ClinVar Miner

List of variants in gene SYNE2 reported as uncertain significance for autosomal dominant Emery-Dreifuss muscular dystrophy

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 542
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HGVS dbSNP
NM_015180.5(SYNE2):c.11023-24_11023-9del
NM_015180.5(SYNE2):c.11549_11550delinsGA (p.Asp3850Gly) rs1555473349
NM_015180.5(SYNE2):c.13695_13707+2dup rs758985012
NM_015180.5(SYNE2):c.16328_16330AAG[1] (p.Glu5444del) rs751691446
NM_015180.5(SYNE2):c.19480_19482CTA[1] (p.Leu6496del) rs886043261
NM_015180.5(SYNE2):c.20566_20568delinsGAA (p.Ser6856Glu) rs1555564487
NM_015180.5(SYNE2):c.9284A>G (p.Lys3095Arg) rs771325522
NM_182914.2(SYNE2):c.*145C>A rs886050602
NM_182914.2(SYNE2):c.*149G>C rs886050603
NM_182914.2(SYNE2):c.*219T>G rs886050604
NM_182914.2(SYNE2):c.*305G>T rs886050605
NM_182914.2(SYNE2):c.*315C>T rs183982306
NM_182914.2(SYNE2):c.*359A>C rs886050606
NM_182914.2(SYNE2):c.*489C>A rs886050607
NM_182914.2(SYNE2):c.*695T>G rs886050608
NM_182914.2(SYNE2):c.*732G>A rs886050609
NM_182914.2(SYNE2):c.*734T>A rs886050610
NM_182914.2(SYNE2):c.-107G>A rs886050577
NM_182914.2(SYNE2):c.-128A>T rs886050576
NM_182914.2(SYNE2):c.-169C>T rs886050575
NM_182914.2(SYNE2):c.-209A>T rs886050574
NM_182914.2(SYNE2):c.10164G>A (p.Ser3388=) rs772208833
NM_182914.2(SYNE2):c.10218G>T (p.Leu3406Phe) rs201421128
NM_182914.2(SYNE2):c.10267A>T (p.Ile3423Phe) rs779367486
NM_182914.2(SYNE2):c.10327G>A (p.Val3443Met)
NM_182914.2(SYNE2):c.10331C>T (p.Ser3444Leu) rs372338837
NM_182914.2(SYNE2):c.10386G>A (p.Met3462Ile) rs780632525
NM_182914.2(SYNE2):c.10552G>A (p.Gly3518Arg) rs1555462898
NM_182914.2(SYNE2):c.10597C>G (p.Gln3533Glu) rs200040718
NM_182914.2(SYNE2):c.1060C>T (p.Arg354Trp) rs374073818
NM_182914.2(SYNE2):c.10760C>T (p.Ser3587Phe) rs748430621
NM_182914.2(SYNE2):c.10844C>T (p.Pro3615Leu) rs549458287
NM_182914.2(SYNE2):c.10881C>T (p.Ile3627=) rs750125057
NM_182914.2(SYNE2):c.10924C>A (p.Leu3642Met)
NM_182914.2(SYNE2):c.10928G>A (p.Arg3643Gln) rs748433814
NM_182914.2(SYNE2):c.10947G>A (p.Met3649Ile) rs772140514
NM_182914.2(SYNE2):c.11016T>C (p.Asp3672=) rs886050584
NM_182914.2(SYNE2):c.11047T>A (p.Ser3683Thr)
NM_182914.2(SYNE2):c.11174A>G (p.Asp3725Gly)
NM_182914.2(SYNE2):c.11259A>C (p.Gln3753His)
NM_182914.2(SYNE2):c.11282T>A (p.Ile3761Asn)
NM_182914.2(SYNE2):c.11323T>A (p.Cys3775Ser) rs753899883
NM_182914.2(SYNE2):c.11336A>G (p.Gln3779Arg) rs538884693
NM_182914.2(SYNE2):c.11411C>G (p.Thr3804Ser) rs367893963
NM_182914.2(SYNE2):c.11441A>G (p.Tyr3814Cys) rs780583186
NM_182914.2(SYNE2):c.11462G>A (p.Ser3821Asn) rs1555469449
