ClinVar Miner

List of variants reported as likely benign for autosomal dominant Emery-Dreifuss muscular dystrophy by Invitae

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 329
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HGVS dbSNP
NM_015180.5(SYNE2):c.8403_8404inv (p.Ser2802Gly)
NM_182914.2(SYNE2):c.10095A>G (p.Arg3365=)
NM_182914.2(SYNE2):c.10306G>A (p.Gly3436Ser) rs768614412
NM_182914.2(SYNE2):c.10313G>A (p.Cys3438Tyr)
NM_182914.2(SYNE2):c.10392C>T (p.Cys3464=) rs373646325
NM_182914.2(SYNE2):c.10494A>G (p.Thr3498=) rs201000414
NM_182914.2(SYNE2):c.11061A>G (p.Ala3687=) rs769752720
NM_182914.2(SYNE2):c.11164-4C>T rs370961691
NM_182914.2(SYNE2):c.11313G>C (p.Gln3771His) rs144596211
NM_182914.2(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054
NM_182914.2(SYNE2):c.11530A>G (p.Ile3844Val) rs140243093
NM_182914.2(SYNE2):c.1154A>G (p.Asn385Ser) rs201176149
NM_182914.2(SYNE2):c.11937A>G (p.Leu3979=) rs147744381
NM_182914.2(SYNE2):c.11944A>G (p.Asn3982Asp) rs10137972
NM_182914.2(SYNE2):c.12056T>G (p.Phe4019Cys)
NM_182914.2(SYNE2):c.12121C>T (p.Arg4041Cys) rs146197259
NM_182914.2(SYNE2):c.12192A>G (p.Val4064=)
NM_182914.2(SYNE2):c.12560A>T (p.Asn4187Ile) rs34480732
NM_182914.2(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848
NM_182914.2(SYNE2):c.12636C>G (p.Asp4212Glu)
NM_182914.2(SYNE2):c.12655G>A (p.Ala4219Thr) rs138644399
NM_182914.2(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737
NM_182914.2(SYNE2):c.12903C>T (p.Gly4301=) rs148708516
NM_182914.2(SYNE2):c.13256A>G (p.Asp4419Gly)
NM_182914.2(SYNE2):c.13377C>G (p.Leu4459=) rs141379692
NM_182914.2(SYNE2):c.13424T>C (p.Val4475Ala)
NM_182914.2(SYNE2):c.13457C>G (p.Thr4486Ser)
NM_182914.2(SYNE2):c.13510C>G (p.Gln4504Glu)
NM_182914.2(SYNE2):c.1356A>C (p.Glu452Asp)
NM_182914.2(SYNE2):c.13850C>T (p.Thr4617Ile) rs148582250
NM_182914.2(SYNE2):c.13983T>C (p.Asn4661=)
NM_182914.2(SYNE2):c.14184A>G (p.Thr4728=) rs753123786
NM_182914.2(SYNE2):c.14313G>A (p.Ala4771=)
NM_182914.2(SYNE2):c.144C>T (p.His48=) rs751515594
NM_182914.2(SYNE2):c.14544A>G (p.Ala4848=)
NM_182914.2(SYNE2):c.14792A>G (p.Lys4931Arg) rs147640636
NM_182914.2(SYNE2):c.14920T>G (p.Ser4974Ala)
NM_182914.2(SYNE2):c.14976+10A>G rs367888426
NM_182914.2(SYNE2):c.15132T>A (p.Leu5044=) rs201429908
NM_182914.2(SYNE2):c.15219C>T (p.Asn5073=)
NM_182914.2(SYNE2):c.15248A>G (p.Asp5083Gly) rs149617373
NM_182914.2(SYNE2):c.15351C>T (p.Phe5117=)
NM_182914.2(SYNE2):c.15495A>G (p.Leu5165=) rs1555509783
NM_182914.2(SYNE2):c.15552C>T (p.Asn5184=) rs201334658
NM_182914.2(SYNE2):c.15689A>G (p.Lys5230Arg) rs146573874
NM_182914.2(SYNE2):c.15774A>G (p.Arg5258=)
NM_182914.2(SYNE2):c.15781G>A (p.Val5261Ile) rs144605670
NM_182914.2(SYNE2):c.15848A>G (p.Asp5283Gly) rs138797058
NM_182914.2(SYNE2):c.15928T>C (p.Leu5310=) rs74975380
NM_182914.2(SYNE2):c.16088A>G (p.His5363Arg) rs150677837
NM_182914.2(SYNE2):c.16156C>T (p.Leu5386Phe) rs184745422
NM_182914.2(SYNE2):c.16178C>T (p.Ala5393Val) rs147173048
NM_182914.2(SYNE2):c.16195G>A (p.Ala5399Thr) rs140265039
NM_182914.2(SYNE2):c.16374A>T (p.Gln5458His) rs191057574
NM_182914.2(SYNE2):c.16410C>G (p.Gly5470=) rs200393620
NM_182914.2(SYNE2):c.16701G>T (p.Thr5567=) rs200950664
NM_182914.2(SYNE2):c.16782G>A (p.Leu5594=)
NM_182914.2(SYNE2):c.16856A>G (p.Asp5619Gly) rs139187222
NM_182914.2(SYNE2):c.16863T>C (p.Ala5621=) rs200618488
