ClinVar Miner

Variants with conflicting interpretations studied for Emery-Dreifuss muscular dystrophy

Coded as:
Minimum review status of the submission for Emery-Dreifuss muscular dystrophy: Y axis collection method of the submission for Emery-Dreifuss muscular dystrophy:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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 Variants with at least 2 submissions 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 kind of conflict
282 237 0 243 152 0 4 378

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.

All conditions
Emery-Dreifuss muscular dystrophy pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 0 1 0 16 1
likely benign 2 1 135 0 184
benign 0 0 0 59 0

Condition to condition summary #

Total conditions: 13
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not specified 0 147 0 174 40 0 0 207
not provided 0 70 0 33 105 0 0 134
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 58 0 80 22 0 0 102
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 57 0 69 21 0 1 90
Cardiomyopathy 0 8 0 6 0 0 0 6
Charcot-Marie-Tooth disease, type 2 0 26 0 6 0 0 0 6
Cardiovascular phenotype 0 7 0 2 0 0 0 2
Abnormality of brain morphology 0 0 0 0 0 0 1 1
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 2 0 0 0 0 1 1
Familial dilated cardiomyopathy 0 0 0 0 0 0 1 1
Intellectual functioning disability 0 0 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 1 0 1 0 0 0 1
Spinocerebellar ataxia, autosomal recessive 8 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 378
Download table as spreadsheet
HGVS dbSNP
NM_005572.3(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_005572.3(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_005572.3(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_005572.3(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_005572.3(LMNA):c.294G>A (p.Glu98=) rs886045363
NM_005572.3(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_005572.3(LMNA):c.861T>C (p.Ala287=) rs538089
NM_005572.3(LMNA):c.936+12C>T rs199881992
NM_033071.3(SYNE1):c.-49C>T rs373654060
NM_033071.3(SYNE1):c.10043T>C (p.Val3348Ala) rs138693624
NM_033071.3(SYNE1):c.10058C>A (p.Ser3353Tyr) rs150170988
NM_033071.3(SYNE1):c.10077T>C (p.Ser3359=) rs140861713
NM_033071.3(SYNE1):c.10166+12T>C rs112401775
NM_033071.3(SYNE1):c.10170A>G (p.Gln3390=) rs369227827
NM_033071.3(SYNE1):c.10212C>A (p.Gly3404=) rs4407724
NM_033071.3(SYNE1):c.10228G>A (p.Gly3410Ser) rs116758271
NM_033071.3(SYNE1):c.10281G>A (p.Ala3427=) rs145287138
NM_033071.3(SYNE1):c.10302G>T (p.Thr3434=) rs147402839
NM_033071.3(SYNE1):c.10417C>G (p.Leu3473Val) rs150637898
NM_033071.3(SYNE1):c.10543T>C (p.Leu3515=) rs62426382
NM_033071.3(SYNE1):c.1059T>C (p.Asp353=) rs144105769
