ClinVar Miner

List of variants in gene SYNE1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 347
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382 0.01086
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=) rs144596829 0.00916
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103 0.00909
NM_182961.4(SYNE1):c.2892+21A>G rs148626610 0.00906
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106 0.00761
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241 0.00676
NM_182961.4(SYNE1):c.25120-16G>T rs139671151 0.00648
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518 0.00546
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038 0.00474
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771 0.00432
NM_182961.4(SYNE1):c.5341A>T (p.Ile1781Phe) rs141796889 0.00430
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183 0.00415
NM_182961.4(SYNE1):c.2220G>A (p.Met740Ile) rs146001055 0.00412
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713 0.00395
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417 0.00388
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265 0.00379
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488 0.00359
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638 0.00314
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys) rs148346599 0.00283
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp) rs34028822 0.00278
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00275
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=) rs112266645 0.00274
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=) rs114747836 0.00268
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00178
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 0.00178
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801 0.00172
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=) rs73619386 0.00171
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770 0.00170
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885 0.00169
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635 0.00166
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988 0.00154
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996 0.00147
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550 0.00140
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys) rs148997223 0.00138
NM_182961.4(SYNE1):c.2881C>T (p.Arg961Trp) rs201146062 0.00135
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711 0.00133
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile) rs140927945 0.00132
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884 0.00126
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284 0.00116
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389 0.00116
NM_182961.4(SYNE1):c.6946A>G (p.Ile2316Val) rs116721144 0.00114
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213 0.00110
NM_182961.4(SYNE1):c.18114G>A (p.Ala6038=) rs149923357 0.00107
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123 0.00106
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) rs146567178 0.00105
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn) rs142388112 0.00105
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749 0.00103
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713 0.00100
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val) rs147947903 0.00099
NM_182961.4(SYNE1):c.6826-6A>G rs183683592 0.00091
