ClinVar Miner

Variants in gene SYNE2 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
3146 293 0 165 149 0 1 278

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic uncertain significance likely benign benign
pathogenic 0 0 1 1
uncertain significance 0 0 113 57
likely benign 1 113 0 165
benign 1 57 165 0

All variants with conflicting interpretations #

Total variants: 278
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035 0.08879
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205 0.08782
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377 0.08740
NM_182914.3(SYNE2):c.16722A>G (p.Gln5574=) rs17101704 0.04797
NM_182914.3(SYNE2):c.14776T>C (p.Leu4926=) rs8007874 0.04106
NM_182914.3(SYNE2):c.7040C>A (p.Ala2347Glu) rs34625768 0.03914
NM_182914.3(SYNE2):c.7075A>G (p.Ser2359Gly) rs7157465 0.03914
NM_182914.3(SYNE2):c.4536A>G (p.Thr1512=) rs11158524 0.03853
NM_182914.3(SYNE2):c.14737G>A (p.Glu4913Lys) rs12881815 0.03757
NM_182914.3(SYNE2):c.14734C>G (p.Pro4912Ala) rs17766354 0.03286
NM_182914.3(SYNE2):c.3559A>C (p.Ile1187Leu) rs57259697 0.03281
NM_182914.3(SYNE2):c.2409C>A (p.Ser803=) rs17101525 0.03277
NM_182914.3(SYNE2):c.10567A>C (p.Lys3523Gln) rs35203186 0.03124
NM_182914.3(SYNE2):c.9078A>T (p.Glu3026Asp) rs34843668 0.02941
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107 0.02936
NM_182914.3(SYNE2):c.12626T>C (p.Ile4209Thr) rs61747118 0.02309
NM_182914.3(SYNE2):c.13254C>A (p.Asn4418Lys) rs36021513 0.02290
NM_182914.3(SYNE2):c.11385G>A (p.Lys3795=) rs34954189 0.02196
NM_182914.3(SYNE2):c.8422C>T (p.Leu2808=) rs35960129 0.02175
NM_182914.3(SYNE2):c.17556+4T>C rs2297301 0.01974
NM_182914.3(SYNE2):c.12122G>A (p.Arg4041His) rs17101661 0.01834
NM_182914.3(SYNE2):c.8597C>T (p.Thr2866Met) rs114508894 0.01330
NM_182914.3(SYNE2):c.13266G>A (p.Gln4422=) rs34944385 0.01230
NM_182914.3(SYNE2):c.9023T>C (p.Ile3008Thr) rs115969845 0.01198
NM_182914.3(SYNE2):c.15794T>C (p.Val5265Ala) rs142660236 0.01196
NM_182914.3(SYNE2):c.16639G>A (p.Asp5547Asn) rs17179194 0.00998
NM_182914.3(SYNE2):c.19639A>G (p.Ile6547Val) rs45453691 0.00993
NM_182914.3(SYNE2):c.16305G>A (p.Leu5435=) rs116758464 0.00817
NM_182914.3(SYNE2):c.5517A>T (p.Leu1839Phe) rs35883188 0.00626
NM_182914.3(SYNE2):c.2026A>G (p.Lys676Glu) rs78191145 0.00610
NM_182914.3(SYNE2):c.14430A>G (p.Thr4810=) rs34248042 0.00566
NM_182914.3(SYNE2):c.16522T>A (p.Ser5508Thr) rs35190322 0.00565
NM_182914.3(SYNE2):c.888+17A>G rs141247973 0.00534
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973 0.00528
NM_182914.3(SYNE2):c.2803T>C (p.Leu935=) rs114718315 0.00474
NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys) rs200842904 0.00462
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_182914.3(SYNE2):c.16420T>A (p.Ser5474Thr) rs114483901 0.00399
NM_182914.3(SYNE2):c.20011G>A (p.Ala6671Thr) rs34820571 0.00341
NM_182914.3(SYNE2):c.20158C>T (p.Arg6720Trp) rs35700578 0.00335
NM_182914.3(SYNE2):c.11379T>C (p.Leu3793=) rs149391344 0.00319
NM_182914.3(SYNE2):c.20117G>A (p.Arg6706Gln) rs35831865 0.00309
