ClinVar Miner

List of variants in gene SYNE1 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 564
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HGVS dbSNP
NC_000006.12:g.152135003dup
NC_000006.12:g.152401437_152401438del
NC_000006.12:g.152488728dup
NC_000006.12:g.152509995del
NC_000006.12:g.152511518del
NM_033071.3(SYNE1):c.-223-10T>C rs564226533
NM_033071.3(SYNE1):c.-224+18G>A rs1221803379
NM_033071.3(SYNE1):c.10170A>G (p.Gln3390=) rs369227827
NM_033071.3(SYNE1):c.10302G>T (p.Thr3434=) rs147402839
NM_033071.3(SYNE1):c.10464+5G>A rs557835636
NM_033071.3(SYNE1):c.10746C>T (p.Leu3582=) rs1554524034
NM_033071.3(SYNE1):c.10782C>T (p.Ser3594=) rs201715967
NM_033071.3(SYNE1):c.10806C>T (p.Asn3602=) rs377049622
NM_033071.3(SYNE1):c.1083C>T (p.Phe361=) rs1057523855
NM_033071.3(SYNE1):c.10985G>A (p.Cys3662Tyr) rs148028681
NM_033071.3(SYNE1):c.11154C>G (p.Thr3718=) rs766003620
NM_033071.3(SYNE1):c.11445G>A (p.Gln3815=) rs746623465
NM_033071.3(SYNE1):c.11757G>A (p.Leu3919=) rs960254266
NM_033071.3(SYNE1):c.11886C>T (p.His3962=) rs375862387
NM_033071.3(SYNE1):c.11958G>A (p.Pro3986=) rs112128801
NM_033071.3(SYNE1):c.12012+4G>A rs770448083
NM_033071.3(SYNE1):c.12139-22T>A rs886038706
NM_033071.3(SYNE1):c.12198C>T (p.His4066=) rs751325537
NM_033071.3(SYNE1):c.12352G>A (p.Val4118Met) rs148204741
NM_033071.3(SYNE1):c.12360C>T (p.Thr4120=) rs143851739
NM_033071.3(SYNE1):c.12582-19C>A rs1057523811
NM_033071.3(SYNE1):c.1275G>T (p.Leu425=) rs777939640
NM_033071.3(SYNE1):c.1284G>A (p.Ala428=) rs949049150
NM_033071.3(SYNE1):c.13086C>T (p.His4362=) rs763090658
NM_033071.3(SYNE1):c.1326C>T (p.His442=) rs539575253
NM_033071.3(SYNE1):c.13556A>G (p.Asn4519Ser) rs199827801
NM_033071.3(SYNE1):c.13805G>A (p.Arg4602Gln) rs144963785
NM_033071.3(SYNE1):c.13866A>G (p.Gln4622=) rs778820710
NM_033071.3(SYNE1):c.14743-14T>C rs368344443
NM_033071.3(SYNE1):c.14940G>A (p.Glu4980=) rs1057524228
NM_033071.3(SYNE1):c.15186G>A (p.Ser5062=) rs761249756
NM_033071.3(SYNE1):c.15328C>T (p.Leu5110=) rs774649954
NM_033071.3(SYNE1):c.15581A>G (p.Gln5194Arg) rs797046023
NM_033071.3(SYNE1):c.15704+20C>T rs1057521479
NM_033071.3(SYNE1):c.15753G>T (p.Leu5251=) rs1207054877
NM_033071.3(SYNE1):c.15897C>A (p.His5299Gln) rs138277154
NM_033071.3(SYNE1):c.15954T>C (p.Tyr5318=) rs200796273
NM_033071.3(SYNE1):c.15999G>A (p.Ala5333=) rs150928921
NM_033071.3(SYNE1):c.16065G>A (p.Thr5355=) rs779112403
NM_033071.3(SYNE1):c.16083G>A (p.Arg5361=) rs144376043
NM_033071.3(SYNE1):c.16191A>C (p.Glu5397Asp) rs886038707
NM_033071.3(SYNE1):c.16263A>G (p.Gln5421=) rs141380170
NM_033071.3(SYNE1):c.16272G>A (p.Lys5424=) rs1554432702
NM_033071.3(SYNE1):c.16360-3C>T rs376927135
NM_033071.3(SYNE1):c.16683+12A>G rs1057522443
NM_033071.3(SYNE1):c.16771C>A (p.Arg5591Ser) rs145899734
NM_033071.3(SYNE1):c.16771C>T (p.Arg5591Cys) rs145899734
NM_033071.3(SYNE1):c.16806+16T>G rs1554410174
NM_033071.3(SYNE1):c.16905A>G (p.Leu5635=) rs1194006323
NM_033071.3(SYNE1):c.16927C>T (p.Arg5643Trp) rs202171698
NM_033071.3(SYNE1):c.17109G>T (p.Leu5703=) rs752995421
NM_033071.3(SYNE1):c.17134-16G>C rs200637611
NM_033071.3(SYNE1):c.17270C>G (p.Thr5757Arg) rs150376715
NM_033071.3(SYNE1):c.1750+8A>G rs188999515
NM_033071.3(SYNE1):c.17568G>A (p.Pro5856=) rs770484710
NM_033071.3(SYNE1):c.17730C>A (p.Ala5910=) rs201436749
NM_033071.3(SYNE1):c.17800-16A>G rs1057523334
NM_033071.3(SYNE1):c.17859C>T (p.Leu5953=) rs749375364
