_000370.3(TTPA):c.214_215delinsC (p.Asn72fs)
NM_000370.3(TTPA):c.223A>T (p.Lys75Ter)
NM_000370.3(TTPA):c.302_309del (p.His101fs)
NM_000370.3(TTPA):c.358+2T>C
NM_000370.3(TTPA):c.358+2T>G
NM_000370.3(TTPA):c.381dup (p.Thr128fs)
NM_000370.3(TTPA):c.451del (p.Arg151fs)
NM_000370.3(TTPA):c.489del (p.Trp163fs)
NM_000370.3(TTPA):c.588del (p.Leu196_Ile197insTer)
NM_000370.3(TTPA):c.74del (p.Gln25fs)
NM_000370.3(TTPA):c.80del (p.Gly27fs)
NM_000370.3(TTPA):c.84_91dup (p.Leu31fs) rs1805745954
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs) rs1575206357
NM_000784.4(CYP27A1):c.1017+1del rs1559392904
NM_000784.4(CYP27A1):c.1018-1G>C rs1575206658
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs) rs1575206688
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
NM_000784.4(CYP27A1):c.1146_1151delinsAAGCT (p.His382fs)
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1193del (p.Pro398fs)
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1239dup (p.Asp414Ter) rs2105981099
NM_000784.4(CYP27A1):c.1333del (p.Gln445fs)
NM_000784.4(CYP27A1):c.1374del (p.Arg459fs) rs751969035
NM_000784.4(CYP27A1):c.1374dup (p.Arg459fs)
NM_000784.4(CYP27A1):c.1453G>T (p.Glu485Ter)
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
NM_000784.4(CYP27A1):c.1472dup (p.Arg492fs)
NM_000784.4(CYP27A1):c.1477-1G>A
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) rs374507635
NM_000784.4(CYP27A1):c.160C>T (p.Gln54Ter)
NM_000784.4(CYP27A1):c.20del (p.Ala7fs)
NM_000784.4(CYP27A1):c.389T>A (p.Met130Lys)
NM_000784.4(CYP27A1):c.38del (p.Leu13fs)
NM_000784.4(CYP27A1):c.395del (p.Leu132fs)
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg) rs587778795
NM_000784.4(CYP27A1):c.447-1G>A rs2105979879
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
NM_000784.4(CYP27A1):c.473dup (p.Gln159fs)
NM_000784.4(CYP27A1):c.522T>A (p.Tyr174Ter)
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.608_614del (p.Ser203fs)
NM_000784.4(CYP27A1):c.646+1G>T
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) rs755532803
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
NM_000784.4(CYP27A1):c.845-1G>C
NM_000784.4(CYP27A1):c.845-46_881del
NM_000784.4(CYP27A1):c.858del (p.Ile286fs)
NM_000784.4(CYP27A1):c.953del (p.Gly318fs)
NM_000784.4(CYP27A1):c.985_994del (p.Leu329fs)
NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn) rs782596945
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs) rs1555755878
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
NM_001173990.3(TMEM216):c.137-2A>G rs1858735439
NM_001173990.3(TMEM216):c.193_194delinsA (p.Leu65fs)
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.222_224delinsA (p.Phe76fs)
NM_001173990.3(TMEM216):c.229+1G>A rs2135191306
NM_001173990.3(TMEM216):c.229+1G>C
NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)
NM_001173990.3(TMEM216):c.34+1G>A
NM_001173990.3(TMEM216):c.35-13_36del rs1057520085
NM_001173990.3(TMEM216):c.67del (p.Leu23fs) rs1565088283
NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378969.1(KCND3):c.1138G>T (p.Gly380Trp)
