ClinVar Miner

List of variants studied for Charlevoix-Saguenay spastic ataxia by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 387
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
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_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020 0.03313
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595 0.02863
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02528
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.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
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.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.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814 0.00525
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
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.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.9846A>G (p.Pro3282=) rs61753111 0.00281
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
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.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.3074A>T (p.Asn1025Ile) rs150981983 0.00097
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe) rs145213666 0.00091
NM_014363.6(SACS):c.1374A>G (p.Thr458=) rs149129638 0.00076
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534 0.00067
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) rs147013767 0.00060
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.3637T>C (p.Leu1213=) rs577638741 0.00043
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.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) rs140678034 0.00032
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.2929C>T (p.Leu977=) rs146296924 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr) rs140028127 0.00026
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys) rs61978562 0.00024
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265 0.00024
NM_014363.6(SACS):c.1884C>T (p.Pro628=) rs144468379 0.00023
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.7200T>C (p.Phe2400=) rs148544893 0.00020
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.7647T>G (p.Leu2549=) rs186301471 0.00019
NM_014363.6(SACS):c.9333T>C (p.Asn3111=) rs150532740 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.2492A>G (p.Glu831Gly) rs375968367 0.00017
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp) rs149018756 0.00017
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074 0.00017
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135 0.00016
NM_014363.6(SACS):c.13272C>T (p.Ala4424=) rs567495567 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.9299C>A (p.Ser3100Tyr) rs150615169 0.00014
NM_014363.6(SACS):c.9399A>G (p.Lys3133=) rs762665640 0.00013
NM_014363.6(SACS):c.4998A>G (p.Thr1666=) rs184994682 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.12451C>T (p.Leu4151=) rs780701057 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.5841C>T (p.Pro1947=) rs145371235 0.00011
NM_014363.6(SACS):c.1464G>A (p.Pro488=) rs375352514 0.00010
NM_014363.6(SACS):c.2494T>C (p.Ser832Pro) rs549957998 0.00010
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr) rs147517201 0.00010
NM_014363.6(SACS):c.10221A>G (p.Leu3407=) rs143243372 0.00009
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys) rs373478772 0.00009
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022 0.00009
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691 0.00009
NM_014363.6(SACS):c.10482A>G (p.Leu3494=) rs149643158 0.00008
NM_014363.6(SACS):c.11780C>T (p.Ala3927Val) rs142926244 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.6178G>C (p.Val2060Leu) rs373226693 0.00007
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) rs370095300 0.00007
NM_014363.6(SACS):c.8482A>G (p.Ser2828Gly) rs9552930 0.00007
NM_014363.6(SACS):c.10047A>G (p.Ser3349=) rs138909482 0.00006
NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg) rs1299454627 0.00006
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036 0.00006
NM_014363.6(SACS):c.110G>A (p.Arg37His) rs866539724 0.00006
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779 0.00006
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr) rs200707453 0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225 0.00006
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly) rs770895110 0.00006
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198 0.00006
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216 0.00006
NM_014363.6(SACS):c.2551G>T (p.Val851Phe) rs756890722 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.3768C>T (p.Tyr1256=) rs200350631 0.00006
NM_014363.6(SACS):c.432G>T (p.Trp144Cys) rs368570790 0.00006
NM_014363.6(SACS):c.4743C>T (p.Phe1581=) rs143310473 0.00006
NM_014363.6(SACS):c.5529G>C (p.Leu1843=) rs148091738 0.00006
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511 0.00006
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) rs143557803 0.00006