NM_182914.3(SYNE2):c.20596C>T (p.Leu6866=) rs141474837 0.00289
NM_182914.3(SYNE2):c.12560A>T (p.Asn4187Ile) rs34480732 0.00262
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129 0.00259
NM_182914.3(SYNE2):c.2560C>G (p.Gln854Glu) rs34449017 0.00250
NM_182914.3(SYNE2):c.10835A>G (p.Gln3612Arg) rs78110192 0.00249
NM_182914.3(SYNE2):c.19415C>T (p.Ser6472Leu) rs150955173 0.00242
NM_182914.3(SYNE2):c.6880-5C>T rs187173455 0.00235
NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=) rs138769395 0.00232
NM_182914.3(SYNE2):c.16095-10G>A rs139126909 0.00225
NM_182914.3(SYNE2):c.11935C>G (p.Leu3979Val) rs76576553 0.00220
NM_182914.3(SYNE2):c.7872A>C (p.Glu2624Asp) rs140325055 0.00217
NM_182914.3(SYNE2):c.18039-5T>A rs189611387 0.00199
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500 0.00193
NM_182914.3(SYNE2):c.20197G>A (p.Glu6733Lys) rs150172232 0.00181
NM_182914.3(SYNE2):c.4286T>C (p.Leu1429Pro) rs150573158 0.00180
NM_182914.3(SYNE2):c.430C>G (p.Leu144Val) rs142000273 0.00180
NM_182914.3(SYNE2):c.11530A>G (p.Ile3844Val) rs140243093 0.00173
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu) rs200742016 0.00172
NM_182914.3(SYNE2):c.7898A>G (p.Asn2633Ser) rs190582637 0.00157
NM_182914.3(SYNE2):c.16156C>T (p.Leu5386Phe) rs184745422 0.00140
NM_182914.3(SYNE2):c.15928T>C (p.Leu5310=) rs74975380 0.00139
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640 0.00138
NM_182914.3(SYNE2):c.11313G>C (p.Gln3771His) rs144596211 0.00133
NM_182914.3(SYNE2):c.10313G>A (p.Cys3438Tyr) rs144108695 0.00132
NM_182914.3(SYNE2):c.1447G>A (p.Glu483Lys) rs200611311 0.00131
NM_182914.3(SYNE2):c.15445C>T (p.Arg5149Cys) rs143088941 0.00127
NM_182914.3(SYNE2):c.18835G>A (p.Ala6279Thr) rs145871645 0.00121
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=) rs150363140 0.00116
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135 0.00116
NM_182914.3(SYNE2):c.7643+6T>C rs144143344 0.00111
NM_182914.3(SYNE2):c.3235A>G (p.Thr1079Ala) rs192128801 0.00103
NM_182914.3(SYNE2):c.7483G>A (p.Gly2495Arg) rs201036334 0.00103
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054 0.00099
NM_182914.3(SYNE2):c.1873C>T (p.His625Tyr) rs192061494 0.00096
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848 0.00094
NM_182914.3(SYNE2):c.1852C>G (p.Leu618Val) rs199697908 0.00094
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln) rs149227847 0.00091
NM_182914.3(SYNE2):c.20161G>A (p.Ala6721Thr) rs140897155 0.00091
NM_182914.3(SYNE2):c.7124T>C (p.Leu2375Pro) rs111902869 0.00091
NM_182914.3(SYNE2):c.13850C>T (p.Thr4617Ile) rs148582250 0.00086
NM_182914.3(SYNE2):c.14792A>G (p.Lys4931Arg) rs147640636 0.00086
NM_182914.3(SYNE2):c.15248A>G (p.Asp5083Gly) rs149617373 0.00086
NM_182914.3(SYNE2):c.3767G>A (p.Arg1256His) rs183356628 0.00084
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737 0.00082
NM_182914.3(SYNE2):c.8403C>T (p.Gly2801=) rs189676726 0.00079
NM_182914.3(SYNE2):c.13424T>C (p.Val4475Ala) rs146977539 0.00076
NM_182914.3(SYNE2):c.17033C>T (p.Thr5678Met) rs147365925 0.00073