NM_182914.2(SYNE2):c.11615C>T (p.Thr3872Ile)
NM_182914.2(SYNE2):c.11656C>G (p.Gln3886Glu) rs1235280357
NM_182914.2(SYNE2):c.11660G>A (p.Arg3887Gln) rs181798411
NM_182914.2(SYNE2):c.11729A>G (p.Lys3910Arg) rs142616444
NM_182914.2(SYNE2):c.11834C>T (p.Ala3945Val)
NM_182914.2(SYNE2):c.11876C>T (p.Thr3959Ile) rs149790389
NM_182914.2(SYNE2):c.11900T>G (p.Phe3967Cys) rs1567266829
NM_182914.2(SYNE2):c.11905C>T (p.Arg3969Trp) rs141498263
NM_182914.2(SYNE2):c.11906G>A (p.Arg3969Gln) rs563332131
NM_182914.2(SYNE2):c.1195C>A (p.Leu399Ile)
NM_182914.2(SYNE2):c.11976+5G>A
NM_182914.2(SYNE2):c.11993C>T (p.Thr3998Ile) rs886050585
NM_182914.2(SYNE2):c.12037A>T (p.Asn4013Tyr) rs1555478028
NM_182914.2(SYNE2):c.12064G>A (p.Glu4022Lys) rs886050586
NM_182914.2(SYNE2):c.12108+3A>G rs751551602
NM_182914.2(SYNE2):c.12118G>A (p.Glu4040Lys) rs1245656240
NM_182914.2(SYNE2):c.12194T>C (p.Leu4065Pro)
NM_182914.2(SYNE2):c.12226G>A (p.Glu4076Lys) rs1567288490
NM_182914.2(SYNE2):c.12238A>G (p.Arg4080Gly)
NM_182914.2(SYNE2):c.12239G>A (p.Arg4080Lys) rs886042419
NM_182914.2(SYNE2):c.12253G>A (p.Ala4085Thr)
NM_182914.2(SYNE2):c.12299A>C (p.Glu4100Ala) rs779963258
NM_182914.2(SYNE2):c.12302G>A (p.Arg4101Gln) rs372624638
NM_182914.2(SYNE2):c.12311A>C (p.Asn4104Thr) rs886050587
NM_182914.2(SYNE2):c.12325A>G (p.Met4109Val) rs1296085055
NM_182914.2(SYNE2):c.12370G>T (p.Val4124Leu) rs370255444
NM_182914.2(SYNE2):c.12381+5G>A rs771680833
NM_182914.2(SYNE2):c.12381+6G>A rs781486571
NM_182914.2(SYNE2):c.12437A>G (p.His4146Arg)
NM_182914.2(SYNE2):c.12445G>T (p.Asp4149Tyr) rs1555485325
NM_182914.2(SYNE2):c.12457G>C (p.Asp4153His)
NM_182914.2(SYNE2):c.12470C>T (p.Ser4157Leu) rs1567303775
NM_182914.2(SYNE2):c.12529A>G (p.Met4177Val) rs772354856
NM_182914.2(SYNE2):c.12609+1G>T rs745516407
NM_182914.2(SYNE2):c.12610G>T (p.Gly4204Cys) rs886050588
NM_182914.2(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235
NM_182914.2(SYNE2):c.12637A>C (p.Thr4213Pro) rs886050589
NM_182914.2(SYNE2):c.12655G>C (p.Ala4219Pro) rs138644399
NM_182914.2(SYNE2):c.12660A>G (p.Gln4220=)
NM_182914.2(SYNE2):c.12695C>T (p.Pro4232Leu) rs139959852
NM_182914.2(SYNE2):c.12739G>A (p.Glu4247Lys) rs886050590
NM_182914.2(SYNE2):c.12796G>A (p.Ala4266Thr) rs1316995826
NM_182914.2(SYNE2):c.12840+12A>G rs886050591
NM_182914.2(SYNE2):c.128C>T (p.Ser43Leu) rs754783984
NM_182914.2(SYNE2):c.12941C>T (p.Ala4314Val)
NM_182914.2(SYNE2):c.12942G>A (p.Ala4314=) rs762957203
NM_182914.2(SYNE2):c.13020_13023+12delinsGATCT rs1555495562
NM_182914.2(SYNE2):c.13021C>G (p.Gln4341Glu) rs367698099
NM_182914.2(SYNE2):c.13141G>T (p.Asp4381Tyr)
NM_182914.2(SYNE2):c.13156C>G (p.Gln4386Glu) rs140277551