NM_182914.2(SYNE2):c.1689G>A (p.Val563=) rs756480117
NM_182914.2(SYNE2):c.16912G>A (p.Glu5638Lys)
NM_182914.2(SYNE2):c.17033C>T (p.Thr5678Met) rs147365925
NM_182914.2(SYNE2):c.17352C>A (p.Ile5784=)
NM_182914.2(SYNE2):c.17685C>T (p.His5895=)
NM_182914.2(SYNE2):c.18037A>C (p.Arg6013=) rs375971416
NM_182914.2(SYNE2):c.18429C>T (p.Asp6143=) rs559412468
NM_182914.2(SYNE2):c.1842C>T (p.Pro614=)
NM_182914.2(SYNE2):c.1852C>G (p.Leu618Val) rs199697908
NM_182914.2(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895
NM_182914.2(SYNE2):c.1873C>T (p.His625Tyr) rs192061494
NM_182914.2(SYNE2):c.18835G>A (p.Ala6279Thr)
NM_182914.2(SYNE2):c.18963G>T (p.Leu6321=) rs757232346
NM_182914.2(SYNE2):c.19056+10C>T
NM_182914.2(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640
NM_182914.2(SYNE2):c.1914C>T (p.Val638=)
NM_182914.2(SYNE2):c.19248C>G (p.Pro6416=) rs150363140
NM_182914.2(SYNE2):c.19323C>T (p.Ser6441=) rs186839881
NM_182914.2(SYNE2):c.19415C>T (p.Ser6472Leu) rs150955173
NM_182914.2(SYNE2):c.19417G>C (p.Asp6473His) rs140940287
NM_182914.2(SYNE2):c.19501C>T (p.Pro6501Ser) rs200937358
NM_182914.2(SYNE2):c.19623C>T (p.Asp6541=)
NM_182914.2(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500
NM_182914.2(SYNE2):c.2001+8C>A
NM_182914.2(SYNE2):c.20011G>A (p.Ala6671Thr) rs34820571
NM_182914.2(SYNE2):c.20028A>G (p.Arg6676=) rs759606978
NM_182914.2(SYNE2):c.20061+4C>T rs373128678
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.20191-8G>C
NM_182914.2(SYNE2):c.20240A>C (p.Gln6747Pro) rs147470935
NM_182914.2(SYNE2):c.20383-9G>A rs373857906
NM_182914.2(SYNE2):c.20409C>T (p.Phe6803=) rs1233622581
NM_182914.2(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129
NM_182914.2(SYNE2):c.20448C>T (p.Ser6816=) rs546213944
NM_182914.2(SYNE2):c.20523C>T (p.Pro6841=)
NM_182914.2(SYNE2):c.20536C>T (p.Pro6846Ser) rs147848144
NM_182914.2(SYNE2):c.20547C>T (p.Ser6849=)
NM_182914.2(SYNE2):c.22C>T (p.Pro8Ser) rs2275017
NM_182914.2(SYNE2):c.2560C>G (p.Gln854Glu) rs34449017
NM_182914.2(SYNE2):c.2665A>G (p.Asn889Asp) rs370800852
NM_182914.2(SYNE2):c.280A>G (p.Ile94Val) rs146748294
NM_182914.2(SYNE2):c.2903G>A (p.Arg968His) rs200356303
NM_182914.2(SYNE2):c.3141G>A (p.Thr1047=) rs372376442
NM_182914.2(SYNE2):c.3235A>G (p.Thr1079Ala) rs192128801
NM_182914.2(SYNE2):c.3639-6A>G
NM_182914.2(SYNE2):c.3773A>G (p.Tyr1258Cys) rs370541277
NM_182914.2(SYNE2):c.4071G>A (p.Thr1357=) rs371506443
NM_182914.2(SYNE2):c.4285C>T (p.Leu1429=)
NM_182914.2(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863
NM_182914.2(SYNE2):c.5020T>C (p.Leu1674=) rs201666704
NM_182914.2(SYNE2):c.5100G>A (p.Val1700=)
NM_182914.2(SYNE2):c.5253G>A (p.Arg1751=) rs375022006
NM_182914.2(SYNE2):c.5893A>G (p.Lys1965Glu) rs80046702
NM_182914.2(SYNE2):c.6096C>T (p.Ile2032=)
NM_182914.2(SYNE2):c.6588A>G (p.Thr2196=) rs367788980
NM_182914.2(SYNE2):c.6599A>G (p.Lys2200Arg) rs551801857
NM_182914.2(SYNE2):c.6772G>A (p.Val2258Ile)
NM_182914.2(SYNE2):c.6945C>T (p.Ser2315=)
NM_182914.2(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135
NM_182914.2(SYNE2):c.7222-9G>A
NM_182914.2(SYNE2):c.7483G>A (p.Gly2495Arg) rs201036334
NM_182914.2(SYNE2):c.7617G>A (p.Leu2539=) rs200359168
NM_182914.2(SYNE2):c.7643+6T>C rs144143344
NM_182914.2(SYNE2):c.7872A>C (p.Glu2624Asp) rs140325055
NM_182914.2(SYNE2):c.844C>T (p.Leu282=)