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825 0.00089
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338 0.00082
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524 0.00080
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905 0.00073
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp) rs149215868 0.00067
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566 0.00066
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) rs141057568 0.00063
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525 0.00061
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489 0.00057
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769 0.00056
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=) rs139070088 0.00056
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018 0.00054
NM_182961.4(SYNE1):c.1730-7G>A rs367603152 0.00054
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177 0.00052
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368 0.00051
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly) rs138481762 0.00051
NM_182961.4(SYNE1):c.17542-7G>A rs199762799 0.00050
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr) rs139643725 0.00045
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln) rs143639400 0.00043
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile) rs150550013 0.00042
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713 0.00041
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993 0.00039
NM_182961.4(SYNE1):c.19692+3G>A rs150304757 0.00039
NM_182961.4(SYNE1):c.6889G>A (p.Gly2297Arg) rs117184249 0.00039
NM_182961.4(SYNE1):c.15657+5T>A rs199779021 0.00036
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=) rs148556501 0.00035
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744 0.00034
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser) rs199769508 0.00034
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947 0.00032
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338 0.00029
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe) rs140135976 0.00025
NM_182961.4(SYNE1):c.12225+4G>A rs770448083 0.00024
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806 0.00024
NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg) rs201664645 0.00024
NM_182961.4(SYNE1):c.2569-8C>T rs376033376 0.00023
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=) rs115535983 0.00022
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala) rs200701182 0.00021
NM_182961.4(SYNE1):c.4477A>G (p.Ile1493Val) rs139544072 0.00021
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238 0.00019
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856 0.00018
NM_182961.4(SYNE1):c.22923C>T (p.Ala7641=) rs2296253 0.00018
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=) rs377088951 0.00016
NM_182961.4(SYNE1):c.6649G>A (p.Val2217Ile) rs377531174 0.00016
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His) rs147667464 0.00015
NM_182961.4(SYNE1):c.25120-6A>G rs201898019 0.00015
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe) rs200424447 0.00015
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=) rs138650597 0.00014
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=) rs370053768 0.00014
NM_182961.4(SYNE1):c.22072G>T (p.Ala7358Ser) rs145518327 0.00014
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn) rs142747430 0.00014