NM_182914.2(SYNE2):c.13159G>C (p.Val4387Leu)
NM_182914.2(SYNE2):c.1318C>T (p.His440Tyr) rs761844853
NM_182914.2(SYNE2):c.13234C>T (p.Gln4412Ter)
NM_182914.2(SYNE2):c.13423G>A (p.Val4475Ile) rs200498250
NM_182914.2(SYNE2):c.13466A>G (p.Asn4489Ser) rs747349342
NM_182914.2(SYNE2):c.13524G>C (p.Leu4508=) rs373702093
NM_182914.2(SYNE2):c.13526G>A (p.Arg4509His) rs200946949
NM_182914.2(SYNE2):c.13570G>A (p.Glu4524Lys) rs143646847
NM_182914.2(SYNE2):c.13687G>C (p.Gly4563Arg)
NM_182914.2(SYNE2):c.1384A>G (p.Lys462Glu) rs753039223
NM_182914.2(SYNE2):c.13861G>A (p.Ala4621Thr) rs745357432
NM_182914.2(SYNE2):c.13883T>C (p.Leu4628Pro) rs559503999
NM_182914.2(SYNE2):c.13906C>T (p.Arg4636Cys) rs767673156
NM_182914.2(SYNE2):c.13917+10C>T rs760288753
NM_182914.2(SYNE2):c.14053G>T (p.Ala4685Ser)
NM_182914.2(SYNE2):c.14104C>A (p.Pro4702Thr) rs111880729
NM_182914.2(SYNE2):c.14110G>T (p.Ala4704Ser) rs886050592
NM_182914.2(SYNE2):c.1412A>G (p.Asn471Ser)
NM_182914.2(SYNE2):c.14139+5G>A rs374778697
NM_182914.2(SYNE2):c.14157G>T (p.Met4719Ile)
NM_182914.2(SYNE2):c.14196C>G (p.Ser4732Arg) rs749317592
NM_182914.2(SYNE2):c.14225C>T (p.Ala4742Val) rs373034895
NM_182914.2(SYNE2):c.14229G>T (p.Leu4743Phe)
NM_182914.2(SYNE2):c.14327T>C (p.Ile4776Thr)
NM_182914.2(SYNE2):c.14460A>C (p.Lys4820Asn) rs574306382
NM_182914.2(SYNE2):c.14486G>A (p.Cys4829Tyr) rs200997641
NM_182914.2(SYNE2):c.14518T>C (p.Trp4840Arg) rs148323208
NM_182914.2(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398
NM_182914.2(SYNE2):c.1463A>G (p.Lys488Arg) rs1437677917
NM_182914.2(SYNE2):c.14644C>T (p.Gln4882Ter) rs1555503635
NM_182914.2(SYNE2):c.14646+6T>A
NM_182914.2(SYNE2):c.1471G>A (p.Val491Ile)
NM_182914.2(SYNE2):c.14812A>G (p.Arg4938Gly) rs1258752132
NM_182914.2(SYNE2):c.14900T>C (p.Leu4967Pro) rs1555506605
NM_182914.2(SYNE2):c.14976+3A>G rs747632731
NM_182914.2(SYNE2):c.14980T>C (p.Phe4994Leu) rs747348017
NM_182914.2(SYNE2):c.15028A>G (p.Ser5010Gly) rs754937863
NM_182914.2(SYNE2):c.15031A>G (p.Ile5011Val) rs201269146
NM_182914.2(SYNE2):c.15050A>T (p.His5017Leu)
NM_182914.2(SYNE2):c.15165A>G (p.Gln5055=) rs145021738
NM_182914.2(SYNE2):c.15187A>C (p.Lys5063Gln) rs746864967
NM_182914.2(SYNE2):c.15263C>A (p.Pro5088Gln) rs779934215
NM_182914.2(SYNE2):c.15385G>A (p.Asp5129Asn) rs931728993
NM_182914.2(SYNE2):c.15446G>T (p.Arg5149Leu) rs142206385
NM_182914.2(SYNE2):c.15457C>T (p.Arg5153Cys)
NM_182914.2(SYNE2):c.15527A>T (p.Glu5176Val)
NM_182914.2(SYNE2):c.15667T>A (p.Ser5223Thr) rs150361559
NM_182914.2(SYNE2):c.15749G>A (p.Arg5250Gln)
NM_182914.2(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607
