ClinVar Miner

List of variants studied for Charlevoix-Saguenay spastic ataxia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 262
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_000231.3(SGCG):c.*295T>C rs3829352 0.37163
NM_014363.6(SACS):c.*484T>C rs4770433 0.36808
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_000231.3(SGCG):c.*254G>A rs3751371 0.31172
NM_014363.6(SACS):c.-13A>G rs17078720 0.27905
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.21736
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13441
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_000231.3(SGCG):c.*13C>T rs9510701 0.05421
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020 0.03313
NM_014363.6(SACS):c.-531G>A rs73154650 0.02896
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595 0.02863
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_014363.6(SACS):c.-219A>G rs74495070 0.01003
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_014363.6(SACS):c.*916T>A rs75389729 0.00926
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) rs61742500 0.00776
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502 0.00775
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) rs61326562 0.00706
NM_014363.6(SACS):c.6069C>T (p.Asn2023=) rs35369023 0.00706
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_014363.6(SACS):c.5502G>C (p.Leu1834=) rs34389000 0.00705
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477 0.00688
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956 0.00688
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691 0.00562
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713 0.00513
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00451
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) rs113595574 0.00447
NM_014363.6(SACS):c.*821A>G rs145184122 0.00401
NM_014363.6(SACS):c.171+13C>T rs374672041 0.00347
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) rs80132141 0.00343
NM_014363.6(SACS):c.*625T>A rs186505479 0.00341
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_014363.6(SACS):c.-367C>A rs145469796 0.00245
NM_014363.6(SACS):c.-59C>A rs150561537 0.00242
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_014363.6(SACS):c.*777T>C rs77645021 0.00211
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123 0.00168
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814 0.00149
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124 0.00134
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972 0.00109
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu) rs143144795 0.00099
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00099
NM_014363.6(SACS):c.*1108G>A rs139956143 0.00098
NM_014363.6(SACS):c.-331A>C rs560626127 0.00092
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00087
NM_014363.6(SACS):c.-173C>A rs139517739 0.00085
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449 0.00071
NM_014363.6(SACS):c.13344C>T (p.Arg4448=) rs200157359 0.00061
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943 0.00056
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500 0.00043
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018 0.00040
NM_014363.6(SACS):c.*569G>A rs554938605 0.00039
NM_014363.6(SACS):c.*942A>G rs886050068 0.00037
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe) rs138413501 0.00036
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789 0.00032
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796 0.00030
NM_014363.6(SACS):c.*222T>C rs577703833 0.00029
NM_014363.6(SACS):c.12438G>A (p.Ser4146=) rs150959878 0.00026
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265 0.00024
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881 0.00022
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334 0.00021
NM_014363.6(SACS):c.7200T>C (p.Phe2400=) rs148544893 0.00020
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) rs201558584 0.00019
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00019
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) rs186301471 0.00019
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528 0.00019
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118 0.00017
NM_014363.6(SACS):c.3282C>T (p.Asn1094=) rs145499245 0.00017
NM_014363.6(SACS):c.*394G>A rs956360764 0.00016
NM_014363.6(SACS):c.12765G>A (p.Arg4255=) rs139692779 0.00016
NM_014363.6(SACS):c.1444C>G (p.Leu482Val) rs141487769 0.00016
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile) rs200991790 0.00015
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019 0.00015
NM_014363.6(SACS):c.*677C>T rs200375761 0.00014