NM_182914.2(SYNE2):c.8761A>C (p.Lys2921Gln) rs182683822
NM_182914.2(SYNE2):c.8931T>C (p.Val2977=) rs1555453730
NM_182914.2(SYNE2):c.8964C>T (p.Leu2988=)
NM_182914.2(SYNE2):c.9140A>G (p.Lys3047Arg) rs201471505
NM_182914.2(SYNE2):c.9230C>T (p.Pro3077Leu) rs200742016
NM_182914.2(SYNE2):c.9231G>A (p.Pro3077=) rs199659722
NM_182914.2(SYNE2):c.9252C>T (p.Ala3084=) rs200061977
NM_182914.2(SYNE2):c.9315A>C (p.Leu3105Phe) rs201466326
NM_182914.2(SYNE2):c.9519G>A (p.Gln3173=) rs779254549
NM_182914.2(SYNE2):c.9633T>C (p.Ala3211=) rs1335670113
NM_182914.2(SYNE2):c.9691C>T (p.Arg3231Cys) rs546650178
NM_182914.2(SYNE2):c.9745-9A>G rs778028287
NM_182914.2(SYNE2):c.9813C>T (p.Ser3271=)
NM_182914.3(SYNE2):c.12109-10_12109-7del rs755277543
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988
NM_182961.4(SYNE1):c.10105A>G (p.Met3369Val) rs199668467
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=) rs201715967
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.11030G>A (p.Cys3677Tyr) rs148028681
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.11485A>G (p.Thr3829Ala) rs115786671
NM_182961.4(SYNE1):c.11970G>A (p.Leu3990=) rs960254266
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=) rs145401144
NM_182961.4(SYNE1):c.12393C>A (p.Gly4131=) rs375707429
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) rs141202420
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=) rs149536991
NM_182961.4(SYNE1):c.12609G>A (p.Glu4203=)
NM_182961.4(SYNE1):c.12614C>T (p.Ser4205Leu) rs140359400
NM_182961.4(SYNE1):c.12832T>C (p.Leu4278=)
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=) rs755709525
NM_182961.4(SYNE1):c.12953C>T (p.Thr4318Met)
NM_182961.4(SYNE1):c.12954G>A (p.Thr4318=) rs968884551
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993
NM_182961.4(SYNE1):c.13695G>A (p.Lys4565=)
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe) rs199701902
NM_182961.4(SYNE1):c.13800A>G (p.Thr4600=) rs184264920
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile) rs141141950
NM_182961.4(SYNE1):c.14115C>T (p.Ala4705=) rs377739292
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys) rs150062167
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.14727G>A (p.Gly4909=) rs767294195
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala) rs200954103
NM_182961.4(SYNE1):c.15072C>T (p.Asp5024=)
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=) rs763930147
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.15516C>T (p.Thr5172=)
NM_182961.4(SYNE1):c.15894C>T (p.Thr5298=)
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=) rs146705789
NM_182961.4(SYNE1):c.16272G>A (p.Lys5424=)
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=) rs144376043
NM_182961.4(SYNE1):c.1632+6T>C rs758756977
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys) rs138745849
NM_182961.4(SYNE1):c.16901T>C (p.Met5634Thr) rs138509817
NM_182961.4(SYNE1):c.16984C>A (p.Arg5662Ser) rs145899734
NM_182961.4(SYNE1):c.17052G>A (p.Pro5684=)
NM_182961.4(SYNE1):c.17118A>G (p.Leu5706=) rs1194006323
NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=) rs200002217
NM_182961.4(SYNE1):c.17347-6C>T rs201692248
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
NM_182961.4(SYNE1):c.17542-7G>A rs199762799
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713