NM_182914.2(SYNE2):c.15859G>A (p.Asp5287Asn) rs188953744
NM_182914.2(SYNE2):c.15865G>A (p.Val5289Met) rs181059522
NM_182914.2(SYNE2):c.15884G>T (p.Arg5295Leu) rs769633528
NM_182914.2(SYNE2):c.15929T>C (p.Leu5310Ser) rs199976741
NM_182914.2(SYNE2):c.16037G>A (p.Gly5346Asp)
NM_182914.2(SYNE2):c.16109A>C (p.Asn5370Thr)
NM_182914.2(SYNE2):c.16184G>A (p.Gly5395Asp) rs775698210
NM_182914.2(SYNE2):c.16300G>A (p.Glu5434Lys) rs886050594
NM_182914.2(SYNE2):c.16313A>G (p.Asp5438Gly) rs374348890
NM_182914.2(SYNE2):c.16349C>G (p.Ser5450Cys) rs757857559
NM_182914.2(SYNE2):c.16480-1G>A
NM_182914.2(SYNE2):c.16510G>A (p.Val5504Ile) rs1405152996
NM_182914.2(SYNE2):c.16605+10A>G rs761193543
NM_182914.2(SYNE2):c.16605+9A>G rs775937516
NM_182914.2(SYNE2):c.16640A>G (p.Asp5547Gly) rs150415189
NM_182914.2(SYNE2):c.16700C>T (p.Thr5567Met)
NM_182914.2(SYNE2):c.16717C>T (p.Arg5573Trp) rs138323662
NM_182914.2(SYNE2):c.16718G>A (p.Arg5573Gln) rs149227847
NM_182914.2(SYNE2):c.16737G>A (p.Thr5579=)
NM_182914.2(SYNE2):c.16754G>A (p.Arg5585His) rs141144237
NM_182914.2(SYNE2):c.16816A>G (p.Ile5606Val)
NM_182914.2(SYNE2):c.16844C>T (p.Ala5615Val)
NM_182914.2(SYNE2):c.17001-8T>C rs768210935
NM_182914.2(SYNE2):c.17038C>T (p.Arg5680Trp) rs143377752
NM_182914.2(SYNE2):c.17177T>C (p.Val5726Ala) rs944538946
NM_182914.2(SYNE2):c.17188G>A (p.Glu5730Lys) rs368540403
NM_182914.2(SYNE2):c.17235+5T>C rs777252251
NM_182914.2(SYNE2):c.17264G>A (p.Arg5755Gln)
NM_182914.2(SYNE2):c.17334G>T (p.Glu5778Asp)
NM_182914.2(SYNE2):c.17423C>T (p.Thr5808Ile) rs139361264
NM_182914.2(SYNE2):c.17431-3T>C rs886050595
NM_182914.2(SYNE2):c.17431A>G (p.Thr5811Ala)
NM_182914.2(SYNE2):c.17504A>G (p.Asp5835Gly)
NM_182914.2(SYNE2):c.17524G>A (p.Glu5842Lys) rs769564739
NM_182914.2(SYNE2):c.17539G>C (p.Glu5847Gln) rs201427580
NM_182914.2(SYNE2):c.17557G>C (p.Glu5853Gln) rs1158170304
NM_182914.2(SYNE2):c.17560C>A (p.Leu5854Ile) rs773797629
NM_182914.2(SYNE2):c.17591A>G (p.Asn5864Ser) rs566886977
NM_182914.2(SYNE2):c.1760G>T (p.Cys587Phe) rs1555410673
NM_182914.2(SYNE2):c.17635G>A (p.Val5879Ile) rs555731479
NM_182914.2(SYNE2):c.17713G>A (p.Val5905Met) rs778679729
NM_182914.2(SYNE2):c.17717C>A (p.Ala5906Asp) rs755652581
NM_182914.2(SYNE2):c.17791G>A (p.Ala5931Thr) rs945430507
NM_182914.2(SYNE2):c.17832G>A (p.Ala5944=) rs886050596
NM_182914.2(SYNE2):c.1787G>A (p.Arg596His)
NM_182914.2(SYNE2):c.18000C>A (p.Asn6000Lys) rs150002885
NM_182914.2(SYNE2):c.18001G>A (p.Asp6001Asn)
NM_182914.2(SYNE2):c.18038+5G>A rs1328692834
NM_182914.2(SYNE2):c.18085A>G (p.Lys6029Glu)
NM_182914.2(SYNE2):c.18104G>A (p.Arg6035His)
NM_182914.2(SYNE2):c.18114G>A (p.Leu6038=) rs1567630913