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile) rs201569239 0.00013
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) rs377027736 0.00012
NM_014363.6(SACS):c.12647A>G (p.Asp4216Gly) rs550068559 0.00012
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822 0.00012
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647 0.00011
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800 0.00011
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235 0.00011
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) rs200517685 0.00010
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022 0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly) rs200333323 0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_014363.6(SACS):c.10909A>G (p.Met3637Val) rs150309559 0.00007
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505 0.00007
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688 0.00007
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225 0.00006
NM_014363.6(SACS):c.169G>C (p.Glu57Gln) rs1021024627 0.00006
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216 0.00006
NM_014363.6(SACS):c.2776A>G (p.Ile926Val) rs144362131 0.00006
NM_014363.6(SACS):c.2788A>G (p.Ile930Val) rs886050088 0.00006
NM_014363.6(SACS):c.954A>G (p.Leu318=) rs147412202 0.00006
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) rs143557803 0.00006
NM_014363.6(SACS):c.9903G>T (p.Leu3301=) rs563145604 0.00006
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) rs746953932 0.00005
NM_014363.6(SACS):c.447G>A (p.Ala149=) rs145681117 0.00005
NM_014363.6(SACS):c.7614A>C (p.Ala2538=) rs142697365 0.00005
NM_014363.6(SACS):c.*1200A>G rs558041482 0.00004
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val) rs199881455 0.00004
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr) rs145188410 0.00004
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386 0.00004
NM_014363.6(SACS):c.1259T>C (p.Ile420Thr) rs761791412 0.00004
NM_014363.6(SACS):c.151C>T (p.Leu51=) rs979224977 0.00004
NM_014363.6(SACS):c.1640C>T (p.Pro547Leu) rs140507581 0.00004
NM_014363.6(SACS):c.1791A>T (p.Ser597=) rs371175405 0.00004
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val) rs138245586 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) rs143477126 0.00004
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys) rs772611372 0.00004
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys) rs762896797 0.00004
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) rs377657177 0.00004
NM_014363.6(SACS):c.*882A>C rs886050069 0.00003
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) rs201752905 0.00003
NM_014363.6(SACS):c.345+14C>T rs538944334 0.00003
NM_014363.6(SACS):c.5169A>G (p.Ala1723=) rs200699984 0.00003
NM_014363.6(SACS):c.7101G>A (p.Ala2367=) rs764702321 0.00003
NM_014363.6(SACS):c.7497C>T (p.Val2499=) rs774558627 0.00003
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln) rs139670073 0.00003
NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala) rs201899988 0.00003
NM_014363.6(SACS):c.9887C>T (p.Pro3296Leu) rs779195622 0.00003
NM_014363.6(SACS):c.*218T>C rs907847986 0.00002
NM_014363.6(SACS):c.10485G>A (p.Glu3495=) rs757255802 0.00002
NM_014363.6(SACS):c.1608G>A (p.Pro536=) rs745730439 0.00002
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr) rs190383030 0.00002
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) rs201724656 0.00002
NM_014363.6(SACS):c.5466T>C (p.Thr1822=) rs757576348 0.00002
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) rs368624188 0.00002
NM_014363.6(SACS):c.7454A>T (p.His2485Leu) rs1420170258 0.00002
NM_014363.6(SACS):c.7988C>T (p.Pro2663Leu) rs377626385 0.00002
NM_014363.6(SACS):c.8958C>T (p.His2986=) rs758029668 0.00002
NM_014363.6(SACS):c.*307A>G rs576860445 0.00001
NM_014363.6(SACS):c.*461G>A rs1003496096 0.00001
NM_014363.6(SACS):c.*711A>G rs368233436 0.00001
NM_014363.6(SACS):c.-470C>T rs748973703 0.00001
NM_014363.6(SACS):c.-489G>A rs886050091 0.00001
NM_014363.6(SACS):c.-70G>A rs575970347 0.00001
NM_014363.6(SACS):c.10096C>T (p.His3366Tyr) rs1388546547 0.00001
NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys) rs886050078 0.00001
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys) rs886050075 0.00001
NM_014363.6(SACS):c.12816C>T (p.Gly4272=) rs142643824 0.00001
NM_014363.6(SACS):c.13281T>A (p.Thr4427=) rs1360709632 0.00001
NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp) rs886050071 0.00001
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828 0.00001
NM_014363.6(SACS):c.1762A>G (p.Lys588Glu) rs376186273 0.00001
NM_014363.6(SACS):c.2110C>A (p.Leu704Ile) rs767844042 0.00001
NM_014363.6(SACS):c.2488G>A (p.Asp830Asn) rs571646732 0.00001