NM_014363.6(SACS):c.9551G>A (p.Arg3184His) rs200453385 0.00006
NM_014363.6(SACS):c.10980C>T (p.Pro3660=) rs141353693 0.00005
NM_014363.6(SACS):c.1152T>G (p.Thr384=) rs185643322 0.00005
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) rs746953932 0.00005
NM_014363.6(SACS):c.3729A>G (p.Glu1243=) rs756663705 0.00005
NM_014363.6(SACS):c.396A>G (p.Leu132=) rs1256540997 0.00005
NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg) rs199998045 0.00005
NM_014363.6(SACS):c.51C>T (p.Cys17=) rs763979020 0.00005
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201 0.00005
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) rs200591364 0.00004
NM_014363.6(SACS):c.10256G>A (p.Arg3419His) rs536675517 0.00004
NM_014363.6(SACS):c.10438C>T (p.His3480Tyr) rs761189797 0.00004
NM_014363.6(SACS):c.10737G>A (p.Met3579Ile) rs199970621 0.00004
NM_014363.6(SACS):c.10983G>A (p.Ala3661=) rs200900703 0.00004
NM_014363.6(SACS):c.11049T>C (p.Asn3683=) rs773770705 0.00004
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser) rs780789569 0.00004
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn) rs762041995 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.1297G>C (p.Ala433Pro) rs770677319 0.00004
NM_014363.6(SACS):c.134C>T (p.Pro45Leu) rs1033188876 0.00004
NM_014363.6(SACS):c.1387C>A (p.His463Asn) rs149951538 0.00004
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014363.6(SACS):c.346-3T>A rs186506382 0.00004
NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg) rs374961109 0.00004
NM_014363.6(SACS):c.5274C>T (p.Cys1758=) rs201982449 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn) rs769751841 0.00004
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu) rs201690040 0.00004
NM_014363.6(SACS):c.6496C>T (p.Arg2166Cys) rs764516788 0.00004
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) rs143477126 0.00004
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys) rs762896797 0.00004
NM_014363.6(SACS):c.7916T>C (p.Ile2639Thr) rs202144442 0.00004
NM_014363.6(SACS):c.8192G>A (p.Arg2731His) rs201127191 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.9788A>G (p.Glu3263Gly) rs369713918 0.00004
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro) rs775506976 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.10255C>T (p.Arg3419Cys) rs765758197 0.00003
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe) rs755172172 0.00003
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly) rs1170997950 0.00003
NM_014363.6(SACS):c.11886A>G (p.Ile3962Met) rs1252737332 0.00003
NM_014363.6(SACS):c.159C>G (p.Arg53=) rs968138431 0.00003
NM_014363.6(SACS):c.1886C>T (p.Ala629Val) rs760505057 0.00003
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn) rs201021919 0.00003
NM_014363.6(SACS):c.2853C>A (p.His951Gln) rs200644511 0.00003
NM_014363.6(SACS):c.4098G>C (p.Leu1366=) rs200381539 0.00003
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly) rs1172044277 0.00003
NM_014363.6(SACS):c.5458C>T (p.Leu1820=) rs754748296 0.00003
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn) rs772515267 0.00003
NM_014363.6(SACS):c.7497C>T (p.Val2499=) rs774558627 0.00003
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439 0.00003
NM_014363.6(SACS):c.8693G>A (p.Arg2898His) rs201977288 0.00003
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127 0.00002
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser) rs376188585 0.00002
NM_014363.6(SACS):c.11264T>C (p.Ile3755Thr) rs781590547 0.00002
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala) rs774463808 0.00002
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe) rs753844954 0.00002
NM_014363.6(SACS):c.11901A>G (p.Gln3967=) rs572068106 0.00002
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg) rs753511073 0.00002
NM_014363.6(SACS):c.1310C>T (p.Thr437Met) rs199657817 0.00002
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp) rs375722463 0.00002
NM_014363.6(SACS):c.1483T>A (p.Phe495Ile) rs748972179 0.00002
NM_014363.6(SACS):c.2403A>G (p.Pro801=) rs758503842 0.00002
NM_014363.6(SACS):c.2472G>A (p.Ser824=) rs554395185 0.00002
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe) rs760556327 0.00002
NM_014363.6(SACS):c.2733C>T (p.Thr911=) rs199702597 0.00002
NM_014363.6(SACS):c.3550C>T (p.Pro1184Ser) rs200831217 0.00002
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr) rs770007806 0.00002
NM_014363.6(SACS):c.4878C>T (p.Gly1626=) rs778664565 0.00002
NM_014363.6(SACS):c.494C>T (p.Thr165Ile) rs1419027987 0.00002
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) rs201724656 0.00002
NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn) rs763496360 0.00002
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln) rs772866081 0.00002
NM_014363.6(SACS):c.5906A>G (p.His1969Arg) rs776693219 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.6593T>C (p.Ile2198Thr) rs754906806 0.00002
NM_014363.6(SACS):c.7171G>A (p.Val2391Met) rs760087813 0.00002
NM_014363.6(SACS):c.7207G>C (p.Val2403Leu) rs779973547 0.00002