NM_182914.2(SYNE2):c.18121A>G (p.Ile6041Val) rs886050597
NM_182914.2(SYNE2):c.18169C>G (p.Gln6057Glu) rs919132800
NM_182914.2(SYNE2):c.18180G>C (p.Gln6060His) rs771893487
NM_182914.2(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744
NM_182914.2(SYNE2):c.18232G>A (p.Ala6078Thr) rs149128439
NM_182914.2(SYNE2):c.1823A>G (p.Glu608Gly)
NM_182914.2(SYNE2):c.18304G>A (p.Glu6102Lys)
NM_182914.2(SYNE2):c.18346C>T (p.Arg6116Cys)
NM_182914.2(SYNE2):c.1837-11G>A rs770407054
NM_182914.2(SYNE2):c.18385A>G (p.Met6129Val) rs766731181
NM_182914.2(SYNE2):c.1844T>C (p.Phe615Ser) rs369877790
NM_182914.2(SYNE2):c.18509C>T (p.Thr6170Met) rs200893937
NM_182914.2(SYNE2):c.18541-9G>A rs886050598
NM_182914.2(SYNE2):c.18622C>T (p.Arg6208Cys) rs377305355
NM_182914.2(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895
NM_182914.2(SYNE2):c.18662A>G (p.Glu6221Gly)
NM_182914.2(SYNE2):c.1867C>G (p.Leu623Val) rs886050579
NM_182914.2(SYNE2):c.18963G>T (p.Leu6321=) rs757232346
NM_182914.2(SYNE2):c.19011T>G (p.Phe6337Leu) rs761432348
NM_182914.2(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853
NM_182914.2(SYNE2):c.19310G>A (p.Gly6437Asp) rs1555551887
NM_182914.2(SYNE2):c.19328T>C (p.Leu6443Pro) rs1555551908
NM_182914.2(SYNE2):c.19391A>C (p.Lys6464Thr) rs1555552449
NM_182914.2(SYNE2):c.19441G>C (p.Asp6481His) rs202052357
NM_182914.2(SYNE2):c.19646A>G (p.Glu6549Gly) rs1567679516
NM_182914.2(SYNE2):c.19691A>G (p.Gln6564Arg) rs1567682749
NM_182914.2(SYNE2):c.19747A>G (p.Ile6583Val) rs771974044
NM_182914.2(SYNE2):c.19763C>T (p.Thr6588Ile) rs752030533
NM_182914.2(SYNE2):c.19823A>T (p.Asp6608Val) rs372546949
NM_182914.2(SYNE2):c.19892C>T (p.Ala6631Val) rs747881699
NM_182914.2(SYNE2):c.19973T>A (p.Leu6658His) rs1555558485
NM_182914.2(SYNE2):c.20029G>A (p.Gly6677Arg)
NM_182914.2(SYNE2):c.20045C>T (p.Ser6682Leu)
NM_182914.2(SYNE2):c.20061+5G>A rs774599138
NM_182914.2(SYNE2):c.20073G>C (p.Gln6691His) rs1555559928
NM_182914.2(SYNE2):c.20140G>A (p.Asp6714Asn) rs751000273
NM_182914.2(SYNE2):c.20206C>G (p.Leu6736Val) rs779852124
NM_182914.2(SYNE2):c.20215C>T (p.Arg6739Cys) rs142809757
NM_182914.2(SYNE2):c.20216G>A (p.Arg6739His) rs532853602
NM_182914.2(SYNE2):c.2023A>G (p.Ile675Val) rs199854951
NM_182914.2(SYNE2):c.20245A>T (p.Ile6749Phe) rs886050599
NM_182914.2(SYNE2):c.20303A>C (p.Lys6768Thr) rs775768707
NM_182914.2(SYNE2):c.20315T>C (p.Ile6772Thr)
NM_182914.2(SYNE2):c.20338C>G (p.Arg6780Gly)
NM_182914.2(SYNE2):c.20366C>A (p.Ala6789Asp)
NM_182914.2(SYNE2):c.20383-15G>T rs886050600
NM_182914.2(SYNE2):c.20423C>T (p.Ser6808Leu) rs372922867