NM_182914.3(SYNE2):c.12293C>A (p.Ala4098Asp) rs142169651 0.00070
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His) rs200437377 0.00064
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_182914.3(SYNE2):c.10494A>G (p.Thr3498=) rs201000414 0.00058
NM_182914.3(SYNE2):c.280A>G (p.Ile94Val) rs146748294 0.00056
NM_182914.3(SYNE2):c.8003T>G (p.Leu2668Trp) rs143558316 0.00056
NM_182914.3(SYNE2):c.10392C>T (p.Cys3464=) rs373646325 0.00055
NM_182914.3(SYNE2):c.15218A>G (p.Asn5073Ser) rs142274277 0.00054
NM_182914.3(SYNE2):c.15848A>G (p.Asp5283Gly) rs138797058 0.00054
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942 0.00052
NM_182914.3(SYNE2):c.16591C>A (p.Pro5531Thr) rs145036293 0.00051
NM_182914.3(SYNE2):c.20536C>T (p.Pro6846Ser) rs147848144 0.00051
NM_182914.3(SYNE2):c.8567T>G (p.Leu2856Arg) rs73277593 0.00051
NM_182914.3(SYNE2):c.8761A>C (p.Lys2921Gln) rs182683822 0.00051
NM_182914.3(SYNE2):c.20061+4C>T rs373128678 0.00046
NM_182914.3(SYNE2):c.6071C>T (p.Thr2024Ile) rs201401811 0.00046
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln) rs199561218 0.00043
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser) rs201176149 0.00042
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398 0.00042
NM_182914.3(SYNE2):c.2402A>G (p.Gln801Arg) rs200848069 0.00041
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val) rs199743242 0.00038
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405 0.00037
NM_182914.3(SYNE2):c.13156C>G (p.Gln4386Glu) rs140277551 0.00036
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607 0.00036
NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val) rs189676187 0.00032
NM_182914.3(SYNE2):c.13570G>A (p.Glu4524Lys) rs143646847 0.00031
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863 0.00031
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His) rs142206385 0.00030
NM_182914.3(SYNE2):c.12043T>C (p.Tyr4015His) rs75665958 0.00029
NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr) rs149128439 0.00029
NM_182914.3(SYNE2):c.7128A>G (p.Pro2376=) rs117423703 0.00029
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr) rs200836164 0.00027
NM_182914.3(SYNE2):c.10218G>T (p.Leu3406Phe) rs201421128 0.00026
NM_182914.3(SYNE2):c.12121C>T (p.Arg4041Cys) rs146197259 0.00025
NM_182914.3(SYNE2):c.16178C>T (p.Ala5393Val) rs147173048 0.00025
NM_182914.3(SYNE2):c.13065A>G (p.Gln4355=) rs7147884 0.00024
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys) rs144702281 0.00023
NM_182914.3(SYNE2):c.14340+11C>T rs374706268 0.00022
NM_182914.3(SYNE2):c.7708G>A (p.Glu2570Lys) rs376507352 0.00022
NM_182914.3(SYNE2):c.12903C>T (p.Gly4301=) rs148708516 0.00021
NM_182914.3(SYNE2):c.22C>T (p.Pro8Ser) rs2275017 0.00021
NM_182914.3(SYNE2):c.13918-6T>C rs187859624 0.00020
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His) rs538344879 0.00020
NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser) rs372150492 0.00019
NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe) rs201466326 0.00019
NM_182914.3(SYNE2):c.13377C>G (p.Leu4459=) rs141379692 0.00018
NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr) rs148492034 0.00018
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853 0.00018
NM_182914.3(SYNE2):c.12655G>A (p.Ala4219Thr) rs138644399 0.00017
NM_182914.3(SYNE2):c.14139+5G>A rs374778697 0.00017
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His) rs150629598 0.00017
NM_182914.3(SYNE2):c.19417G>C (p.Asp6473His) rs140940287 0.00017
NM_182914.3(SYNE2):c.11061A>G (p.Ala3687=) rs769752720 0.00016
NM_182914.3(SYNE2):c.7762G>A (p.Val2588Met) rs373690979 0.00016
NM_182914.3(SYNE2):c.16856A>G (p.Asp5619Gly) rs139187222 0.00015
NM_182914.3(SYNE2):c.353A>T (p.Asp118Val) rs199860789 0.00015
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala) rs374946613 0.00015
NM_182914.3(SYNE2):c.14574A>G (p.Ile4858Met) rs568071525 0.00014
NM_182914.3(SYNE2):c.14976+10A>G rs367888426 0.00014
NM_182914.3(SYNE2):c.20383-9G>A rs373857906 0.00014
NM_182914.3(SYNE2):c.7310A>G (p.Asn2437Ser) rs373880647 0.00014
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu) rs200909650 0.00014
NM_182914.3(SYNE2):c.20524G>C (p.Gly6842Arg) rs201538331 0.00013
NM_182914.3(SYNE2):c.14518T>C (p.Trp4840Arg) rs148323208 0.00012
NM_182914.3(SYNE2):c.17539G>A (p.Glu5847Lys) rs201427580 0.00012
NM_182914.3(SYNE2):c.18595C>G (p.Gln6199Glu) rs375497206 0.00012
NM_182914.3(SYNE2):c.2190A>G (p.Thr730=) rs374751877 0.00012
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val) rs201269146 0.00011
NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met) rs145018323 0.00011
NM_182914.3(SYNE2):c.16985C>T (p.Thr5662Ile) rs201850995 0.00011
NM_182914.3(SYNE2):c.20462G>A (p.Arg6821Gln) rs148791608 0.00011
NM_182914.3(SYNE2):c.5689G>A (p.Val1897Ile) rs773841153 0.00011
NM_182914.3(SYNE2):c.6772G>A (p.Val2258Ile) rs200336916 0.00011
NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn) rs145874555 0.00010
NM_182914.3(SYNE2):c.12381+6G>A rs781486571 0.00010
NM_182914.3(SYNE2):c.16410C>G (p.Gly5470=) rs200393620 0.00010
NM_182914.3(SYNE2):c.5020T>C (p.Leu1674=) rs201666704 0.00010
NM_182914.3(SYNE2):c.9745-9A>G rs778028287 0.00010
NM_182914.3(SYNE2):c.10760C>T (p.Ser3587Phe) rs748430621 0.00009
NM_182914.3(SYNE2):c.12931G>A (p.Glu4311Lys) rs142277402 0.00009
NM_182914.3(SYNE2):c.18429C>T (p.Asp6143=) rs559412468 0.00009
NM_182914.3(SYNE2):c.18550C>T (p.Arg6184Trp) rs761998546 0.00009
NM_182914.3(SYNE2):c.19323C>T (p.Ser6441=) rs186839881 0.00009
NM_182914.3(SYNE2):c.20190+14C>T rs201963415 0.00009
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His) rs367549881 0.00009
NM_182914.3(SYNE2):c.6664C>G (p.Pro2222Ala) rs201838350 0.00009
NM_182914.3(SYNE2):c.907A>G (p.Met303Val) rs377535370 0.00009
NM_182914.3(SYNE2):c.16127A>G (p.Gln5376Arg) rs753646712 0.00008
NM_182914.3(SYNE2):c.16912G>A (p.Glu5638Lys) rs751734028 0.00008
NM_182914.3(SYNE2):c.2903G>A (p.Arg968His) rs200356303 0.00008
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp) rs773994020 0.00008
NM_182914.3(SYNE2):c.9404A>G (p.Lys3135Arg) rs376121197 0.00008
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr) rs200997641 0.00007