NM_014363.6(SACS):c.7354T>C (p.Leu2452=) rs761258047 0.00002
NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser) rs200106708 0.00002
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys) rs759112797 0.00002
NM_014363.6(SACS):c.9128A>G (p.Tyr3043Cys) rs761690372 0.00002
NM_014363.6(SACS):c.10819A>G (p.Ile3607Val) rs372494676 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val) rs748237614 0.00001
NM_014363.6(SACS):c.11150A>T (p.Lys3717Ile) rs1883567634 0.00001
NM_014363.6(SACS):c.11207T>C (p.Met3736Thr) rs759433888 0.00001
NM_014363.6(SACS):c.11535A>G (p.Glu3845=) rs750167647 0.00001
NM_014363.6(SACS):c.11684T>G (p.Val3895Gly) rs766487632 0.00001
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) rs774906736 0.00001
NM_014363.6(SACS):c.11737G>C (p.Asp3913His) rs746782589 0.00001
NM_014363.6(SACS):c.11738A>T (p.Asp3913Val) rs1236705431 0.00001
NM_014363.6(SACS):c.11887A>G (p.Met3963Val) rs375613914 0.00001
NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg) rs1328721442 0.00001
NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys) rs778310483 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile) rs764098635 0.00001
NM_014363.6(SACS):c.12606A>C (p.Thr4202=) rs780674369 0.00001
NM_014363.6(SACS):c.12635G>A (p.Arg4212Lys) rs1490155590 0.00001
NM_014363.6(SACS):c.13119C>T (p.Asp4373=) rs368124828 0.00001
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg) rs754693143 0.00001
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=) rs753277514 0.00001
NM_014363.6(SACS):c.13506A>G (p.Pro4502=) rs1593119067 0.00001
NM_014363.6(SACS):c.13509T>G (p.Thr4503=) rs745361567 0.00001
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn) rs138328181 0.00001
NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg) rs750412600 0.00001
NM_014363.6(SACS):c.1683G>A (p.Val561=) rs1485932032 0.00001
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828 0.00001
NM_014363.6(SACS):c.1752A>G (p.Leu584=) rs368626712 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.2023A>T (p.Asn675Tyr) rs374667929 0.00001
NM_014363.6(SACS):c.2278T>C (p.Leu760=) rs770454726 0.00001
NM_014363.6(SACS):c.2451C>T (p.Leu817=) rs756595744 0.00001
NM_014363.6(SACS):c.2581C>T (p.His861Tyr) rs759265754 0.00001
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu) rs776290829 0.00001
NM_014363.6(SACS):c.2830T>C (p.Leu944=) rs1348417682 0.00001
NM_014363.6(SACS):c.3017A>G (p.His1006Arg) rs368149368 0.00001
NM_014363.6(SACS):c.3096G>A (p.Glu1032=) rs529746813 0.00001
NM_014363.6(SACS):c.3242C>T (p.Pro1081Leu) rs377493083 0.00001
NM_014363.6(SACS):c.3343G>A (p.Val1115Ile) rs771915442 0.00001
NM_014363.6(SACS):c.3408T>G (p.Asn1136Lys) rs756303420 0.00001
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) rs1443000762 0.00001
NM_014363.6(SACS):c.4149T>C (p.His1383=) rs749219225 0.00001
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) rs544249449 0.00001
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp) rs772907934 0.00001
NM_014363.6(SACS):c.475T>C (p.Tyr159His) rs1305721973 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.482A>G (p.Asn161Ser) rs746069731 0.00001
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu) rs771080306 0.00001
NM_014363.6(SACS):c.4846A>C (p.Asn1616His) rs979327782 0.00001
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn) rs774163551 0.00001
NM_014363.6(SACS):c.4963A>G (p.Lys1655Glu) rs1035497308 0.00001
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys) rs1269546947 0.00001
NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile) rs776656956 0.00001
NM_014363.6(SACS):c.5064G>A (p.Gln1688=) rs760628805 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.593A>G (p.Tyr198Cys) rs1461096954 0.00001
NM_014363.6(SACS):c.5975G>A (p.Arg1992Lys) rs758101602 0.00001
NM_014363.6(SACS):c.598A>G (p.Ile200Val) rs762268076 0.00001
NM_014363.6(SACS):c.6485A>G (p.Asp2162Gly) rs369388933 0.00001
NM_014363.6(SACS):c.6776C>T (p.Pro2259Leu) rs150098233 0.00001
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val) rs202110208 0.00001
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg) rs754381972 0.00001
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp) rs759201960 0.00001
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val) rs752273313 0.00001
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) rs773182375 0.00001
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr) rs1213144547 0.00001
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) rs1007936574 0.00001
NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser) rs1288769278 0.00001
NM_014363.6(SACS):c.7833G>A (p.Thr2611=) rs1237743096 0.00001
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val) rs1269342975 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746 0.00001
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu) rs762610527 0.00001
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr) rs182864646 0.00001
NM_014363.6(SACS):c.8233G>A (p.Glu2745Lys) rs745462710 0.00001
