ClinVar Miner

List of variants reported as likely benign for Emery-Dreifuss muscular dystrophy 4, autosomal dominant by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 190
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HGVS dbSNP
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=) rs186937478
NM_182961.4(SYNE1):c.12614C>T (p.Ser4205Leu) rs140359400
NM_182961.4(SYNE1):c.12832T>C (p.Leu4278=) rs749626940
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=) rs755709525
NM_182961.4(SYNE1):c.12953C>T (p.Thr4318Met) rs200825287
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=) rs530630718
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=) rs772100783
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=) rs777234795
NM_182961.4(SYNE1):c.15894C>T (p.Thr5298=) rs143416387
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=) rs146705789
NM_182961.4(SYNE1):c.16272G>A (p.Lys5424=) rs142704460
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=) rs148994723
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=) rs1267116175
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=) rs1593222147
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=) rs138024258
NM_182961.4(SYNE1):c.21061T>C (p.Leu7021=) rs202172980
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 rs528364885
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=) rs765032226
NM_182961.4(SYNE1):c.22902G>A (p.Ser7634=) rs140577642
NM_182961.4(SYNE1):c.22941C>T (p.Leu7647=) rs747134735
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=) rs766320378
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=) rs747858299
NM_182961.4(SYNE1):c.25660-11_25660-10del rs1585772300
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=) rs201752079
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488
NM_182961.4(SYNE1):c.3387C>T (p.Tyr1129=) rs561575834
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=) rs368727420
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=) rs1481434570
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 rs1591882273
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=) rs140123292
NM_182961.4(SYNE1):c.9855C>T (p.Phe3285=) rs776394371
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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