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=) rs141263831 0.00013
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile) rs376463379 0.00013
NM_182961.4(SYNE1):c.6812C>T (p.Pro2271Leu) rs555536675 0.00012
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe) rs141934037 0.00011
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=) rs142327194 0.00011
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys) rs142593312 0.00011
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg) rs145882956 0.00011
NM_182961.4(SYNE1):c.14380C>T (p.Leu4794=) rs138307449 0.00010
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010 0.00010
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408 0.00010
NM_182961.4(SYNE1):c.11867T>C (p.Leu3956Pro) rs150913316 0.00009
NM_182961.4(SYNE1):c.20163C>T (p.Asn6721=) rs201221147 0.00009
NM_182961.4(SYNE1):c.20182C>T (p.Arg6728Cys) rs150063353 0.00009
NM_182961.4(SYNE1):c.2210T>C (p.Val737Ala) rs746347703 0.00009
NM_182961.4(SYNE1):c.2427G>A (p.Glu809=) rs749509412 0.00009
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=) rs140986546 0.00009
NM_182961.4(SYNE1):c.10312G>A (p.Glu3438Lys) rs550171329 0.00008
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp) rs377410590 0.00008
NM_182961.4(SYNE1):c.18345G>C (p.Glu6115Asp) rs749005373 0.00008
NM_182961.4(SYNE1):c.23897G>A (p.Cys7966Tyr) rs1054958938 0.00008
NM_182961.4(SYNE1):c.23933G>A (p.Arg7978Gln) rs774319570 0.00008
NM_182961.4(SYNE1):c.2448G>A (p.Pro816=) rs375111758 0.00007
NM_182961.4(SYNE1):c.10935C>T (p.His3645=) rs201704617 0.00006
NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys) rs145738035 0.00006
NM_182961.4(SYNE1):c.12798T>A (p.Ser4266=) rs373438870 0.00006
NM_182961.4(SYNE1):c.2893-5G>A rs370196519 0.00006
NM_182961.4(SYNE1):c.310-468G>A rs143635963 0.00006
NM_182961.4(SYNE1):c.3433A>G (p.Thr1145Ala) rs148733093 0.00006
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu) rs760256766 0.00006
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=) rs754584363 0.00006
NM_182961.4(SYNE1):c.5441A>G (p.Glu1814Gly) rs557081125 0.00006
NM_182961.4(SYNE1):c.10443+5G>A rs557835636 0.00005
NM_182961.4(SYNE1):c.11848C>T (p.Leu3950Phe) rs182154754 0.00005
NM_182961.4(SYNE1):c.17848G>C (p.Val5950Leu) rs200589166 0.00005
NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys) rs141278167 0.00005
NM_182961.4(SYNE1):c.26093C>T (p.Thr8698Met) rs139560053 0.00005
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys) rs757479164 0.00005
NM_182961.4(SYNE1):c.10257T>C (p.His3419=) rs147631683 0.00004
NM_182961.4(SYNE1):c.10597C>T (p.Arg3533Cys) rs776816480 0.00004
NM_182961.4(SYNE1):c.13553G>A (p.Arg4518His) rs148248006 0.00004
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met) rs199996504 0.00004
NM_182961.4(SYNE1):c.19188C>T (p.Asp6396=) rs369626489 0.00004
NM_182961.4(SYNE1):c.24780G>A (p.Ser8260=) rs766320378 0.00004
NM_182961.4(SYNE1):c.3099C>T (p.Ala1033=) rs201752079 0.00004
NM_182961.4(SYNE1):c.780C>T (p.Asp260=) rs376480815 0.00004
NM_182961.4(SYNE1):c.862G>A (p.Ala288Thr) rs770907182 0.00004
NM_182961.4(SYNE1):c.888+4G>C rs749258298 0.00004
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=) rs138882800 0.00003
NM_182961.4(SYNE1):c.12930C>T (p.Asp4310=) rs760209358 0.00003
NM_182961.4(SYNE1):c.14186C>T (p.Ala4729Val) rs749275993 0.00003
NM_182961.4(SYNE1):c.15414G>A (p.Ala5138=) rs746436040 0.00003