NM_182914.2(SYNE2):c.20428G>T (p.Asp6810Tyr) rs1370786771
NM_182914.2(SYNE2):c.2044A>C (p.Thr682Pro)
NM_182914.2(SYNE2):c.20470-7C>G rs1555563835
NM_182914.2(SYNE2):c.20519T>A (p.Val6840Asp) rs758858068
NM_182914.2(SYNE2):c.20524G>A (p.Gly6842Ser) rs201538331
NM_182914.2(SYNE2):c.20524G>C (p.Gly6842Arg) rs201538331
NM_182914.2(SYNE2):c.20542C>T (p.Arg6848Cys) rs201472187
NM_182914.2(SYNE2):c.20562G>T (p.Val6854=) rs755188684
NM_182914.2(SYNE2):c.20590C>T (p.Leu6864Phe)
NM_182914.2(SYNE2):c.20641G>C (p.Asp6881His) rs1345320685
NM_182914.2(SYNE2):c.20654C>G (p.Thr6885Ser)
NM_182914.2(SYNE2):c.20721A>G (p.Thr6907=) rs886050601
NM_182914.2(SYNE2):c.2260A>C (p.Lys754Gln) rs201892861
NM_182914.2(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405
NM_182914.2(SYNE2):c.2279A>G (p.Asp760Gly)
NM_182914.2(SYNE2):c.2347C>T (p.Leu783Phe)
NM_182914.2(SYNE2):c.238C>T (p.Pro80Ser)
NM_182914.2(SYNE2):c.2402A>G (p.Gln801Arg) rs200848069
NM_182914.2(SYNE2):c.2477A>G (p.Asn826Ser) rs372150492
NM_182914.2(SYNE2):c.2646+6A>T rs768967034
NM_182914.2(SYNE2):c.2827G>T (p.Asp943Tyr) rs543556397
NM_182914.2(SYNE2):c.2839G>A (p.Gly947Arg)
NM_182914.2(SYNE2):c.2940+6A>G rs371534076
NM_182914.2(SYNE2):c.303A>G (p.Leu101=)
NM_182914.2(SYNE2):c.3102C>T (p.Ser1034=) rs886050580
NM_182914.2(SYNE2):c.3103G>A (p.Glu1035Lys) rs770698687
NM_182914.2(SYNE2):c.3177T>G (p.Asn1059Lys)
NM_182914.2(SYNE2):c.3267T>G (p.Phe1089Leu) rs201858632
NM_182914.2(SYNE2):c.3275C>T (p.Ala1092Val) rs1555421275
NM_182914.2(SYNE2):c.3311T>C (p.Met1104Thr)
NM_182914.2(SYNE2):c.3408G>T (p.Arg1136Ser) rs762347655
NM_182914.2(SYNE2):c.3452G>A (p.Cys1151Tyr) rs1555421819
NM_182914.2(SYNE2):c.3506G>A (p.Arg1169His) rs200437377
NM_182914.2(SYNE2):c.353A>T (p.Asp118Val) rs199860789
NM_182914.2(SYNE2):c.3550G>A (p.Val1184Met) rs377084463
NM_182914.2(SYNE2):c.3567G>T (p.Lys1189Asn) rs776221033
NM_182914.2(SYNE2):c.358A>C (p.Asn120His)
NM_182914.2(SYNE2):c.3715C>G (p.Leu1239Val) rs886050581
NM_182914.2(SYNE2):c.3739C>A (p.Gln1247Lys)
NM_182914.2(SYNE2):c.3797A>G (p.Asp1266Gly) rs752582359
NM_182914.2(SYNE2):c.3804A>G (p.Ile1268Met) rs753563194
NM_182914.2(SYNE2):c.3806C>T (p.Ala1269Val) rs757090585
NM_182914.2(SYNE2):c.3830G>A (p.Arg1277His) rs367549881
NM_182914.2(SYNE2):c.3885C>G (p.His1295Gln) rs570341792
NM_182914.2(SYNE2):c.4013C>T (p.Ser1338Phe)
NM_182914.2(SYNE2):c.4126C>T (p.His1376Tyr)
NM_182914.2(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282
NM_182914.2(SYNE2):c.4190C>A (p.Thr1397Asn) rs760136466
NM_182914.2(SYNE2):c.4252G>C (p.Val1418Leu)
NM_182914.2(SYNE2):c.4351A>G (p.Ser1451Gly) rs535438406
NM_182914.2(SYNE2):c.4418T>G (p.Leu1473Arg)