NM_033071.3(SYNE1):c.17973G>A (p.Ser5991=) rs1057523204
NM_033071.3(SYNE1):c.18000G>A (p.Lys6000=) rs942245024
NM_033071.3(SYNE1):c.18114G>A (p.Ala6038=) rs148518750
NM_033071.3(SYNE1):c.18408G>A (p.Thr6136=) rs754877966
NM_033071.3(SYNE1):c.18600T>C (p.Ala6200=) rs368818393
NM_033071.3(SYNE1):c.1863C>T (p.Asn621=) rs749976636
NM_033071.3(SYNE1):c.18657C>T (p.Ser6219=) rs138173087
NM_033071.3(SYNE1):c.18813C>T (p.Asp6271=) rs370053768
NM_033071.3(SYNE1):c.19321G>T (p.Ala6441Ser) rs149272010
NM_033071.3(SYNE1):c.19326T>C (p.Asn6442=) rs373347428
NM_033071.3(SYNE1):c.19360-12G>C rs200455883
NM_033071.3(SYNE1):c.19602T>A (p.Gly6534=) rs776418227
NM_033071.3(SYNE1):c.19855-20G>A rs769554267
NM_033071.3(SYNE1):c.19857G>A (p.Thr6619=) rs141263831
NM_033071.3(SYNE1):c.19929C>T (p.Ser6643=) rs201908045
NM_033071.3(SYNE1):c.19950C>T (p.Asn6650=) rs201221147
NM_033071.3(SYNE1):c.20109G>A (p.Glu6703=) rs758437949
NM_033071.3(SYNE1):c.20340C>T (p.Ala6780=) rs969664934
NM_033071.3(SYNE1):c.20650-3dupT rs755011653
NM_033071.3(SYNE1):c.20685A>G (p.Thr6895=) rs766515787
NM_033071.3(SYNE1):c.2086C>A (p.Arg696=) rs139480065
NM_033071.3(SYNE1):c.20982+12A>G rs200930593
NM_033071.3(SYNE1):c.21201C>T (p.Ala7067=) rs144904215
NM_033071.3(SYNE1):c.21227T>C (p.Met7076Thr) rs140962690
NM_033071.3(SYNE1):c.21378A>G (p.Leu7126=) rs756198608
NM_033071.3(SYNE1):c.21399C>T (p.Pro7133=) rs141170182
NM_033071.3(SYNE1):c.21426G>A (p.Leu7142=) rs886043685
NM_033071.3(SYNE1):c.21492G>A (p.Lys7164=) rs148606479
NM_033071.3(SYNE1):c.21555G>A (p.Gln7185=) rs1554226552
NM_033071.3(SYNE1):c.21612C>T (p.Ala7204=) rs746044264
NM_033071.3(SYNE1):c.21649-4C>T rs772311271
NM_033071.3(SYNE1):c.21663A>G (p.Gly7221=) rs375826346
NM_033071.3(SYNE1):c.21666G>A (p.Leu7222=) rs749164483
NM_033071.3(SYNE1):c.21738C>T (p.Ser7246=) rs368864479
NM_033071.3(SYNE1):c.21759G>T (p.Ser7253=) rs775310887
NM_033071.3(SYNE1):c.21825A>G (p.Ser7275=) rs201392317
NM_033071.3(SYNE1):c.22090C>T (p.Arg7364Cys) rs371642308
NM_033071.3(SYNE1):c.22134-9T>A rs535951024
NM_033071.3(SYNE1):c.22689G>A (p.Ser7563=) rs140577642
NM_033071.3(SYNE1):c.22933-16T>A rs1057521440
NM_033071.3(SYNE1):c.23193A>G (p.Lys7731=) rs780485635
NM_033071.3(SYNE1):c.23334A>G (p.Glu7778=) rs1057522829
NM_033071.3(SYNE1):c.23601G>A (p.Lys7867=) rs1554442128
NM_033071.3(SYNE1):c.23778G>A (p.Thr7926=) rs572195368
NM_033071.3(SYNE1):c.24012A>G (p.Ala8004=) rs910415
NM_033071.3(SYNE1):c.24100-8C>T rs201008999
NM_033071.3(SYNE1):c.24420C>T (p.Ile8140=) rs201078523
NM_033071.3(SYNE1):c.245G>T (p.Arg82Leu) rs143900928
NM_033071.3(SYNE1):c.24912C>T (p.Thr8304=) rs200678102
NM_033071.3(SYNE1):c.24942G>A (p.Thr8314=) rs377302991
NM_033071.3(SYNE1):c.24975+3A>G rs1057521423
NM_033071.3(SYNE1):c.24976-6A>G rs201898019
NM_033071.3(SYNE1):c.2508C>T (p.Asp836=) rs753367709
NM_033071.3(SYNE1):c.25102+8C>T rs760126474
NM_033071.3(SYNE1):c.25315-7T>G rs367972414
NM_033071.3(SYNE1):c.3012G>A (p.Leu1004=) rs1014746277
NM_033071.3(SYNE1):c.3859-6T>A rs549548104
NM_033071.3(SYNE1):c.3871C>T (p.Arg1291Trp) rs140780725
NM_033071.3(SYNE1):c.4029+15T>C rs368542446
NM_033071.3(SYNE1):c.4029+16T>C rs763851876
NM_033071.3(SYNE1):c.4170+9T>C rs1554706986
NM_033071.3(SYNE1):c.4399G>A (p.Val1467Ile) rs376463379
NM_033071.3(SYNE1):c.4845G>A (p.Ala1615=) rs369587906
NM_033071.3(SYNE1):c.4986C>A (p.Ala1662=) rs765695344
NM_033071.3(SYNE1):c.5013A>G (p.Leu1671=) rs187410988