NM_182961.4(SYNE1):c.18363C>T (p.Ala6121=) rs758953542 0.00003
NM_182961.4(SYNE1):c.18679C>T (p.Arg6227Trp) rs201873107 0.00003
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=) rs750669148 0.00003
NM_182961.4(SYNE1):c.3911G>C (p.Gly1304Ala) rs141164314 0.00003
NM_182961.4(SYNE1):c.4257G>T (p.Gln1419His) rs142705233 0.00003
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro) rs376518010 0.00003
NM_182961.4(SYNE1):c.10762G>A (p.Glu3588Lys) rs371209532 0.00002
NM_182961.4(SYNE1):c.14577G>C (p.Gln4859His) rs369433602 0.00002
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter) rs375077588 0.00002
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln) rs150604289 0.00002
NM_182961.4(SYNE1):c.17255A>G (p.Gln5752Arg) rs201146113 0.00002
NM_182961.4(SYNE1):c.17866C>T (p.Arg5956Cys) rs558631055 0.00002
NM_182961.4(SYNE1):c.18441T>C (p.Asn6147=) rs558367406 0.00002
NM_182961.4(SYNE1):c.18992G>A (p.Arg6331Gln) rs761642282 0.00002
NM_182961.4(SYNE1):c.21351+6A>G rs760934207 0.00002
NM_182961.4(SYNE1):c.22998A>T (p.Lys7666Asn) rs766033119 0.00002
NM_182961.4(SYNE1):c.24955C>T (p.Arg8319Trp) rs201109440 0.00002
NM_182961.4(SYNE1):c.2543G>C (p.Ser848Thr) rs770713708 0.00002
NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=) rs201344762 0.00002
NM_182961.4(SYNE1):c.2731A>G (p.Met911Val) rs1310685451 0.00002
NM_182961.4(SYNE1):c.3837+8T>C rs377391406 0.00002
NM_182961.4(SYNE1):c.4299G>A (p.Thr1433=) rs528090478 0.00002
NM_182961.4(SYNE1):c.6281T>A (p.Leu2094Gln) rs201747340 0.00002
NM_182961.4(SYNE1):c.6550A>G (p.Lys2184Glu) rs765343767 0.00002
NM_182961.4(SYNE1):c.7024G>A (p.Val2342Ile) rs764484003 0.00002
NM_182961.4(SYNE1):c.8468A>G (p.Asp2823Gly) rs545685387 0.00002
NM_182961.4(SYNE1):c.8745G>A (p.Gly2915=) rs533882082 0.00002
NM_182961.4(SYNE1):c.10444-6T>C rs376803162 0.00001
NM_182961.4(SYNE1):c.11083-8T>C rs752554466 0.00001
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter) rs752224921 0.00001
NM_182961.4(SYNE1):c.13710T>C (p.Asp4570=) rs563207771 0.00001
NM_182961.4(SYNE1):c.14079A>G (p.Gln4693=) rs778820710 0.00001
NM_182961.4(SYNE1):c.15197C>G (p.Thr5066Ser) rs373690809 0.00001
NM_182961.4(SYNE1):c.17326G>T (p.Ala5776Ser) rs774018511 0.00001
NM_182961.4(SYNE1):c.17691A>G (p.Ala5897=) rs1227006282 0.00001
NM_182961.4(SYNE1):c.18513G>T (p.Arg6171Ser) rs764725032 0.00001
NM_182961.4(SYNE1):c.18574-4G>C rs767063118 0.00001
NM_182961.4(SYNE1):c.19815T>A (p.Gly6605=) rs776418227 0.00001
NM_182961.4(SYNE1):c.20549A>T (p.Asp6850Val) rs773506774 0.00001
NM_182961.4(SYNE1):c.20647C>T (p.Arg6883Cys) rs746823107 0.00001
NM_182961.4(SYNE1):c.21077A>C (p.Glu7026Ala) rs777755452 0.00001
NM_182961.4(SYNE1):c.22307A>G (p.His7436Arg) rs558199276 0.00001
NM_182961.4(SYNE1):c.23932C>T (p.Arg7978Trp) rs370518890 0.00001
NM_182961.4(SYNE1):c.23969G>A (p.Arg7990Lys) rs777371816 0.00001
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=) rs370421580 0.00001
NM_182961.4(SYNE1):c.24633C>T (p.Ile8211=) rs201078523 0.00001
NM_182961.4(SYNE1):c.25056C>T (p.Thr8352=) rs200678102 0.00001
NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=) rs747858299 0.00001
NM_182961.4(SYNE1):c.3027+57C>T rs766801762 0.00001
NM_182961.4(SYNE1):c.3185G>A (p.Arg1062Lys) rs771821092 0.00001
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=) rs758375991 0.00001
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273 0.00001