NM_033071.3(SYNE1):c.10619G>A (p.Arg3540His) rs145911138
NM_033071.3(SYNE1):c.1068+4T>A rs9397106
NM_033071.3(SYNE1):c.10807G>A (p.Val3603Met) rs143034104
NM_033071.3(SYNE1):c.10848A>C (p.Gln3616His) rs79486252
NM_033071.3(SYNE1):c.10881+6T>C rs9397102
NM_033071.3(SYNE1):c.11082A>G (p.Glu3694=) rs149260051
NM_033071.3(SYNE1):c.11142G>T (p.Lys3714Asn) rs143070183
NM_033071.3(SYNE1):c.11151T>C (p.Ala3717=) rs138528119
NM_033071.3(SYNE1):c.11173A>G (p.Thr3725Ala) rs144797744
NM_033071.3(SYNE1):c.11193A>G (p.Lys3731=) rs149393972
NM_033071.3(SYNE1):c.11310G>A (p.Arg3770=) rs151081036
NM_033071.3(SYNE1):c.1134A>G (p.Pro378=) rs374376301
NM_033071.3(SYNE1):c.11385G>A (p.Thr3795=) rs137919524
NM_033071.3(SYNE1):c.11576A>C (p.Lys3859Thr) rs13210127
NM_033071.3(SYNE1):c.1162G>A (p.Asp388Asn) rs146366996
NM_033071.3(SYNE1):c.11630T>C (p.Leu3877Ser) rs180727534
NM_033071.3(SYNE1):c.11787G>A (p.Ala3929=) rs148493518
NM_033071.3(SYNE1):c.11844G>A (p.Ala3948=) rs144596829
NM_033071.3(SYNE1):c.11848T>C (p.Cys3950Arg) rs111449472
NM_033071.3(SYNE1):c.11866-12G>T rs73783853
NM_033071.3(SYNE1):c.11886C>T (p.His3962=) rs375862387
NM_033071.3(SYNE1):c.11925G>A (p.Gln3975=) rs60344647
NM_033071.3(SYNE1):c.11967G>T (p.Glu3989Asp) rs4645434
NM_033071.3(SYNE1):c.12012+4G>A rs770448083
NM_033071.3(SYNE1):c.12063C>T (p.Leu4021=) rs71575926
NM_033071.3(SYNE1):c.12149A>G (p.Lys4050Arg) rs9479297
NM_033071.3(SYNE1):c.12150G>T (p.Lys4050Asn) rs28385621
NM_033071.3(SYNE1):c.12229G>C (p.Asp4077His) rs117501809
NM_033071.3(SYNE1):c.12351C>T (p.Ser4117=) rs141202420
NM_033071.3(SYNE1):c.12352G>A (p.Val4118Met) rs148204741
NM_033071.3(SYNE1):c.12394G>A (p.Glu4132Lys) rs2130262
NM_033071.3(SYNE1):c.12888C>T (p.Ile4296=) rs140136749
NM_033071.3(SYNE1):c.13008C>T (p.Asp4336=) rs10499268
NM_033071.3(SYNE1):c.13341C>T (p.Arg4447=) rs115535983
NM_033071.3(SYNE1):c.13359C>T (p.Val4453=) rs111511993
NM_033071.3(SYNE1):c.13423G>A (p.Val4475Ile) rs4870093
NM_033071.3(SYNE1):c.13511G>T (p.Cys4504Phe) rs199701902
NM_033071.3(SYNE1):c.13573T>A (p.Ser4525Thr) rs6911096
NM_033071.3(SYNE1):c.13639C>A (p.Leu4547Ile) rs147125369
NM_033071.3(SYNE1):c.13650G>A (p.Thr4550=) rs112266645
NM_033071.3(SYNE1):c.13696G>A (p.Asp4566Asn) rs142388112
NM_033071.3(SYNE1):c.13773G>A (p.Lys4591=) rs17082484
NM_033071.3(SYNE1):c.13805G>A (p.Arg4602Gln) rs144963785
NM_033071.3(SYNE1):c.13848G>C (p.Leu4616=) rs3734365
NM_033071.3(SYNE1):c.13894G>A (p.Asp4632Asn) rs116000545
NM_033071.3(SYNE1):c.13950C>T (p.Asp4650=) rs3734366
NM_033071.3(SYNE1):c.14050C>T (p.Leu4684Phe) rs41301343
NM_033071.3(SYNE1):c.14167C>T (p.Leu4723=) rs138307449
NM_033071.3(SYNE1):c.14239T>A (p.Tyr4747Asn) rs142422990
NM_033071.3(SYNE1):c.14556A>G (p.Glu4852=) rs141057568
NM_033071.3(SYNE1):c.14704C>T (p.Leu4902=) rs35085679