NM_001379286.1(ZNF423):c.2555G>A (p.Gly852Glu) rs1596759273
NM_001386140.1(MTTP):c.502-2A>G rs1725410386
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val) rs1940772032
NM_006946.4(SPTBN2):c.4496A>T (p.Asp1499Val) rs1940755126
NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile) rs1941829953
NM_014363.6(SACS):c.10055_10056del (p.Thr3352fs)
NM_014363.6(SACS):c.10069_10070del (p.Ser3357fs)
NM_014363.6(SACS):c.10222_10223del (p.Lys3408fs)
NM_014363.6(SACS):c.10536_10537del (p.Glu3512fs)
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter) rs1593123432
NM_014363.6(SACS):c.10574delinsAATA (p.Leu3525Ter)
NM_014363.6(SACS):c.10645G>T (p.Glu3549Ter)
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter) rs1057517002
NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)
NM_014363.6(SACS):c.10916del (p.Leu3639fs)
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter) rs1156566314
NM_014363.6(SACS):c.10944_10947dup (p.Leu3650fs)
NM_014363.6(SACS):c.11109del (p.Cys3704fs) rs2137569412
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer) rs2137569225
NM_014363.6(SACS):c.11191del (p.Glu3731fs)
NM_014363.6(SACS):c.11286_11287del (p.Asp3762fs)
NM_014363.6(SACS):c.11302del (p.Thr3768fs)
NM_014363.6(SACS):c.11361dup (p.Arg3788fs)
NM_014363.6(SACS):c.11373dup (p.Arg3792fs) rs1555249904
NM_014363.6(SACS):c.1139_1143del (p.Glu380fs)
NM_014363.6(SACS):c.11406_11409del (p.Trp3803fs)
NM_014363.6(SACS):c.11428G>T (p.Glu3810Ter)
NM_014363.6(SACS):c.1162C>T (p.Gln388Ter)
NM_014363.6(SACS):c.11724C>G (p.Tyr3908Ter) rs745740932
NM_014363.6(SACS):c.11946del (p.Asp3983fs)
NM_014363.6(SACS):c.12147C>A (p.Cys4049Ter)
NM_014363.6(SACS):c.12177del (p.Gly4061fs)
NM_014363.6(SACS):c.1229T>A (p.Leu410Ter)
NM_014363.6(SACS):c.12373G>T (p.Gly4125Ter)
NM_014363.6(SACS):c.12378C>A (p.Cys4126Ter)
NM_014363.6(SACS):c.12454G>T (p.Glu4152Ter)
NM_014363.6(SACS):c.12471dup (p.Thr4158fs)
NM_014363.6(SACS):c.12523_12541del (p.Val4175fs)
NM_014363.6(SACS):c.12707_12708del (p.Ile4236fs)
NM_014363.6(SACS):c.12770_12917del (p.Ser4257fs)
NM_014363.6(SACS):c.12795_12798del (p.Thr4266fs)
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs) rs1555249425
NM_014363.6(SACS):c.12860del (p.Lys4287fs)
NM_014363.6(SACS):c.12890del (p.Lys4297fs)
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.13112dup (p.Asn4371fs)
NM_014363.6(SACS):c.13252_13253del (p.Glu4418fs) rs1883405453
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter) rs1057517123
NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)
NM_014363.6(SACS):c.13352T>C (p.Leu4451Pro)
NM_014363.6(SACS):c.13354dup (p.Arg4452fs)
NM_014363.6(SACS):c.13433dup (p.Tyr4478Ter)
NM_014363.6(SACS):c.13543C>T (p.Gln4515Ter)
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) rs1555249106
NM_014363.6(SACS):c.1379_1395delinsG (p.Leu460fs)
NM_014363.6(SACS):c.1415_1421del (p.Asp472fs)
NM_014363.6(SACS):c.1535C>G (p.Ser512Ter)
NM_014363.6(SACS):c.155G>A (p.Trp52Ter)
NM_014363.6(SACS):c.171+1G>A
NM_014363.6(SACS):c.172-2A>G
NM_014363.6(SACS):c.1807A>T (p.Lys603Ter)
NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)