NM_182914.3(SYNE2):c.14984C>T (p.Ser4995Leu) rs149790950 0.00007
NM_182914.3(SYNE2):c.19636G>A (p.Gly6546Ser) rs199577239 0.00007
NM_182914.3(SYNE2):c.20702C>A (p.Thr6901Asn) rs760936547 0.00007
NM_182914.3(SYNE2):c.3326G>A (p.Ser1109Asn) rs150464227 0.00007
NM_182914.3(SYNE2):c.10495A>C (p.Lys3499Gln) rs752900825 0.00006
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235 0.00006
NM_182914.3(SYNE2):c.15689A>G (p.Lys5230Arg) rs146573874 0.00006
NM_182914.3(SYNE2):c.16374A>T (p.Gln5458His) rs191057574 0.00006
NM_182914.3(SYNE2):c.19142G>A (p.Arg6381Gln) rs140857065 0.00006
NM_182914.3(SYNE2):c.19501C>T (p.Pro6501Ser) rs200937358 0.00006
NM_182914.3(SYNE2):c.303A>G (p.Leu101=) rs371277498 0.00006
NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu) rs80046702 0.00006
NM_182914.3(SYNE2):c.787+15T>G rs374295389 0.00006
NM_182914.3(SYNE2):c.8691G>C (p.Glu2897Asp) rs758754933 0.00006
NM_182914.3(SYNE2):c.2194C>A (p.Gln732Lys) rs758897129 0.00005
NM_182914.3(SYNE2):c.3885C>T (p.His1295=) rs570341792 0.00005
NM_182914.3(SYNE2):c.4070C>T (p.Thr1357Met) rs769845003 0.00005
NM_182914.3(SYNE2):c.6685C>G (p.Leu2229Val) rs375543783 0.00005
NM_182914.3(SYNE2):c.10432-17T>G rs376299946 0.00004
NM_182914.3(SYNE2):c.12151C>G (p.Gln4051Glu) rs149546014 0.00004
NM_182914.3(SYNE2):c.12492+12C>T rs368374335 0.00004
NM_182914.3(SYNE2):c.12660A>G (p.Gln4220=) rs745820221 0.00004
NM_182914.3(SYNE2):c.13917+10C>T rs760288753 0.00004
NM_182914.3(SYNE2):c.14071A>G (p.Lys4691Glu) rs143798878 0.00004
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His) rs200137127 0.00004
NM_182914.3(SYNE2):c.18037A>C (p.Arg6013=) rs375971416 0.00004
NM_182914.3(SYNE2):c.18641G>A (p.Arg6214Lys) rs200152990 0.00004
NM_182914.3(SYNE2):c.19088A>G (p.Asn6363Ser) rs199566869 0.00004
NM_182914.3(SYNE2):c.19333+7G>A rs779312321 0.00004
NM_182914.3(SYNE2):c.20542C>T (p.Arg6848Cys) rs201472187 0.00004
NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu) rs201327410 0.00004
NM_182914.3(SYNE2):c.5987T>C (p.Leu1996Ser) rs780750526 0.00004
NM_182914.3(SYNE2):c.6736G>A (p.Gly2246Ser) rs774737023 0.00004
NM_182914.3(SYNE2):c.9430C>T (p.Leu3144Phe) rs886044254 0.00004
NM_182914.3(SYNE2):c.10947G>A (p.Met3649Ile) rs772140514 0.00003
NM_182914.3(SYNE2):c.14980T>C (p.Phe4994Leu) rs747348017 0.00003
NM_182914.3(SYNE2):c.15253G>A (p.Val5085Met) rs144471413 0.00003
NM_182914.3(SYNE2):c.17039G>A (p.Arg5680Gln) rs554186246 0.00003
NM_182914.3(SYNE2):c.17444G>A (p.Cys5815Tyr) rs143784708 0.00003
NM_182914.3(SYNE2):c.18963G>T (p.Leu6321=) rs757232346 0.00003
NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys) rs35763782 0.00003
NM_182914.3(SYNE2):c.20203G>A (p.Glu6735Lys) rs138789938 0.00003
NM_182914.3(SYNE2):c.418C>G (p.Leu140Val) rs761503203 0.00003
NM_182914.3(SYNE2):c.6880-4G>A rs776756586 0.00003
NM_182914.3(SYNE2):c.9252C>T (p.Ala3084=) rs200061977 0.00003
NM_182914.3(SYNE2):c.10776A>G (p.Ile3592Met) rs373340663 0.00002
NM_182914.3(SYNE2):c.12695C>T (p.Pro4232Leu) rs139959852 0.00002