NM_033071.3(SYNE1):c.5091C>G (p.Val1697=) rs146789107
NM_033071.3(SYNE1):c.5898A>G (p.Val1966=) rs1057522688
NM_033071.3(SYNE1):c.6745-14T>C rs768271718
NM_033071.3(SYNE1):c.690A>G (p.Glu230=) rs1294047431
NM_033071.3(SYNE1):c.6915C>A (p.Thr2305=) rs1554629711
NM_033071.3(SYNE1):c.7051-13T>A rs1554626730
NM_033071.3(SYNE1):c.7051-16T>C rs202040448
NM_033071.3(SYNE1):c.7239T>C (p.Ser2413=) rs947558246
NM_033071.3(SYNE1):c.7329C>T (p.Thr2443=) rs144910464
NM_033071.3(SYNE1):c.7378T>C (p.Leu2460=) rs201692204
NM_033071.3(SYNE1):c.7632G>T (p.Arg2544Ser) rs568309673
NM_033071.3(SYNE1):c.7758G>A (p.Gln2586=) rs1275065218
NM_033071.3(SYNE1):c.7818C>G (p.Ser2606=) rs748909185
NM_033071.3(SYNE1):c.7960C>T (p.Leu2654=) rs1554610128
NM_033071.3(SYNE1):c.7998C>A (p.Thr2666=) rs1032522783
NM_033071.3(SYNE1):c.8509-15T>G rs754541640
NM_033071.3(SYNE1):c.8784G>A (p.Thr2928=) rs377480628
NM_033071.3(SYNE1):c.9282C>T (p.Thr3094=) rs199554198
NM_033071.3(SYNE1):c.9396G>C (p.Leu3132=) rs376622495
NM_033071.3(SYNE1):c.9516A>G (p.Glu3172=) rs6913579
NM_033071.3(SYNE1):c.9525A>G (p.Leu3175=) rs1020832262
NM_033071.3(SYNE1):c.9528+6T>C rs372138410
NM_033071.3(SYNE1):c.9672+11C>T rs762554940
NM_033071.3(SYNE1):c.9736C>G (p.Gln3246Glu) rs149901087
NM_033071.3(SYNE1):c.9828+6G>C rs376694958
NM_033071.3(SYNE1):c.9918G>T (p.Ala3306=) rs184006845
NM_033071.3(SYNE1):c.9936A>G (p.Ser3312=) rs764114386
NM_033071.3(SYNE1):c.9981G>A (p.Thr3327=) rs747731841
NM_033071.3(SYNE1):c.9994-16G>C rs1200216933
NM_182961.3(SYNE1):c.23146-7dup rs770820426
NM_182961.4(SYNE1):c.-347C>A rs570030870
NM_182961.4(SYNE1):c.-391-9T>C rs138926036
NM_182961.4(SYNE1):c.-49C>T rs373654060
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713
NM_182961.4(SYNE1):c.10105A>G (p.Met3369Val) rs199668467
NM_182961.4(SYNE1):c.10145+12T>C rs112401775
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271
NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=) rs145287138
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898
NM_182961.4(SYNE1):c.10443+8A>G
NM_182961.4(SYNE1):c.1047+4T>A rs9397106
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met) rs143034104
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=) rs114858512
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102
NM_182961.4(SYNE1):c.10869C>T (p.Pro3623=) rs1554523565
NM_182961.4(SYNE1):c.10879C>A (p.Arg3627Ser) rs149712464
NM_182961.4(SYNE1):c.11001C>T (p.Asp3667=)
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051
NM_182961.4(SYNE1):c.1113A>G (p.Pro371=) rs374376301
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=) rs138528119
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=) rs149393972
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=) rs138882800
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala) rs115786671
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) rs74463786
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr) rs13210127
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser) rs180727534
NM_182961.4(SYNE1):c.11702G>C (p.Ser3901Thr) rs376327805
NM_182961.4(SYNE1):c.11756C>T (p.Ala3919Val) rs114367594
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=) rs144596829
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472
NM_182961.4(SYNE1):c.12079-12G>T rs73783853
NM_182961.4(SYNE1):c.12079-228C>T
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=) rs60344647