NM_033071.3(SYNE1):c.14830T>A (p.Leu4944Met) rs2306916
NM_033071.3(SYNE1):c.15100G>A (p.Asp5034Asn) rs35493783
NM_033071.3(SYNE1):c.15124G>A (p.Val5042Ile) rs139170018
NM_033071.3(SYNE1):c.15164A>C (p.Glu5055Ala) rs773536890
NM_033071.3(SYNE1):c.15384C>G (p.Ala5128=) rs9383987
NM_033071.3(SYNE1):c.15444+5T>A rs199779021
NM_033071.3(SYNE1):c.156T>C (p.Asp52=) rs139156106
NM_033071.3(SYNE1):c.15897C>A (p.His5299Gln) rs138277154
NM_033071.3(SYNE1):c.15916A>C (p.Met5306Leu) rs35987150
NM_033071.3(SYNE1):c.15969T>G (p.Ser5323=) rs146705789
NM_033071.3(SYNE1):c.16064C>T (p.Thr5355Met) rs2306914
NM_033071.3(SYNE1):c.16083G>A (p.Arg5361=) rs144376043
NM_033071.3(SYNE1):c.16263A>G (p.Gln5421=) rs141380170
NM_033071.3(SYNE1):c.16771C>T (p.Arg5591Cys) rs145899734
NM_033071.3(SYNE1):c.16927C>T (p.Arg5643Trp) rs202171698
NM_033071.3(SYNE1):c.16994-11_16994-10delTT rs55633181
NM_033071.3(SYNE1):c.17126G>A (p.Arg5709Gln) rs76160752
NM_033071.3(SYNE1):c.17133+7G>A rs9383985
NM_033071.3(SYNE1):c.17205G>A (p.Thr5735=) rs17082422
NM_033071.3(SYNE1):c.17292C>T (p.Leu5764=) rs148731167
NM_033071.3(SYNE1):c.17329-7G>A rs199762799
NM_033071.3(SYNE1):c.17532C>T (p.His5844=) rs12664753
NM_033071.3(SYNE1):c.17584G>A (p.Ala5862Thr) rs113962905
NM_033071.3(SYNE1):c.17614T>C (p.Ser5872Pro) rs147998933
NM_033071.3(SYNE1):c.17654G>A (p.Arg5885His) rs80265744
NM_033071.3(SYNE1):c.17972C>T (p.Ser5991Leu) rs139790539
NM_033071.3(SYNE1):c.1815A>C (p.Ser605=) rs141424852
NM_033071.3(SYNE1):c.18576G>A (p.Ser6192=) rs150905950
NM_033071.3(SYNE1):c.18588C>T (p.Thr6196=) rs116007471
NM_033071.3(SYNE1):c.1859C>T (p.Ser620Phe) rs140135976
NM_033071.3(SYNE1):c.18668A>T (p.Gln6223Leu) rs140090745
NM_033071.3(SYNE1):c.18786G>C (p.Leu6262Phe) rs141934037
NM_033071.3(SYNE1):c.1899A>G (p.Gln633=) rs62427038
NM_033071.3(SYNE1):c.19321G>T (p.Ala6441Ser) rs149272010
NM_033071.3(SYNE1):c.19479+3G>A rs150304757
NM_033071.3(SYNE1):c.19485G>T (p.Met6495Ile) rs35654757
NM_033071.3(SYNE1):c.19776T>C (p.His6592=) rs61746395
NM_033071.3(SYNE1):c.1985A>G (p.Gln662Arg) rs9397509
NM_033071.3(SYNE1):c.2004C>T (p.Asn668=) rs149670417
NM_033071.3(SYNE1):c.20076A>G (p.Ser6692=) rs142327194
NM_033071.3(SYNE1):c.20358A>T (p.Ser6786=) rs34905593
NM_033071.3(SYNE1):c.20517G>C (p.Leu6839=) rs367864272
NM_033071.3(SYNE1):c.2086C>A (p.Arg696=) rs139480065
NM_033071.3(SYNE1):c.20936G>A (p.Arg6979Gln) rs143639400
NM_033071.3(SYNE1):c.21227T>C (p.Met7076Thr) rs140962690
NM_033071.3(SYNE1):c.21310-8T>G rs187773880
NM_033071.3(SYNE1):c.21399C>T (p.Pro7133=) rs141170182
NM_033071.3(SYNE1):c.21691T>G (p.Phe7231Val) rs2147377
NM_033071.3(SYNE1):c.21711G>A (p.Glu7237=) rs371017408
NM_033071.3(SYNE1):c.21739G>A (p.Ala7247Thr) rs145494541
NM_033071.3(SYNE1):c.21855C>T (p.Thr7285=) rs35686213
NM_033071.3(SYNE1):c.21924C>T (p.Asp7308=) rs148556501