NM_014363.6(SACS):c.1965_1966del (p.Leu655_Ser656insTer)
NM_014363.6(SACS):c.2176C>T (p.Gln726Ter)
NM_014363.6(SACS):c.2189_2190delinsT (p.Arg730fs)
NM_014363.6(SACS):c.2291G>A (p.Trp764Ter)
NM_014363.6(SACS):c.2396_2399dup (p.Met800fs)
NM_014363.6(SACS):c.239C>G (p.Ser80Ter)
NM_014363.6(SACS):c.23G>A (p.Trp8Ter) rs1871684539
NM_014363.6(SACS):c.2503C>T (p.Gln835Ter)
NM_014363.6(SACS):c.2533C>T (p.Gln845Ter) rs1555252876
NM_014363.6(SACS):c.257del (p.Gly86fs)
NM_014363.6(SACS):c.2620del (p.Ser874fs)
NM_014363.6(SACS):c.2630T>A (p.Leu877Ter)
NM_014363.6(SACS):c.2755del (p.Arg919fs) rs2137641201
NM_014363.6(SACS):c.2886_2887del (p.Ser963fs) rs1326359185
NM_014363.6(SACS):c.2987T>G (p.Leu996Ter) rs1450257625
NM_014363.6(SACS):c.29del (p.Pro10fs) rs1057516837
NM_014363.6(SACS):c.3094del (p.Glu1032fs)
NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter)
NM_014363.6(SACS):c.3218dup (p.Pro1075fs)
NM_014363.6(SACS):c.3356del (p.Pro1119fs) rs1057517039
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter) rs1246013998
NM_014363.6(SACS):c.34_38del (p.Thr12fs)
NM_014363.6(SACS):c.351_354del (p.Leu117fs)
NM_014363.6(SACS):c.3557del (p.Met1186fs)
NM_014363.6(SACS):c.3684dup (p.Lys1229Ter)
NM_014363.6(SACS):c.382_383del (p.Glu128fs) rs757179309
NM_014363.6(SACS):c.388A>T (p.Lys130Ter)
NM_014363.6(SACS):c.3946C>T (p.Gln1316Ter)
NM_014363.6(SACS):c.4168del (p.Ile1391fs) rs1555252465
NM_014363.6(SACS):c.4424C>A (p.Ser1475Ter)
NM_014363.6(SACS):c.442_443del (p.Met148fs)
NM_014363.6(SACS):c.4438G>T (p.Glu1480Ter)
NM_014363.6(SACS):c.4521_4522del (p.Asn1508fs)
NM_014363.6(SACS):c.457+1del
NM_014363.6(SACS):c.466_469del (p.Leu156fs)
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_014363.6(SACS):c.4716del (p.Ile1572_Met1573insTer)
NM_014363.6(SACS):c.4760A>G (p.His1587Arg)
NM_014363.6(SACS):c.4762_4763del (p.Ile1588fs)
NM_014363.6(SACS):c.4783_4787del (p.Lys1595fs)
NM_014363.6(SACS):c.4811G>A (p.Trp1604Ter)
NM_014363.6(SACS):c.4847del (p.Asn1616fs)
NM_014363.6(SACS):c.4884del (p.Gln1628fs)
NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer) rs1057516580
NM_014363.6(SACS):c.499G>T (p.Glu167Ter)
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs) rs1372213267
NM_014363.6(SACS):c.5195del (p.Val1731_Leu1732insTer)
NM_014363.6(SACS):c.5379del (p.Phe1793fs) rs1057517297
NM_014363.6(SACS):c.5402C>G (p.Ser1801Ter)
NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs)
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs) rs1566067485
NM_014363.6(SACS):c.5515A>T (p.Arg1839Ter)
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs) rs1555252086
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs) rs1593129673
NM_014363.6(SACS):c.5809dup (p.Leu1937fs)
NM_014363.6(SACS):c.604+1_604+4del
NM_014363.6(SACS):c.6045_6049del (p.Tyr2015_Lys2017delinsTer)
NM_014363.6(SACS):c.6186dup (p.Pro2063fs) rs2137611917
NM_014363.6(SACS):c.6282del (p.Thr2095fs) rs1555251853
NM_014363.6(SACS):c.6366del (p.Lys2122fs)
NM_014363.6(SACS):c.6538dup (p.Ala2180fs)
NM_014363.6(SACS):c.654del (p.Gln219fs)