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser) rs774044532 0.00001
NM_014363.6(SACS):c.3417C>T (p.His1139=) rs758862765 0.00001
NM_014363.6(SACS):c.3545C>T (p.Ala1182Val) rs373859681 0.00001
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) rs757939935 0.00001
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu) rs1330036755 0.00001
NM_014363.6(SACS):c.47G>T (p.Gly16Val) rs886050090 0.00001
NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg) rs774492331 0.00001
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile) rs373812430 0.00001
NM_014363.6(SACS):c.6096G>A (p.Ser2032=) rs756027210 0.00001
NM_014363.6(SACS):c.60C>T (p.Cys20=) rs932552006 0.00001
NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn) rs149278134 0.00001
NM_014363.6(SACS):c.7376T>C (p.Met2459Thr) rs767864000 0.00001
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val) rs866333277 0.00001
NM_014363.6(SACS):c.7817A>G (p.Asn2606Ser) rs1191066514 0.00001
NM_014363.6(SACS):c.8191C>T (p.Arg2731Cys) rs772072343 0.00001
NM_014363.6(SACS):c.8379G>A (p.Gln2793=) rs776028181 0.00001
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272 0.00001
NM_014363.6(SACS):c.944A>G (p.Asp315Gly) rs771115225 0.00001
NM_000231.3(SGCG):c.*136T>C rs3751372
NM_014363.6(SACS):c.*1039C>T rs1593117762
NM_014363.6(SACS):c.*1046CTTTA[1] rs66920661
NM_014363.6(SACS):c.*1142G>A rs1883304820
NM_014363.6(SACS):c.*1162C>G rs1883303203
NM_014363.6(SACS):c.*1292A>T rs147476665
NM_014363.6(SACS):c.*716T>G rs1883326909
NM_014363.6(SACS):c.*919T>C rs1883315768
NM_014363.6(SACS):c.-502+2T>G rs1874525003
NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg) rs372488932
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.10513T>C (p.Ser3505Pro) rs1883615724
NM_014363.6(SACS):c.10515A>C (p.Ser3505=) rs1883615412
NM_014363.6(SACS):c.10534G>C (p.Glu3512Gln) rs1883614344
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.10705C>T (p.Leu3569Phe) rs1883603870
NM_014363.6(SACS):c.10716C>G (p.Pro3572=) rs886050077
NM_014363.6(SACS):c.10967C>G (p.Pro3656Arg) rs886050076
NM_014363.6(SACS):c.11027C>T (p.Thr3676Ile) rs1883575875
NM_014363.6(SACS):c.1173T>C (p.Ser391=) rs150683286
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg) rs764554878
NM_014363.6(SACS):c.12035T>C (p.Ile4012Thr) rs1883497856
NM_014363.6(SACS):c.12063T>C (p.His4021=) rs886050074
NM_014363.6(SACS):c.12693T>C (p.Tyr4231=) rs1163399365
NM_014363.6(SACS):c.12700T>C (p.Tyr4234His) rs886050073
NM_014363.6(SACS):c.12812C>T (p.Pro4271Leu) rs779668584
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser) rs370655945
NM_014363.6(SACS):c.13031A>G (p.Asn4344Ser) rs886050072
NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser) rs757326594
NM_014363.6(SACS):c.13512A>G (p.Ala4504=) rs886050070
NM_014363.6(SACS):c.13563T>C (p.Asn4521=) rs766497653
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3557T>C (p.Met1186Thr) rs886050087
NM_014363.6(SACS):c.3615C>T (p.Ile1205=) rs886050086
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.4234C>T (p.Leu1412Phe) rs961377840
NM_014363.6(SACS):c.4976T>G (p.Val1659Gly) rs886050085
NM_014363.6(SACS):c.4986G>A (p.Thr1662=) rs755523201
NM_014363.6(SACS):c.5043C>T (p.His1681=) rs1868915593
NM_014363.6(SACS):c.5302C>T (p.His1768Tyr) rs758381112
NM_014363.6(SACS):c.5770G>T (p.Val1924Leu) rs1329947939
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp) rs141019064
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.6070C>G (p.Leu2024Val) rs758895050
NM_014363.6(SACS):c.6451T>G (p.Leu2151Val) rs886050084
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979
NM_014363.6(SACS):c.6643T>C (p.Phe2215Leu) rs886050083
NM_014363.6(SACS):c.6754G>T (p.Asp2252Tyr) rs886050082
NM_014363.6(SACS):c.736C>G (p.Gln246Glu) rs886050089
NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer) rs1555251421
NM_014363.6(SACS):c.7535A>G (p.Asn2512Ser) rs777424692
NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn) rs750491874
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014363.6(SACS):c.7857T>C (p.Thr2619=) rs886050081
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu) rs34928783
NM_014363.6(SACS):c.8056C>T (p.Leu2686=) rs748595405
NM_014363.6(SACS):c.8341C>G (p.His2781Asp) rs886050080
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser) rs886050079
NM_014363.6(SACS):c.8853T>G (p.Val2951=) rs9552929
NM_014363.6(SACS):c.8858A>C (p.Lys2953Thr) rs1868444121
NM_014363.6(SACS):c.9572C>T (p.Thr3191Ile) rs1883687760
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.6(SACS):c.9779A>G (p.Asp3260Gly) rs1883670937

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