NM_033071.3(SYNE1):c.2198A>G (p.Glu733Gly) rs35297226
NM_033071.3(SYNE1):c.22068C>A (p.Ile7356=) rs139362680
NM_033071.3(SYNE1):c.22090C>T (p.Arg7364Cys) rs371642308
NM_033071.3(SYNE1):c.22239A>G (p.Ser7413=) rs36044575
NM_033071.3(SYNE1):c.22260G>A (p.Leu7420=) rs34891041
NM_033071.3(SYNE1):c.22303A>G (p.Ser7435Gly) rs35763277
NM_033071.3(SYNE1):c.22341G>A (p.Gly7447=) rs148240825
NM_033071.3(SYNE1):c.2241G>A (p.Met747Ile) rs146001055
NM_033071.3(SYNE1):c.22458C>T (p.Ile7486=) rs3798756
NM_033071.3(SYNE1):c.22596C>T (p.Leu7532=) rs34630198
NM_033071.3(SYNE1):c.22697G>C (p.Ser7566Thr) rs201497427
NM_033071.3(SYNE1):c.22700G>A (p.Gly7567Asp) rs142117628
NM_033071.3(SYNE1):c.22789C>G (p.Leu7597Val) rs150589796
NM_033071.3(SYNE1):c.23046C>T (p.Arg7682=) rs139590550
NM_033071.3(SYNE1):c.23102G>A (p.Arg7701Gln) rs138787771
NM_033071.3(SYNE1):c.23248-6A>C rs145098375
NM_033071.3(SYNE1):c.23530G>A (p.Asp7844Asn) rs76699382
NM_033071.3(SYNE1):c.24012A>G (p.Ala8004=) rs910415
NM_033071.3(SYNE1):c.24136C>T (p.Arg8046Trp) rs144056525
NM_033071.3(SYNE1):c.2416G>A (p.Val806Ile) rs199670962
NM_033071.3(SYNE1):c.24289G>T (p.Ala8097Ser) rs17082236
NM_033071.3(SYNE1):c.24342C>T (p.Ile8114=) rs201799566
NM_033071.3(SYNE1):c.24447C>T (p.His8149=) rs150811468
NM_033071.3(SYNE1):c.24504C>G (p.His8168Gln) rs201548223
NM_033071.3(SYNE1):c.245G>T (p.Arg82Leu) rs143900928
NM_033071.3(SYNE1):c.24602G>A (p.Arg8201Gln) rs201029723
NM_033071.3(SYNE1):c.24612G>A (p.Pro8204=) rs2252748
NM_033071.3(SYNE1):c.24614C>G (p.Ala8205Gly) rs142985368
NM_033071.3(SYNE1):c.24739C>T (p.Leu8247Phe) rs141716975
NM_033071.3(SYNE1):c.24743G>A (p.Arg8248Gln) rs148008634
NM_033071.3(SYNE1):c.24755G>C (p.Gly8252Ala) rs2252755
NM_033071.3(SYNE1):c.24894T>C (p.Arg8298=) rs2256135
NM_033071.3(SYNE1):c.24976-6A>G rs201898019
NM_033071.3(SYNE1):c.25002C>T (p.Ser8334=) rs151034170
NM_033071.3(SYNE1):c.25237G>A (p.Glu8413Lys) rs119103248
NM_033071.3(SYNE1):c.2548C>T (p.Arg850Cys) rs34610829
NM_033071.3(SYNE1):c.25712T>C (p.Leu8571Pro) rs139834542
NM_033071.3(SYNE1):c.25858-4A>G rs77220999
NM_033071.3(SYNE1):c.25916C>T (p.Thr8639Ile) rs35591210
NM_033071.3(SYNE1):c.26060G>A (p.Arg8687Gln) rs2295192
NM_033071.3(SYNE1):c.26065G>A (p.Gly8689Ser) rs2295191
NM_033071.3(SYNE1):c.26077C>A (p.Leu8693Met) rs2295190
NM_033071.3(SYNE1):c.26154A>G (p.Pro8718=) rs200880341
NM_033071.3(SYNE1):c.2674T>G (p.Leu892Val) rs17082709
NM_033071.3(SYNE1):c.2718A>G (p.Arg906=) rs75817012
NM_033071.3(SYNE1):c.2903G>A (p.Arg968Gln) rs76646638
NM_033071.3(SYNE1):c.3016G>A (p.Glu1006Lys) rs148346599
NM_033071.3(SYNE1):c.3125T>C (p.Val1042Ala) rs214976
NM_033071.3(SYNE1):c.3292C>T (p.Arg1098Trp) rs147841761
NM_033071.3(SYNE1):c.330G>A (p.Pro110=) rs143635963
NM_033071.3(SYNE1):c.3327C>T (p.His1109=) rs17082701