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) rs146567178
NM_182961.4(SYNE1):c.12351+303C>T
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn) rs28385621
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809
NM_182961.4(SYNE1):c.12529-12G>A rs367782368
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) rs141202420
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262
NM_182961.4(SYNE1):c.12614C>T (p.Ser4205Leu) rs140359400
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=) rs755709525
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749
NM_182961.4(SYNE1):c.13221C>T (p.Asp4407=) rs10499268
NM_182961.4(SYNE1):c.1351-80G>A
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=) rs115535983
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe) rs199701902
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096
NM_182961.4(SYNE1):c.13852C>A (p.Leu4618Ile) rs147125369
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=) rs112266645
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn) rs142388112
NM_182961.4(SYNE1):c.13986G>A (p.Lys4662=) rs17082484
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=) rs3734365
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile) rs141141950
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn) rs116000545
NM_182961.4(SYNE1):c.14115C>T (p.Ala4705=) rs377739292
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys) rs150062167
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343
NM_182961.4(SYNE1):c.14281A>G (p.Arg4761Gly) rs187910661
NM_182961.4(SYNE1):c.14380C>T (p.Leu4794=) rs138307449
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=) rs140118684
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) rs141057568
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala) rs200954103
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=) rs35085679
NM_182961.4(SYNE1):c.1497C>T (p.His499=) rs758555741
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018
NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala) rs773536890
NM_182961.4(SYNE1):c.15423A>G (p.Lys5141=)
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met) rs199996504
NM_182961.4(SYNE1):c.15469G>A (p.Glu5157Lys) rs187403476
NM_182961.4(SYNE1):c.15505C>T (p.Leu5169=)
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=) rs9383987
NM_182961.4(SYNE1):c.15657+5T>A rs199779021
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106
NM_182961.4(SYNE1):c.15917+184G>A
NM_182961.4(SYNE1):c.15918-49G>A rs117623694
NM_182961.4(SYNE1):c.16038A>G (p.Leu5346=)
NM_182961.4(SYNE1):c.16129A>C (p.Met5377Leu) rs35987150
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=) rs146705789
NM_182961.4(SYNE1):c.16237-10A>T rs201078255
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met) rs2306914
NM_182961.4(SYNE1):c.1632+11del rs763013262
NM_182961.4(SYNE1):c.1632+12G>T rs765558597
NM_182961.4(SYNE1):c.1632+6T>C rs758756977
NM_182961.4(SYNE1):c.1633-191C>T
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys) rs138745849
NM_182961.4(SYNE1):c.16737T>C (p.Ile5579=)
NM_182961.4(SYNE1):c.16923G>T (p.Leu5641Phe) rs869025528
NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=) rs200002217
NM_182961.4(SYNE1):c.17203-5del rs762047465
NM_182961.4(SYNE1):c.17203-7_17203-6del rs55633181
NM_182961.4(SYNE1):c.1729+14C>T rs76417048
NM_182961.4(SYNE1):c.1730-161A>T