NM_182961.4(SYNE1):c.17841A>G (p.Leu5947=) rs143490673
NM_182961.4(SYNE1):c.18072C>T (p.Leu6024=) rs749375364
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe) rs138039375
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=) rs142251671
NM_182961.4(SYNE1):c.18576A>G (p.Gly6192=)
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950
NM_182961.4(SYNE1):c.18813T>C (p.Ala6271=) rs368818393
NM_182961.4(SYNE1):c.18849G>A (p.Gly6283=) rs776505129
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=) rs370053768
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960
NM_182961.4(SYNE1):c.19689C>A (p.Leu6563=) rs372285648
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=) rs143118084
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln) rs190673256
NM_182961.4(SYNE1):c.20070G>A (p.Thr6690=) rs141263831
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=) rs141263831
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729
NM_182961.4(SYNE1):c.2037G>A (p.Leu679=)
NM_182961.4(SYNE1):c.20553C>T (p.Ala6851=) rs969664934
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=) rs139480065
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=) rs367864272
NM_182961.4(SYNE1):c.20898A>G (p.Thr6966=) rs766515787
NM_182961.4(SYNE1):c.20955G>A (p.Lys6985=)
NM_182961.4(SYNE1):c.21061T>C (p.Leu7021=)
NM_182961.4(SYNE1):c.21414C>T (p.Ala7138=) rs144904215
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.21876A>G (p.Gly7292=) rs375826346
NM_182961.4(SYNE1):c.21879G>A (p.Leu7293=) rs749164483
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=) rs750669148
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=) rs201392317
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213
NM_182961.4(SYNE1):c.22347-9T>A rs535951024
NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys) rs139466191
NM_182961.4(SYNE1):c.22495-10T>A
NM_182961.4(SYNE1):c.22495-17dup rs767966157
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=) rs111367233
NM_182961.4(SYNE1):c.22770C>T (p.Leu7590=)
NM_182961.4(SYNE1):c.22902G>A (p.Ser7634=) rs140577642
NM_182961.4(SYNE1):c.22941C>T (p.Leu7647=)
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val) rs150589796
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.23406A>G (p.Lys7802=) rs780485635
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly) rs141315921
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys) rs148997223
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=) rs377113267
NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=) rs767628258
NM_182961.4(SYNE1):c.24150C>T (p.His8050=) rs140259310
NM_182961.4(SYNE1):c.24162G>A (p.Thr8054=) rs185088779
NM_182961.4(SYNE1):c.24313-8C>T rs201008999
NM_182961.4(SYNE1):c.24549G>A (p.Ala8183=) rs755622688
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566
NM_182961.4(SYNE1):c.24633C>T (p.Ile8211=) rs201078523
NM_182961.4(SYNE1):c.24660C>T (p.His8220=) rs150811468
NM_182961.4(SYNE1):c.24780G>A (p.Ser8260=)
NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln) rs201029723
NM_182961.4(SYNE1):c.2487C>T (p.Asp829=) rs753367709
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln) rs148008634
NM_182961.4(SYNE1):c.24977-1777C>T rs761266231
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly) rs142690727
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885