NM_033071.3(SYNE1):c.3825G>A (p.Leu1275=) rs139524103
NM_033071.3(SYNE1):c.3900G>A (p.Gln1300=) rs754584363
NM_033071.3(SYNE1):c.3911C>T (p.Ala1304Val) rs35378260
NM_033071.3(SYNE1):c.3973G>C (p.Glu1325Gln) rs201144728
NM_033071.3(SYNE1):c.3981A>G (p.Thr1327=) rs138705766
NM_033071.3(SYNE1):c.4029+15T>C rs368542446
NM_033071.3(SYNE1):c.4052G>A (p.Arg1351Gln) rs144566713
NM_033071.3(SYNE1):c.4128T>A (p.Phe1376Leu) rs149109801
NM_033071.3(SYNE1):c.423+11A>G rs80276170
NM_033071.3(SYNE1):c.4399G>A (p.Val1467Ile) rs376463379
NM_033071.3(SYNE1):c.4617C>T (p.Tyr1539=) rs138264334
NM_033071.3(SYNE1):c.4631G>A (p.Arg1544Gln) rs369775705
NM_033071.3(SYNE1):c.4778C>A (p.Thr1593Lys) rs77675624
NM_033071.3(SYNE1):c.4810-13G>A rs142900784
NM_033071.3(SYNE1):c.4843G>A (p.Ala1615Thr) rs138617999
NM_033071.3(SYNE1):c.4910C>T (p.Ala1637Val) rs566004273
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.5122G>T (p.Ala1708Ser) rs149758808
NM_033071.3(SYNE1):c.5146C>A (p.Gln1716Lys) rs140005424
NM_033071.3(SYNE1):c.5150C>A (p.Ala1717Asp) rs150702500
NM_033071.3(SYNE1):c.5211T>A (p.Asp1737Glu) rs111250109
NM_033071.3(SYNE1):c.5280T>C (p.Ile1760=) rs147508177
NM_033071.3(SYNE1):c.5442+9G>T rs376218204
NM_033071.3(SYNE1):c.5450C>T (p.Ala1817Val) rs76393834
NM_033071.3(SYNE1):c.603-9A>G rs200412221
NM_033071.3(SYNE1):c.6156T>G (p.Ile2052Met) rs116600265
NM_033071.3(SYNE1):c.6275T>C (p.Ile2092Thr) rs577979265
NM_033071.3(SYNE1):c.6491A>G (p.Lys2164Arg) rs75989452
NM_033071.3(SYNE1):c.6542C>T (p.Thr2181Ile) rs141858284
NM_033071.3(SYNE1):c.6669C>T (p.Cys2223=) rs185829704
NM_033071.3(SYNE1):c.6847-6A>G rs183683592
NM_033071.3(SYNE1):c.6910G>A (p.Gly2304Arg) rs117184249
NM_033071.3(SYNE1):c.6929C>T (p.Thr2310Met) rs190867604
NM_033071.3(SYNE1):c.6990G>A (p.Val2330=) rs140986546
NM_033071.3(SYNE1):c.7177A>G (p.Ile2393Val) rs147947903
NM_033071.3(SYNE1):c.7329C>T (p.Thr2443=) rs144910464
NM_033071.3(SYNE1):c.7479A>G (p.Gln2493=) rs139070088
NM_033071.3(SYNE1):c.7577+14A>G rs78034368
NM_033071.3(SYNE1):c.7632G>T (p.Arg2544Ser) rs568309673
NM_033071.3(SYNE1):c.7734-4T>C rs571742202
NM_033071.3(SYNE1):c.7875C>T (p.Ser2625=) rs79449810
NM_033071.3(SYNE1):c.7997C>A (p.Thr2666Asn) rs117480635
NM_033071.3(SYNE1):c.8026-3C>T rs117084693
NM_033071.3(SYNE1):c.8184C>T (p.Ser2728=) rs58905396
NM_033071.3(SYNE1):c.8185G>A (p.Val2729Ile) rs151091241
NM_033071.3(SYNE1):c.8198+9C>T rs56877632
NM_033071.3(SYNE1):c.8357T>G (p.Ile2786Ser) rs77121899
NM_033071.3(SYNE1):c.8405C>T (p.Ala2802Val) rs214950
NM_033071.3(SYNE1):c.8578A>G (p.Thr2860Ala) rs77853132
NM_033071.3(SYNE1):c.8994G>A (p.Thr2998=) rs146424389
NM_033071.3(SYNE1):c.9169C>G (p.Leu3057Val) rs117360770
NM_033071.3(SYNE1):c.9186C>A (p.Ser3062=) rs117020413
NM_033071.3(SYNE1):c.9282C>T (p.Thr3094=) rs199554198