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln) rs76160752
NM_182961.4(SYNE1):c.17346+7G>A rs9383985
NM_182961.4(SYNE1):c.17347-6C>T rs201692248
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422
NM_182961.4(SYNE1):c.17451G>A (p.Thr5817=) rs769954729
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=) rs148731167
NM_182961.4(SYNE1):c.17542-14A>G rs111686341
NM_182961.4(SYNE1):c.17542-7G>A rs199762799
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933
NM_182961.4(SYNE1):c.17850+19del rs1362611063
NM_182961.4(SYNE1):c.17851-100C>T
NM_182961.4(SYNE1):c.17867G>A (p.Arg5956His) rs80265744
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=) rs141424852
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=) rs146238726
NM_182961.4(SYNE1):c.18114G>A (p.Ala6038=) rs149923357
NM_182961.4(SYNE1):c.18153C>T (p.Ala6051=) rs201090220
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe) rs138039375
NM_182961.4(SYNE1):c.18382-19_18382-17dup rs1379525352
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe) rs140135976
NM_182961.4(SYNE1):c.18574-13T>C rs148664724
NM_182961.4(SYNE1):c.18615A>G (p.Thr6205=) rs552884641
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=) rs116007471
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu) rs140090745
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe) rs141934037
NM_182961.4(SYNE1):c.19260+224T>C
NM_182961.4(SYNE1):c.19471-19C>A
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960
NM_182961.4(SYNE1):c.19554C>T (p.Pro6518=) rs780644969
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509
NM_182961.4(SYNE1):c.19689C>A (p.Leu6563=) rs372285648
NM_182961.4(SYNE1):c.19692+3G>A rs150304757
NM_182961.4(SYNE1):c.19693-15G>A rs187885923
NM_182961.4(SYNE1):c.19698G>T (p.Met6566Ile) rs35654757
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417
NM_182961.4(SYNE1):c.19894-135G>C
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=) rs143118084
NM_182961.4(SYNE1):c.19989T>C (p.His6663=) rs61746395
NM_182961.4(SYNE1):c.19991C>T (p.Thr6664Ile) rs35079654
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln) rs190673256
NM_182961.4(SYNE1):c.20067+201T>G
NM_182961.4(SYNE1):c.20068-35dup rs36215566
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met) rs143674856
NM_182961.4(SYNE1):c.20199+16C>T rs114739771
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=) rs142327194
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=) rs73619386
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=) rs138628147
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=) rs367864272
NM_182961.4(SYNE1):c.2098-29C>T rs7775181
NM_182961.4(SYNE1):c.2098-50G>A rs7776344
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln) rs143639400
NM_182961.4(SYNE1):c.21195+164A>T
NM_182961.4(SYNE1):c.21330C>T (p.Thr7110=) rs75469773
NM_182961.4(SYNE1):c.21351+43C>T
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His) rs34963077
NM_182961.4(SYNE1):c.21474G>A (p.Leu7158=) rs370065996
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338
NM_182961.4(SYNE1):c.21522+29C>T
NM_182961.4(SYNE1):c.21523-8T>G rs187773880
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=) rs138032057
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=) rs35106977
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr) rs145494541
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=) rs148556501
NM_182961.4(SYNE1):c.22191+169C>A