NM_182961.4(SYNE1):c.5468T>C (p.Leu1823Pro) rs1423550310 0.00001
NM_182961.4(SYNE1):c.5871del (p.Glu1958fs) rs771857618 0.00001
NM_182961.4(SYNE1):c.600A>T (p.Val200=) rs781563259 0.00001
NM_182961.4(SYNE1):c.6020A>G (p.Lys2007Arg) rs754074875 0.00001
NM_182961.4(SYNE1):c.7512T>C (p.Leu2504=) rs571107594 0.00001
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser) rs568309673 0.00001
NM_182961.4(SYNE1):c.9915A>G (p.Ser3305=) rs764114386 0.00001
NM_182961.3(SYNE1):c.22193delG (p.Gly7398Aspfs) rs1057519157
NM_182961.4(SYNE1):c.10020A>G (p.Ile3340Met) rs756088149
NM_182961.4(SYNE1):c.10443+4C>T
NM_182961.4(SYNE1):c.10657C>T (p.Leu3553=)
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr) rs148028681
NM_182961.4(SYNE1):c.11690A>G (p.Asp3897Gly) rs935958519
NM_182961.4(SYNE1):c.11784C>A (p.Asn3928Lys) rs1192763468
NM_182961.4(SYNE1):c.12203G>A (p.Ser4068Asn) rs1366322267
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=) rs149536991
NM_182961.4(SYNE1):c.13195A>T (p.Met4399Leu)
NM_182961.4(SYNE1):c.13214T>C (p.Ile4405Thr)
NM_182961.4(SYNE1):c.13330C>G (p.Arg4444Gly)
NM_182961.4(SYNE1):c.13617G>T (p.Leu4539Phe) rs981469072
NM_182961.4(SYNE1):c.13752T>C (p.Val4584=)
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=) rs146180064
NM_182961.4(SYNE1):c.14223del (p.Ser4742fs) rs1554468335
NM_182961.4(SYNE1):c.14685C>T (p.Arg4895=)
NM_182961.4(SYNE1):c.14832G>A (p.Leu4944=)
NM_182961.4(SYNE1):c.14899C>T (p.Leu4967Phe)
NM_182961.4(SYNE1):c.15347T>A (p.Leu5116Ter) rs1452163185
NM_182961.4(SYNE1):c.153C>A (p.Asp51Glu)
NM_182961.4(SYNE1):c.1547T>A (p.Leu516Gln) rs1593379831
NM_182961.4(SYNE1):c.15527C>T (p.Ala5176Val)
NM_182961.4(SYNE1):c.15541C>T (p.Leu5181=) rs774649954
NM_182961.4(SYNE1):c.15841G>A (p.Asp5281Asn) rs1322082202
NM_182961.4(SYNE1):c.16155C>G (p.Tyr5385Ter)
NM_182961.4(SYNE1):c.16355C>T (p.Thr5452Ile)
NM_182961.4(SYNE1):c.16470T>C (p.Asn5490=)
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=) rs141380170
NM_182961.4(SYNE1):c.16682A>G (p.Gln5561Arg)
NM_182961.4(SYNE1):c.16710+2_16710+11del rs1589919815
NM_182961.4(SYNE1):c.17217A>C (p.Gln5739His)
NM_182961.4(SYNE1):c.17312_17313del (p.Ile5771fs)
NM_182961.4(SYNE1):c.17314C>A (p.Gln5772Lys) rs2095448965
NM_182961.4(SYNE1):c.17732C>T (p.Ala5911Val) rs781250840
NM_182961.4(SYNE1):c.1774G>A (p.Ala592Thr) rs747150703
NM_182961.4(SYNE1):c.17845A>G (p.Asn5949Asp)
NM_182961.4(SYNE1):c.1787A>G (p.Asn596Ser) rs2154269846
NM_182961.4(SYNE1):c.17917C>T (p.Gln5973Ter) rs1064797331
NM_182961.4(SYNE1):c.18268T>C (p.Cys6090Arg)
NM_182961.4(SYNE1):c.18276C>T (p.Ala6092=) rs2153724828
NM_182961.4(SYNE1):c.18450G>T (p.Leu6150=)
NM_182961.4(SYNE1):c.19179G>A (p.Trp6393Ter)
NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter) rs1258745040
NM_182961.4(SYNE1):c.19513T>A (p.Tyr6505Asn)
NM_182961.4(SYNE1):c.2022G>T (p.Met674Ile)
NM_182961.4(SYNE1):c.20255A>G (p.Asp6752Gly) rs1369753676
NM_182961.4(SYNE1):c.20396G>A (p.Arg6799Lys) rs1588428838
NM_182961.4(SYNE1):c.20641del (p.Leu6881fs) rs2083359401
NM_182961.4(SYNE1):c.21040A>C (p.Ile7014Leu)
NM_182961.4(SYNE1):c.2107G>A (p.Ala703Thr)
NM_182961.4(SYNE1):c.21093A>G (p.Val7031=)
NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter) rs1554226673
NM_182961.4(SYNE1):c.21951C>G (p.Ser7317=)
NM_182961.4(SYNE1):c.22066A>G (p.Thr7356Ala)
NM_182961.4(SYNE1):c.22096G>T (p.Ala7366Ser)
NM_182961.4(SYNE1):c.22165A>T (p.Ile7389Phe)
NM_182961.4(SYNE1):c.22507G>A (p.Glu7503Lys)