NM_033071.3(SYNE1):c.9510A>G (p.Gln3170=) rs35379711
NM_033071.3(SYNE1):c.9516A>G (p.Glu3172=) rs6913579
NM_033071.3(SYNE1):c.9736C>G (p.Gln3246Glu) rs149901087
NM_033071.3(SYNE1):c.9785C>T (p.Ser3262Leu) rs114954026
NM_033071.3(SYNE1):c.9828+5C>T rs185350092
NM_033071.3(SYNE1):c.9911C>T (p.Thr3304Met) rs150912982
NM_033071.3(SYNE1):c.9975C>T (p.Ser3325=) rs73626656
NM_033071.3(SYNE1):c.9981G>A (p.Thr3327=) rs747731841
NM_170707.3(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.3(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.3(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.3(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.3(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.3(LMNA):c.811-13T>A rs80356809
NM_182914.2(SYNE2):c.10196G>A (p.Arg3399His) rs36039501
NM_182914.2(SYNE2):c.10269C>G (p.Ile3423Met) rs35920722
NM_182914.2(SYNE2):c.10494A>G (p.Thr3498=) rs201000414
NM_182914.2(SYNE2):c.10567A>C (p.Lys3523Gln) rs35203186
NM_182914.2(SYNE2):c.10835A>G (p.Gln3612Arg) rs78110192
NM_182914.2(SYNE2):c.11313G>C (p.Gln3771His) rs144596211
NM_182914.2(SYNE2):c.11379T>C (p.Leu3793=) rs149391344
NM_182914.2(SYNE2):c.11385G>A (p.Lys3795=) rs34954189
NM_182914.2(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054
NM_182914.2(SYNE2):c.11671-4C>A rs193068394
NM_182914.2(SYNE2):c.11935C>G (p.Leu3979Val) rs76576553
NM_182914.2(SYNE2):c.11944A>G (p.Asn3982Asp) rs10137972
NM_182914.2(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205
NM_182914.2(SYNE2):c.12001_12002invTG (p.Trp4001Gln)
NM_182914.2(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377
NM_182914.2(SYNE2):c.12043T>C (p.Tyr4015His) rs75665958
NM_182914.2(SYNE2):c.12122G>A (p.Arg4041His) rs17101661
NM_182914.2(SYNE2):c.12190G>A (p.Val4064Ile) rs144164967
NM_182914.2(SYNE2):c.12370G>T (p.Val4124Leu) rs370255444
NM_182914.2(SYNE2):c.12378C>T (p.Ser4126=) rs36007735
NM_182914.2(SYNE2):c.12596A>G (p.Asn4199Ser) rs35223918
NM_182914.2(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235
NM_182914.2(SYNE2):c.12626T>C (p.Ile4209Thr) rs61747118
NM_182914.2(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737
NM_182914.2(SYNE2):c.13254C>A (p.Asn4418Lys) rs36021513
NM_182914.2(SYNE2):c.13266G>A (p.Gln4422=) rs34944385
NM_182914.2(SYNE2):c.13280+3A>G rs113145581
NM_182914.2(SYNE2):c.13526G>A (p.Arg4509His) rs200946949
NM_182914.2(SYNE2):c.13689C>T (p.Gly4563=) rs186567969
NM_182914.2(SYNE2):c.13707+10T>C rs61987277
NM_182914.2(SYNE2):c.13918-6T>C rs187859624
NM_182914.2(SYNE2):c.14057A>G (p.Glu4686Gly) rs10133691
NM_182914.2(SYNE2):c.14197C>A (p.Pro4733Thr) rs75568433
NM_182914.2(SYNE2):c.14225C>T (p.Ala4742Val) rs373034895
NM_182914.2(SYNE2):c.14430A>G (p.Thr4810=) rs34248042
NM_182914.2(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398