NM_182961.4(SYNE1):c.2220G>A (p.Met740Ile) rs146001055
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His) rs200135486
NM_182961.4(SYNE1):c.22263C>T (p.Pro7421=) rs774062465
NM_182961.4(SYNE1):c.22281C>A (p.Ile7427=) rs139362680
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) rs34891041
NM_182961.4(SYNE1):c.2247G>A (p.Leu749=) rs201537074
NM_182961.4(SYNE1):c.22495-17dup rs767966157
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825
NM_182961.4(SYNE1):c.226-120A>G
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=) rs34630198
NM_182961.4(SYNE1):c.22824+19T>C
NM_182961.4(SYNE1):c.22825-289C>T
NM_182961.4(SYNE1):c.22910G>C (p.Ser7637Thr) rs201497427
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp) rs142117628
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val) rs150589796
NM_182961.4(SYNE1):c.23019+108C>T
NM_182961.4(SYNE1):c.23019+48G>A rs116292261
NM_182961.4(SYNE1):c.23139T>C (p.Arg7713=) rs899533876
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771
NM_182961.4(SYNE1):c.23461-250G>A
NM_182961.4(SYNE1):c.23461-287A>G
NM_182961.4(SYNE1):c.23461-6A>C rs145098375
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly) rs141315921
NM_182961.4(SYNE1):c.23628-45T>C rs144803689
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys) rs148997223
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn) rs76699382
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=) rs377113267
NM_182961.4(SYNE1):c.23791-13C>T rs371245873
NM_182961.4(SYNE1):c.23791-262A>G
NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=) rs767628258
NM_182961.4(SYNE1):c.2395-304G>A
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile) rs199670962
NM_182961.4(SYNE1):c.24162G>A (p.Thr8054=) rs185088779
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=) rs371204427
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser) rs17082236
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566
NM_182961.4(SYNE1):c.24642+3A>G rs117346210
NM_182961.4(SYNE1):c.24660C>T (p.His8220=) rs150811468
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln) rs201548223
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001
NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln) rs201029723
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368
NM_182961.4(SYNE1):c.24861C>T (p.His8287=) rs202207154
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln) rs148008634
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755
NM_182961.4(SYNE1):c.24977-1678T>G rs74709220
NM_182961.4(SYNE1):c.24977-1718G>A rs370143116
NM_182961.4(SYNE1):c.24977-1786A>G rs377088951
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170
NM_182961.4(SYNE1):c.25246+17C>T rs772625869
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys) rs34610829
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988
NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=) rs201344762
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542
NM_182961.4(SYNE1):c.26002-205C>T
NM_182961.4(SYNE1):c.26002-4A>G rs77220999
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile) rs35591210
NM_182961.4(SYNE1):c.26094+151C>A
NM_182961.4(SYNE1):c.26095-294T>C
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=) rs765865910
NM_182961.4(SYNE1):c.26153+18T>A rs1057523744
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val) rs17082709
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012