NM_182914.3(SYNE2):c.12942G>A (p.Ala4314=) rs762957203 0.00002
NM_182914.3(SYNE2):c.14203G>A (p.Val4735Ile) rs538224852 0.00002
NM_182914.3(SYNE2):c.14791A>G (p.Lys4931Glu) rs145031656 0.00002
NM_182914.3(SYNE2):c.15865G>A (p.Val5289Met) rs181059522 0.00002
NM_182914.3(SYNE2):c.16760+6A>G rs756707482 0.00002
NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=) rs971473774 0.00002
NM_182914.3(SYNE2):c.18660C>T (p.His6220=) rs757875136 0.00002
NM_182914.3(SYNE2):c.19807G>A (p.Ala6603Thr) rs143077670 0.00002
NM_182914.3(SYNE2):c.4846T>C (p.Phe1616Leu) rs764521226 0.00002
NM_182914.3(SYNE2):c.6746G>A (p.Arg2249Gln) rs764036360 0.00002
NM_182914.3(SYNE2):c.8386C>T (p.Leu2796Phe) rs200570324 0.00002
NM_182914.3(SYNE2):c.8991G>A (p.Gln2997=) rs773209564 0.00002
NM_182914.3(SYNE2):c.9778C>T (p.Arg3260Cys) rs570116954 0.00002
NM_182914.3(SYNE2):c.1318C>T (p.His440Tyr) rs761844853 0.00001
NM_182914.3(SYNE2):c.16378G>A (p.Ala5460Thr) rs775169295 0.00001
NM_182914.3(SYNE2):c.16605+10A>G rs761193543 0.00001
NM_182914.3(SYNE2):c.16854G>A (p.Val5618=) rs1490325276 0.00001
NM_182914.3(SYNE2):c.17832G>A (p.Ala5944=) rs886050596 0.00001
NM_182914.3(SYNE2):c.18015T>C (p.His6005=) rs1323946751 0.00001
NM_182914.3(SYNE2):c.18393C>T (p.Ile6131=) rs370317926 0.00001
NM_182914.3(SYNE2):c.20423C>T (p.Ser6808Leu) rs372922867 0.00001
NM_182914.3(SYNE2):c.20547C>T (p.Ser6849=) rs371041220 0.00001
NM_182914.3(SYNE2):c.2493T>G (p.Ile831Met) rs754886522 0.00001
NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=) rs886050580 0.00001
NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=) rs766666230 0.00001
NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His) rs1026697162 0.00001
NM_182914.3(SYNE2):c.9700G>C (p.Glu3234Gln) rs372597797 0.00001
NM_182914.3(SYNE2):c.1129-6_1129-4del rs34440267
NM_182914.3(SYNE2):c.11944A>G (p.Asn3982Asp) rs10137972
NM_182914.3(SYNE2):c.12109-10_12109-7del rs755277543
NM_182914.3(SYNE2):c.13526G>A (p.Arg4509His) rs200946949
NM_182914.3(SYNE2):c.13707+10T>C rs61987277
NM_182914.3(SYNE2):c.14676C>T (p.His4892=) rs375987275
NM_182914.3(SYNE2):c.15290TTC[1] (p.Leu5098del) rs368230785
NM_182914.3(SYNE2):c.16328AAG[1] (p.Glu5444del) rs751691446
NM_182914.3(SYNE2):c.16479+15T>G rs80199180
NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=) rs572217007
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744
NM_182914.3(SYNE2):c.19275G>T (p.Val6425=) rs772092387
NM_182914.3(SYNE2):c.19441G>C (p.Asp6481His) rs202052357
NM_182914.3(SYNE2):c.20033G>C (p.Gly6678Ala) rs140676416
NM_182914.3(SYNE2):c.20339G>A (p.Arg6780Gln) rs202240664
NM_182914.3(SYNE2):c.2070A>G (p.Leu690=) rs79037871
NM_182914.3(SYNE2):c.2498C>G (p.Ala833Gly) rs200503488
NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp) rs370800852
NM_182914.3(SYNE2):c.4398-11T>A rs2096801796
NM_182914.3(SYNE2):c.6599A>G (p.Lys2200Arg) rs551801857
NM_182914.3(SYNE2):c.7010G>A (p.Cys2337Tyr) rs762996751
NM_182914.3(SYNE2):c.7487A>G (p.Tyr2496Cys) rs536644359

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