NM_182914.2(SYNE2):c.14734C>G (p.Pro4912Ala) rs17766354
NM_182914.2(SYNE2):c.14737G>A (p.Glu4913Lys) rs12881815
NM_182914.2(SYNE2):c.14776T>C (p.Leu4926=) rs8007874
NM_182914.2(SYNE2):c.1482G>A (p.Leu494=) rs117567094
NM_182914.2(SYNE2):c.15256C>T (p.His5086Tyr) rs2039475
NM_182914.2(SYNE2):c.15293_15295delTTC (p.Leu5098del) rs368230785
NM_182914.2(SYNE2):c.15689A>G (p.Lys5230Arg) rs146573874
NM_182914.2(SYNE2):c.15794T>C (p.Val5265Ala) rs142660236
NM_182914.2(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607
NM_182914.2(SYNE2):c.15928T>C (p.Leu5310=) rs74975380
NM_182914.2(SYNE2):c.16095-10G>A rs139126909
NM_182914.2(SYNE2):c.16178C>T (p.Ala5393Val) rs147173048
NM_182914.2(SYNE2):c.16305G>A (p.Leu5435=) rs116758464
NM_182914.2(SYNE2):c.16405C>A (p.Pro5469Thr) rs148492034
NM_182914.2(SYNE2):c.16522T>A (p.Ser5508Thr) rs35190322
NM_182914.2(SYNE2):c.16591C>A (p.Pro5531Thr) rs145036293
NM_182914.2(SYNE2):c.16605+10A>G rs761193543
NM_182914.2(SYNE2):c.16639G>A (p.Asp5547Asn) rs17179194
NM_182914.2(SYNE2):c.16718G>A (p.Arg5573Gln) rs149227847
NM_182914.2(SYNE2):c.16722A>G (p.Gln5574=) rs17101704
NM_182914.2(SYNE2):c.16743G>A (p.Thr5581=) rs138769395
NM_182914.2(SYNE2):c.17033C>T (p.Thr5678Met) rs147365925
NM_182914.2(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035
NM_182914.2(SYNE2):c.17539G>A (p.Glu5847Lys) rs201427580
NM_182914.2(SYNE2):c.17556+4T>C rs2297301
NM_182914.2(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973
NM_182914.2(SYNE2):c.18037A>C (p.Arg6013=) rs375971416
NM_182914.2(SYNE2):c.18039-5T>A rs189611387
NM_182914.2(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744
NM_182914.2(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895
NM_182914.2(SYNE2):c.18723+8C>T rs200853043
NM_182914.2(SYNE2):c.18963G>T (p.Leu6321=) rs757232346
NM_182914.2(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640
NM_182914.2(SYNE2):c.19194C>T (p.Ala6398=) rs144599409
NM_182914.2(SYNE2):c.19415C>T (p.Ser6472Leu) rs150955173
NM_182914.2(SYNE2):c.19458C>T (p.Pro6486=) rs144593270
NM_182914.2(SYNE2):c.19501C>T (p.Pro6501Ser) rs200937358
NM_182914.2(SYNE2):c.19636G>A (p.Gly6546Ser) rs199577239
NM_182914.2(SYNE2):c.19639A>G (p.Ile6547Val) rs45453691
NM_182914.2(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500
NM_182914.2(SYNE2):c.20011G>A (p.Ala6671Thr) rs34820571
NM_182914.2(SYNE2):c.2013G>A (p.Leu671=) rs371320284
NM_182914.2(SYNE2):c.20158C>T (p.Arg6720Trp) rs35700578
NM_182914.2(SYNE2):c.20161G>A (p.Ala6721Thr) rs140897155
NM_182914.2(SYNE2):c.20197G>A (p.Glu6733Lys) rs150172232
NM_182914.2(SYNE2):c.20203G>A (p.Glu6735Lys) rs138789938
NM_182914.2(SYNE2):c.2026A>G (p.Lys676Glu) rs78191145
NM_182914.2(SYNE2):c.20286T>C (p.Cys6762=) rs77065534
NM_182914.2(SYNE2):c.20339G>A (p.Arg6780Gln) rs202240664