NM_182961.4(SYNE1):c.2881C>T (p.Arg961Trp) rs201146062
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638
NM_182961.4(SYNE1):c.2892+21A>G
NM_182961.4(SYNE1):c.297C>T (p.Leu99=) rs1355556442
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys) rs148346599
NM_182961.4(SYNE1):c.3027+17C>T rs375786325
NM_182961.4(SYNE1):c.3087T>C (p.Asn1029=) rs770801617
NM_182961.4(SYNE1):c.309+14A>G rs368595280
NM_182961.4(SYNE1):c.310-449A>T rs759834506
NM_182961.4(SYNE1):c.310-468G>A rs143635963
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976
NM_182961.4(SYNE1):c.3120T>A (p.Thr1040=) rs147176678
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp) rs147841761
NM_182961.4(SYNE1):c.3306C>T (p.His1102=) rs17082701
NM_182961.4(SYNE1):c.336C>T (p.Thr112=)
NM_182961.4(SYNE1):c.3395+17C>T rs183904423
NM_182961.4(SYNE1):c.3396-17T>A rs144838502
NM_182961.4(SYNE1):c.3500T>C (p.Val1167Ala) rs555800735
NM_182961.4(SYNE1):c.3504+23C>T
NM_182961.4(SYNE1):c.3669+10T>C rs187598275
NM_182961.4(SYNE1):c.3669+4C>G rs376511242
NM_182961.4(SYNE1):c.3670-4A>G
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103
NM_182961.4(SYNE1):c.3838-248C>G
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=) rs754584363
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val) rs35378260
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys) rs200276242
NM_182961.4(SYNE1):c.3936G>C (p.Glu1312Asp) rs200763530
NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln) rs201144728
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=) rs138705766
NM_182961.4(SYNE1):c.4008+19G>A rs202076757
NM_182961.4(SYNE1):c.4009-322T>G
NM_182961.4(SYNE1):c.402+11A>G rs80276170
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp) rs34028822
NM_182961.4(SYNE1):c.4311-286T>G
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=) rs138264334
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln) rs369775705
NM_182961.4(SYNE1):c.462C>T (p.Ser154=)
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624
NM_182961.4(SYNE1):c.4788+26_4788+28del rs71659863
NM_182961.4(SYNE1):c.4789-13G>A rs142900784
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999
NM_182961.4(SYNE1):c.4884G>A (p.Glu1628=) rs886042121
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273
NM_182961.4(SYNE1):c.4976+115dup
NM_182961.4(SYNE1):c.5101-11G>T rs375142982
NM_182961.4(SYNE1):c.5101-169G>A
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys) rs140005424
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp) rs150702500
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu) rs111250109
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177
NM_182961.4(SYNE1):c.5268-185T>C
NM_182961.4(SYNE1):c.5268-206A>T
NM_182961.4(SYNE1):c.5421+292C>T
NM_182961.4(SYNE1):c.5421+9G>T rs376218204
NM_182961.4(SYNE1):c.5421+9del rs774622835
NM_182961.4(SYNE1):c.5422-282T>C
NM_182961.4(SYNE1):c.5429C>T (p.Ala1810Val) rs76393834
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=) rs118022241
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg) rs112744561
NM_182961.4(SYNE1):c.581+10A>G rs771573516
NM_182961.4(SYNE1):c.581+18G>A rs111309750
NM_182961.4(SYNE1):c.582-9A>G rs200412221
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258
NM_182961.4(SYNE1):c.6021A>G (p.Lys2007=) rs533039765
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265
NM_182961.4(SYNE1):c.6230+234A>G