NM_014363.6(SACS):c.6623del (p.Ala2208fs) rs1181477970
NM_014363.6(SACS):c.6866_6867del (p.Thr2289fs)
NM_014363.6(SACS):c.699del (p.Asp235fs) rs1415870785
NM_014363.6(SACS):c.7080_7084del (p.His2362fs) rs1294102415
NM_014363.6(SACS):c.708del (p.Asp236fs)
NM_014363.6(SACS):c.7114dup (p.Tyr2372fs) rs1057517222
NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter) rs2137602382
NM_014363.6(SACS):c.7317_7321del (p.Lys2440fs)
NM_014363.6(SACS):c.7366del (p.Thr2456fs)
NM_014363.6(SACS):c.7499dup (p.Arg2502fs)
NM_014363.6(SACS):c.7788del (p.Phe2596fs) rs1057516959
NM_014363.6(SACS):c.7820_7821del (p.Leu2607fs)
NM_014363.6(SACS):c.7903del (p.Cys2635fs) rs1028098148
NM_014363.6(SACS):c.7962T>A (p.Tyr2654Ter)
NM_014363.6(SACS):c.7968del (p.Ala2658fs)
NM_014363.6(SACS):c.8070del (p.Phe2690fs)
NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter)
NM_014363.6(SACS):c.8107C>T (p.Arg2703Cys) rs780332615
NM_014363.6(SACS):c.8148del (p.Pro2717fs)
NM_014363.6(SACS):c.815G>A (p.Arg272His) rs745907077
NM_014363.6(SACS):c.8340del (p.His2781fs) rs753958013
NM_014363.6(SACS):c.8374_8375del (p.Arg2792fs)
NM_014363.6(SACS):c.8404_8407del (p.Ile2802fs)
NM_014363.6(SACS):c.8574_8577del (p.His2859fs) rs1555250991
NM_014363.6(SACS):c.8589dup (p.Pro2864fs) rs1555250987
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.8807del (p.Gly2936fs)
NM_014363.6(SACS):c.8917_8918del (p.Asp2973fs)
NM_014363.6(SACS):c.896_898delinsCT (p.Phe299fs)
NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter)
NM_014363.6(SACS):c.9119del (p.Asn3040fs)
NM_014363.6(SACS):c.9148del (p.Thr3050fs)
NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)
NM_014363.6(SACS):c.9266del (p.Pro3089fs)
NM_014363.6(SACS):c.9376del (p.Asn3125_Leu3126insTer)
NM_014363.6(SACS):c.9390_9391del (p.His3130fs) rs1057517349
NM_014363.6(SACS):c.9580_9587delinsC (p.Lys3195fs)
NM_014363.6(SACS):c.9611_9615del (p.Lys3204fs)
NM_014363.6(SACS):c.9660dup (p.Val3221fs)
NM_014363.6(SACS):c.9663_9664del (p.Leu3222fs)
NM_014363.6(SACS):c.9762del (p.Ser3254_Val3255insTer)
NM_014363.6(SACS):c.9833G>A (p.Trp3278Ter)
NM_014363.6(SACS):c.9851del (p.Thr3284fs)
NM_014363.6(SACS):c.9879del (p.Val3294fs) rs2137580025
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs) rs772704931
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly) rs797045068
NM_015215.4(CAMTA1):c.2235C>A (p.Tyr745Ter)
NM_015215.4(CAMTA1):c.4674C>G (p.Tyr1558Ter) rs2096866859
NM_015378.4(VPS13D):c.1183C>T (p.Arg395Ter) rs752359125
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter) rs1566306570
NM_016529.6(ATP8A2):c.3469+1G>C rs763272441
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter) rs201618750
NM_020247.5(COQ8A):c.638_645del (p.Arg213fs) rs886042265
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_144992.5(VWA3B):c.1191T>G (p.Tyr397Ter) rs546662496
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) rs398122887
NM_152617.4(RNF168):c.559-1_560del
NM_182961.4(SYNE1):c.18866C>A (p.Ser6289Ter)
NM_182961.4(SYNE1):c.19839del (p.Ile6615fs)

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