NM_182914.2(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129
NM_182914.2(SYNE2):c.2070A>G (p.Leu690=) rs79037871
NM_182914.2(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405
NM_182914.2(SYNE2):c.2409C>A (p.Ser803=) rs17101525
NM_182914.2(SYNE2):c.2803T>C (p.Leu935=) rs114718315
NM_182914.2(SYNE2):c.2934A>G (p.Glu978=) rs34001379
NM_182914.2(SYNE2):c.3235A>G (p.Thr1079Ala) rs192128801
NM_182914.2(SYNE2):c.3559A>C (p.Ile1187Leu) rs57259697
NM_182914.2(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282
NM_182914.2(SYNE2):c.4286T>C (p.Leu1429Pro) rs150573158
NM_182914.2(SYNE2):c.430C>G (p.Leu144Val) rs142000273
NM_182914.2(SYNE2):c.4536A>G (p.Thr1512=) rs11158524
NM_182914.2(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942
NM_182914.2(SYNE2):c.5156T>C (p.Met1719Thr) rs73277546
NM_182914.2(SYNE2):c.5187T>A (p.His1729Gln) rs116597541
NM_182914.2(SYNE2):c.5517A>T (p.Leu1839Phe) rs35883188
NM_182914.2(SYNE2):c.5534A>G (p.Lys1845Arg) rs76634907
NM_182914.2(SYNE2):c.5608A>C (p.Ser1870Arg) rs368227332
NM_182914.2(SYNE2):c.6321C>T (p.Ser2107=) rs143410137
NM_182914.2(SYNE2):c.6330G>A (p.Pro2110=) rs779101206
NM_182914.2(SYNE2):c.6511C>G (p.Leu2171Val) rs199743242
NM_182914.2(SYNE2):c.6599A>G (p.Lys2200Arg) rs551801857
NM_182914.2(SYNE2):c.6690C>T (p.His2230=) rs138272705
NM_182914.2(SYNE2):c.6714+3G>A rs142902034
NM_182914.2(SYNE2):c.6714+6G>T rs191541575
NM_182914.2(SYNE2):c.6880-5C>T rs187173455
NM_182914.2(SYNE2):c.7040C>A (p.Ala2347Glu) rs34625768
NM_182914.2(SYNE2):c.7075A>G (p.Ser2359Gly) rs7157465
NM_182914.2(SYNE2):c.7124T>C (p.Leu2375Pro) rs111902869
NM_182914.2(SYNE2):c.7128A>G (p.Pro2376=) rs117423703
NM_182914.2(SYNE2):c.7162G>A (p.Glu2388Lys) rs200842904
NM_182914.2(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135
NM_182914.2(SYNE2):c.7467G>C (p.Leu2489Phe) rs143031135
NM_182914.2(SYNE2):c.7469T>G (p.Val2490Gly) rs34393543
NM_182914.2(SYNE2):c.7643+9A>G rs115809466
NM_182914.2(SYNE2):c.7898A>G (p.Asn2633Ser) rs190582637
NM_182914.2(SYNE2):c.7976G>A (p.Arg2659Gln) rs199561218
NM_182914.2(SYNE2):c.8003T>G (p.Leu2668Trp) rs143558316
NM_182914.2(SYNE2):c.8041G>A (p.Val2681Ile) rs150946074
NM_182914.2(SYNE2):c.8422C>T (p.Leu2808=) rs35960129
NM_182914.2(SYNE2):c.8597C>T (p.Thr2866Met) rs114508894
NM_182914.2(SYNE2):c.9023T>C (p.Ile3008Thr) rs115969845
NM_182914.2(SYNE2):c.9230C>T (p.Pro3077Leu) rs200742016
NM_182914.2(SYNE2):c.9347A>G (p.Lys3116Arg) rs138689053
NM_182914.2(SYNE2):c.9396G>C (p.Lys3132Asn) rs566182360
NM_182914.2(SYNE2):c.9502A>G (p.Ile3168Val) rs193035848
NM_182914.2(SYNE2):c.9700G>C (p.Glu3234Gln) rs372597797
NM_182914.2(SYNE2):c.990+10A>G rs145924910
NM_182914.2(SYNE2):c.9974C>T (p.Ala3325Val) rs377173620

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