NM_182961.4(SYNE1):c.6254T>C (p.Ile2085Thr) rs577979265
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123
NM_182961.4(SYNE1):c.6381+126A>G
NM_182961.4(SYNE1):c.6382-11T>C rs769649824
NM_182961.4(SYNE1):c.6382-63A>G
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284
NM_182961.4(SYNE1):c.6541-135A>G
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=) rs185829704
NM_182961.4(SYNE1):c.666G>A (p.Pro222=) rs141368652
NM_182961.4(SYNE1):c.67+17del rs1064794872
NM_182961.4(SYNE1):c.6826-6A>G rs183683592
NM_182961.4(SYNE1):c.6889G>A (p.Gly2297Arg) rs117184249
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884
NM_182961.4(SYNE1):c.6946A>G (p.Ile2316Val) rs116721144
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=) rs140986546
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val) rs147947903
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala) rs199558070
NM_182961.4(SYNE1):c.7238-11T>C rs200802315
NM_182961.4(SYNE1):c.7350+156A>C
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys) rs149030452
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=) rs139070088
NM_182961.4(SYNE1):c.7556+14A>G rs78034368
NM_182961.4(SYNE1):c.7557-287G>A
NM_182961.4(SYNE1):c.7647C>T (p.His2549=) rs113163375
NM_182961.4(SYNE1):c.7713-4T>C rs571742202
NM_182961.4(SYNE1):c.7713-5T>C
NM_182961.4(SYNE1):c.7854C>T (p.Ser2618=) rs79449810
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635
NM_182961.4(SYNE1):c.8004+142G>A
NM_182961.4(SYNE1):c.8005-3C>T rs117084693
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro) rs147870520
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=) rs58905396
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241
NM_182961.4(SYNE1):c.8177+9C>T rs56877632
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys) rs145195048
NM_182961.4(SYNE1):c.8238G>A (p.Glu2746=)
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met) rs142676206
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=) rs114747836
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=) rs757104773
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala) rs77853132
NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=)
NM_182961.4(SYNE1):c.8652+307G>A
NM_182961.4(SYNE1):c.8653-19T>C
NM_182961.4(SYNE1):c.866G>C (p.Ser289Thr) rs139190745
NM_182961.4(SYNE1):c.8844C>T (p.Val2948=)
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389
NM_182961.4(SYNE1):c.9117A>C (p.Lys3039Asn) rs77221231
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=) rs117020413
NM_182961.4(SYNE1):c.9325-174G>T
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg) rs566953005
NM_182961.4(SYNE1):c.939+14A>T rs531123529
NM_182961.4(SYNE1):c.940-234_940-232dup
NM_182961.4(SYNE1):c.9420G>A (p.Ala3140=) rs188913729
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711
NM_182961.4(SYNE1):c.9507+19A>G rs200381107
NM_182961.4(SYNE1):c.9542G>A (p.Ser3181Asn) rs140508714
NM_182961.4(SYNE1):c.9651+12G>A rs143173603
NM_182961.4(SYNE1):c.9651+20G>A rs200951972
NM_182961.4(SYNE1):c.9764C>T (p.Ser3255Leu) rs114954026
NM_182961.4(SYNE1):c.9807+14C>G rs182453040
NM_182961.4(SYNE1):c.9807+5C>T rs185350092
NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met) rs150912982
NM_182961.4(SYNE1):c.9891G>A (p.Thr3297=) rs200222988
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=) rs73626656

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