NM_182961.4(SYNE1):c.22515C>T (p.Phe7505=)
NM_182961.4(SYNE1):c.2284C>G (p.Gln762Glu) rs368772971
NM_182961.4(SYNE1):c.22880C>A (p.Ala7627Asp)
NM_182961.4(SYNE1):c.2359G>A (p.Ala787Thr)
NM_182961.4(SYNE1):c.2360C>A (p.Ala787Glu)
NM_182961.4(SYNE1):c.23648C>A (p.Thr7883Asn) rs1188174644
NM_182961.4(SYNE1):c.23651T>C (p.Leu7884Pro)
NM_182961.4(SYNE1):c.23791-6del rs757124573
NM_182961.4(SYNE1):c.23864A>G (p.His7955Arg)
NM_182961.4(SYNE1):c.23865C>T (p.His7955=)
NM_182961.4(SYNE1):c.25183A>C (p.Lys8395Gln)
NM_182961.4(SYNE1):c.25636C>A (p.Gln8546Lys) rs2057148131
NM_182961.4(SYNE1):c.25831T>A (p.Ser8611Thr)
NM_182961.4(SYNE1):c.2786T>A (p.Met929Lys)
NM_182961.4(SYNE1):c.2836G>T (p.Ala946Ser)
NM_182961.4(SYNE1):c.2870A>G (p.Glu957Gly) rs773056328
NM_182961.4(SYNE1):c.28T>C (p.Cys10Arg)
NM_182961.4(SYNE1):c.3027+33C>T
NM_182961.4(SYNE1):c.3027+34del rs547705798
NM_182961.4(SYNE1):c.3027+91A>G
NM_182961.4(SYNE1):c.338A>G (p.Asp113Gly) rs886044019
NM_182961.4(SYNE1):c.3495T>G (p.Arg1165=) rs2154248829
NM_182961.4(SYNE1):c.3584C>A (p.Ser1195Tyr)
NM_182961.4(SYNE1):c.393A>C (p.Leu131=) rs139291592
NM_182961.4(SYNE1):c.414G>C (p.Leu138Phe)
NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=) rs776593228
NM_182961.4(SYNE1):c.4619del (p.Ala1540fs) rs2098419549
NM_182961.4(SYNE1):c.463G>A (p.Val155Met)
NM_182961.4(SYNE1):c.4889C>G (p.Ala1630Gly) rs566004273
NM_182961.4(SYNE1):c.5008T>G (p.Trp1670Gly)
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.5236T>C (p.Trp1746Arg) rs752590740
NM_182961.4(SYNE1):c.5687G>T (p.Ser1896Ile) rs1592253022
NM_182961.4(SYNE1):c.5710T>C (p.Leu1904=)
NM_182961.4(SYNE1):c.5869G>A (p.Gly1957Arg)
NM_182961.4(SYNE1):c.5965G>C (p.Glu1989Gln) rs2098157118
NM_182961.4(SYNE1):c.6050+1G>A
NM_182961.4(SYNE1):c.6199T>A (p.Trp2067Arg)
NM_182961.4(SYNE1):c.627C>T (p.Ser209=)
NM_182961.4(SYNE1):c.6432C>T (p.Asn2144=)
NM_182961.4(SYNE1):c.6492C>T (p.Phe2164=)
NM_182961.4(SYNE1):c.67+1G>T rs1213042460
NM_182961.4(SYNE1):c.7134G>A (p.Leu2378=)
NM_182961.4(SYNE1):c.7532_7533del (p.Gln2511fs)
NM_182961.4(SYNE1):c.7535A>G (p.Asp2512Gly)
NM_182961.4(SYNE1):c.7557del (p.Phe2520fs) rs1064797332
NM_182961.4(SYNE1):c.7939C>T (p.Leu2647=) rs1554610128
NM_182961.4(SYNE1):c.8058C>G (p.Gly2686=)
NM_182961.4(SYNE1):c.8188T>G (p.Ser2730Ala) rs886043069
NM_182961.4(SYNE1):c.822T>C (p.Tyr274=)
NM_182961.4(SYNE1):c.8243G>C (p.Trp2748Ser)
NM_182961.4(SYNE1):c.8304G>A (p.Glu2768=)
NM_182961.4(SYNE1):c.8361G>A (p.Thr2787=)
NM_182961.4(SYNE1):c.8733A>T (p.Thr2911=)
NM_182961.4(SYNE1):c.8851A>T (p.Met2951Leu) rs1202916520
NM_182961.4(SYNE1):c.8992T>C (p.Cys2998Arg)
NM_182961.4(SYNE1):c.9082C>A (p.Arg3028=) rs369163343
NM_182961.4(SYNE1):c.9407C>G (p.Thr3136Ser)
NM_182961.4(SYNE1):c.9495A>C (p.Glu3165Asp) rs6913579
NM_182961.4(SYNE1):c.9544G>A (p.Ala3182Thr) rs751435080
NM_182961.4(SYNE1):c.9544_9545delinsAA (p.Ala3182Asn) rs1057519421
NM_182961.4(SYNE1):c.9545C>A (p.Ala3182Asp) rs763637146
NM_182961.4(SYNE1):c.9625A>G (p.Lys3209Glu) rs780991031
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_182961.4(SYNE1):c.9769C>T (p.Leu3257=)
NM_182961.4(SYNE1):c.9789G>A (p.Ala3263=)
NM_182961.4(SYNE1):c.9896C>A (p.Ala3299Glu)
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=) rs184006845
NM_182961.4(SYNE1):c.9904A>G (p.Met3302Val) rs1171056771
NM_182961.4(SYNE1):c.9981A>G (p.Leu3327=)

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