NM_014363.6(SACS):c.8281G>A (p.Val2761Met) rs372119773 0.00001
NM_014363.6(SACS):c.8356G>C (p.Asp2786His) rs753607639 0.00001
NM_014363.6(SACS):c.83C>T (p.Ser28Phe) rs1365453773 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn) rs1382975968 0.00001
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272 0.00001
NM_014363.6(SACS):c.8799T>C (p.Tyr2933=) rs779302353 0.00001
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp) rs184407783 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014363.6(SACS):c.8900G>A (p.Arg2967His) rs777753707 0.00001
NM_014363.6(SACS):c.8922A>G (p.Leu2974=) rs563864403 0.00001
NM_014363.6(SACS):c.8931A>G (p.Leu2977=) rs376228714 0.00001
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg) rs758654165 0.00001
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp) rs755698899 0.00001
NM_014363.6(SACS):c.9492A>C (p.Gln3164His) rs1025915131 0.00001
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) rs776143384 0.00001
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr) rs765635417 0.00001
NM_014363.6(SACS):c.10227A>G (p.Ser3409=) rs1593123878
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg) rs200991790
NM_014363.6(SACS):c.10387T>C (p.Tyr3463His) rs1883623876
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.10731A>C (p.Thr3577=) rs759287298
NM_014363.6(SACS):c.11003C>G (p.Pro3668Arg) rs1883577094
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile) rs1027336196
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala) rs1593122374
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.11853A>G (p.Leu3951=) rs1883510768
NM_014363.6(SACS):c.11927G>A (p.Ser3976Asn) rs1883504909
NM_014363.6(SACS):c.12232C>A (p.Arg4078=) rs141315518
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser) rs370655945
NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu) rs781029021
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr) rs778808568
NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu) rs775817492
NM_014363.6(SACS):c.1331C>G (p.Ala444Gly) rs951437363
NM_014363.6(SACS):c.13320G>A (p.Ser4440=) rs759847087
NM_014363.6(SACS):c.1332A>G (p.Ala444=) rs1039811925
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter) rs927804920
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?) rs776682685
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser) rs1593144937
NM_014363.6(SACS):c.141G>A (p.Ser47=) rs1593160882
NM_014363.6(SACS):c.1498G>A (p.Val500Ile) rs1244967438
NM_014363.6(SACS):c.1799A>G (p.Gln600Arg) rs1348513054
NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del) rs764516069
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe) rs374680967
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly) rs752059006
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.2322A>G (p.Pro774=) rs1869225328
NM_014363.6(SACS):c.247T>C (p.Leu83=) rs1470292816
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) rs774682589
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.2904C>T (p.Asp968=) rs149585868
NM_014363.6(SACS):c.2926C>T (p.Arg976Cys) rs139993038
NM_014363.6(SACS):c.3070A>G (p.Lys1024Glu) rs1869134973
NM_014363.6(SACS):c.3413A>G (p.Asn1138Ser) rs1202128043
NM_014363.6(SACS):c.3429A>G (p.Gln1143=) rs1869096503
NM_014363.6(SACS):c.3992A>G (p.His1331Arg) rs1869039514
NM_014363.6(SACS):c.4145A>G (p.His1382Arg) rs550057119
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter) rs768209419
NM_014363.6(SACS):c.4522A>C (p.Asn1508His) rs144653411
NM_014363.6(SACS):c.4606G>T (p.Val1536Leu) rs764832688
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs) rs765361868
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter) rs770901638
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.559G>T (p.Val187Phe) rs1344578174
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.5858A>T (p.His1953Leu) rs1428265468
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs) rs773754134
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.6119C>G (p.Ala2040Gly) rs1234193312
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) rs766711286
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser) rs1566066009
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val) rs1415663565
NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg) rs1044714793
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu) rs774487714
NM_014363.6(SACS):c.6844T>C (p.Leu2282=) rs1868678889
NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln) rs1397588851
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.7812T>C (p.Ile2604=) rs1593127031
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.8768T>C (p.Val2923Ala) rs1566062448
NM_014363.6(SACS):c.8802C>T (p.Phe2934=) rs1868452276
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr) rs1085307569
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu) rs569955570
NM_014363.6(SACS):c.972C>T (p.Asp324=) rs546652936

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