ClinVar Miner

List of variants reported as uncertain significance for Charlevoix-Saguenay spastic ataxia by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957 0.00084
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018 0.00040
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe) rs138413501 0.00036
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala) rs372022664 0.00022
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.9275A>T (p.Tyr3092Phe) rs139579036 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.6640C>T (p.Arg2214Cys) rs138379074 0.00017
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser) rs138609508 0.00014
NM_014363.6(SACS):c.12647A>G (p.Asp4216Gly) rs550068559 0.00012
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys) rs141553858 0.00012
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822 0.00012
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile) rs368089670 0.00011
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836 0.00011
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.4900G>C (p.Glu1634Gln) rs143961484 0.00011
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800 0.00011
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val) rs201866523 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.5744A>G (p.His1915Arg) rs144822691 0.00009
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505 0.00007
NM_014363.6(SACS):c.175T>A (p.Ser59Thr) rs539836931 0.00007
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198 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.432G>T (p.Trp144Cys) rs368570790 0.00006
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511 0.00006
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser) rs201294520 0.00006
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) rs143557803 0.00006
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) rs746953932 0.00005
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201 0.00005
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.4255A>G (p.Ile1419Val) rs138245586 0.00004
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn) rs769751841 0.00004
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys) rs762896797 0.00004
NM_014363.6(SACS):c.8192G>A (p.Arg2731His) rs201127191 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu) rs749327297 0.00004
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) rs377657177 0.00004
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr) rs149290718 0.00004
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103 0.00003
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly) rs543563990 0.00003
NM_014363.6(SACS):c.10268T>C (p.Ile3423Thr) rs767281295 0.00003
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala) rs767704103 0.00003
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) rs201752905 0.00003
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn) rs201021919 0.00003
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439 0.00003
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln) rs139670073 0.00003
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser) rs376188585 0.00002
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr) rs190383030 0.00002
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710 0.00002
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) rs368624188 0.00002
NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys) rs886050078 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.13476G>C (p.Val4492=) rs370362235 0.00001
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) rs200437752 0.00001
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln) rs368944813 0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032 0.00001
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) rs757939935 0.00001
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) rs544249449 0.00001
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly) rs370324250 0.00001
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp) rs772907934 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.5732C>T (p.Thr1911Met) rs368494148 0.00001
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn) rs370902090 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.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) rs1007936574 0.00001
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val) rs866333277 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014363.6(SACS):c.8889C>A (p.Phe2963Leu) rs776647599 0.00001
NM_014363.6(SACS):c.9661G>A (p.Val3221Met) rs142867964 0.00001
NM_014363.6(SACS):c.10011C>G (p.Ile3337Met) rs780642116
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle) rs886043821
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.11432T>C (p.Val3811Ala) rs2137566609
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?) rs776682685
NM_014363.6(SACS):c.1593C>G (p.Ile531Met) rs113756713
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) rs774682589
NM_014363.6(SACS):c.3173T>C (p.Ile1058Thr) rs764812936
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg) rs1192682879
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile) rs775069857
NM_014363.6(SACS):c.5591A>G (p.Lys1864Arg) rs1868850876
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile) rs758570844
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp) rs141019064
NM_014363.6(SACS):c.5855T>A (p.Val1952Asp) rs2137615220
NM_014363.6(SACS):c.6062C>A (p.Ser2021Tyr) rs2137613081
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr) rs757161092
NM_014363.6(SACS):c.6740C>G (p.Thr2247Arg) rs1190128123
NM_014363.6(SACS):c.7169G>A (p.Gly2390Asp) rs1868637796
NM_014363.6(SACS):c.7448A>G (p.Tyr2483Cys) rs2137600321
NM_014363.6(SACS):c.7795G>C (p.Asp2599His) rs1868563918
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu) rs34928783
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser) rs886050079
NM_014363.6(SACS):c.9055A>G (p.Thr3019Ala) rs2137587151
NM_014363.6(SACS):c.9912C>T (p.Leu3304=) rs1593124372

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