NM_182961.4(SYNE1):c.25120-6A>G rs201898019
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.25656C>T (p.Cys8552=)
NM_182961.4(SYNE1):c.25660-11_25660-10del
NM_182961.4(SYNE1):c.2569-7G>A rs372744173
NM_182961.4(SYNE1):c.2569-8C>T rs376033376
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542
NM_182961.4(SYNE1):c.26373G>A (p.Thr8791=) rs370645510
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638
NM_182961.4(SYNE1):c.3099C>T (p.Ala1033=)
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488
NM_182961.4(SYNE1):c.3387C>T (p.Tyr1129=)
NM_182961.4(SYNE1):c.3975G>A (p.Glu1325=) rs372832470
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801
NM_182961.4(SYNE1):c.4149+9T>C rs1554706986
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp) rs34028822
NM_182961.4(SYNE1):c.4218A>C (p.Ile1406=)
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe) rs200424447
NM_182961.4(SYNE1):c.4824G>A (p.Ala1608=) rs369587906
NM_182961.4(SYNE1):c.4884G>A (p.Glu1628=) rs886042121
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=) rs187410988
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp) rs150702500
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg) rs146244669
NM_182961.4(SYNE1):c.5421+9G>T rs376218204
NM_182961.4(SYNE1):c.5421+9del rs774622835
NM_182961.4(SYNE1):c.5622C>G (p.Leu1874=)
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg) rs112744561
NM_182961.4(SYNE1):c.5850C>A (p.Ala1950=) rs373129942
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.6093C>T (p.His2031=) rs150072383
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys) rs144435836
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284
NM_182961.4(SYNE1):c.6826-6A>G rs183683592
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.7238-9T>C
NM_182961.4(SYNE1):c.7284A>C (p.Ala2428=) rs886043162
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.7611G>T (p.Arg2537Ser) rs568309673
NM_182961.4(SYNE1):c.7647C>T (p.His2549=) rs113163375
NM_182961.4(SYNE1):c.7737G>A (p.Gln2579=) rs1275065218
NM_182961.4(SYNE1):c.7797C>G (p.Ser2599=) rs748909185
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635
NM_182961.4(SYNE1):c.7977C>A (p.Thr2659=) rs1032522783
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro) rs147870520
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys) rs145195048
NM_182961.4(SYNE1):c.8241G>C (p.Gln2747His) rs200658991
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met) rs142676206
NM_182961.4(SYNE1):c.866G>C (p.Ser289Thr) rs139190745
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389
NM_182961.4(SYNE1):c.9027G>A (p.Leu3009=) rs148486281
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770
NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=) rs199554198
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg) rs566953005
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly) rs149005052
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile) rs140927945
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_182961.4(SYNE1):c.9738C>T (p.Ala3246=)
NM_182961.4(SYNE1):c.9855C>T (p.Phe3285=)
NM_182961.4(SYNE1):c.9891G>A (p.Thr3297=) rs200222988
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=) rs184006845
NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=) rs747731841

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