NM_182914.2(SYNE2):c.4587A>G (p.Gln1529=) rs774411048
NM_182914.2(SYNE2):c.4640T>C (p.Leu1547Ser)
NM_182914.2(SYNE2):c.4697G>A (p.Gly1566Glu)
NM_182914.2(SYNE2):c.4704G>C (p.Glu1568Asp) rs112802347
NM_182914.2(SYNE2):c.4738G>T (p.Val1580Phe) rs190340029
NM_182914.2(SYNE2):c.475G>T (p.Val159Phe) rs1323596481
NM_182914.2(SYNE2):c.478G>A (p.Asp160Asn) rs1566887934
NM_182914.2(SYNE2):c.4849G>A (p.Glu1617Lys)
NM_182914.2(SYNE2):c.4861A>C (p.Asn1621His) rs746284520
NM_182914.2(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942
NM_182914.2(SYNE2):c.4924G>A (p.Gly1642Ser) rs1555431607
NM_182914.2(SYNE2):c.4931C>T (p.Ala1644Val) rs771776215
NM_182914.2(SYNE2):c.4933C>G (p.Leu1645Val) rs1555431632
NM_182914.2(SYNE2):c.4994C>T (p.Ala1665Val) rs200143024
NM_182914.2(SYNE2):c.5098G>A (p.Val1700Met) rs372345929
NM_182914.2(SYNE2):c.5155A>G (p.Met1719Val) rs189676187
NM_182914.2(SYNE2):c.5159A>C (p.Glu1720Ala) rs1013597826
NM_182914.2(SYNE2):c.5174A>G (p.Asn1725Ser) rs200554446
NM_182914.2(SYNE2):c.521A>G (p.Lys174Arg) rs139238702
NM_182914.2(SYNE2):c.5284G>A (p.Gly1762Arg) rs754809587
NM_182914.2(SYNE2):c.5529A>G (p.Gln1843=)
NM_182914.2(SYNE2):c.5646G>T (p.Leu1882Phe)
NM_182914.2(SYNE2):c.5696A>G (p.Lys1899Arg) rs886050582
NM_182914.2(SYNE2):c.5710C>T (p.His1904Tyr) rs762428121
NM_182914.2(SYNE2):c.5726A>G (p.His1909Arg) rs750862490
NM_182914.2(SYNE2):c.5737C>T (p.Leu1913Phe) rs780436538
NM_182914.2(SYNE2):c.58G>T (p.Asp20Tyr) rs770930910
NM_182914.2(SYNE2):c.5915C>T (p.Pro1972Leu) rs113146258
NM_182914.2(SYNE2):c.593A>G (p.Tyr198Cys)
NM_182914.2(SYNE2):c.605A>G (p.Asn202Ser) rs746518493
NM_182914.2(SYNE2):c.6119C>T (p.Pro2040Leu)
NM_182914.2(SYNE2):c.6247A>T (p.Ile2083Phe) rs200739844
NM_182914.2(SYNE2):c.6404+5A>G
NM_182914.2(SYNE2):c.6511C>G (p.Leu2171Val) rs199743242
NM_182914.2(SYNE2):c.6579A>T (p.Gln2193His)
NM_182914.2(SYNE2):c.6685C>G (p.Leu2229Val) rs375543783
NM_182914.2(SYNE2):c.671G>A (p.Arg224Gln) rs764128650
NM_182914.2(SYNE2):c.6746G>A (p.Arg2249Gln) rs764036360
NM_182914.2(SYNE2):c.6764A>G (p.Gln2255Arg) rs750058499
NM_182914.2(SYNE2):c.6817G>C (p.Val2273Leu) rs1274502678
NM_182914.2(SYNE2):c.6880-4G>A rs776756586
NM_182914.2(SYNE2):c.7028A>G (p.Glu2343Gly)
NM_182914.2(SYNE2):c.7093C>T (p.Arg2365Cys) rs781422804
NM_182914.2(SYNE2):c.7139A>C (p.Lys2380Thr)
NM_182914.2(SYNE2):c.7223A>T (p.Asp2408Val)
NM_182914.2(SYNE2):c.7254A>C (p.Gln2418His) rs984046422
NM_182914.2(SYNE2):c.7297G>A (p.Glu2433Lys) rs376116911
NM_182914.2(SYNE2):c.7301G>A (p.Arg2434Gln) rs202200597
NM_182914.2(SYNE2):c.7310A>G (p.Asn2437Ser) rs373880647
NM_182914.2(SYNE2):c.7321A>G (p.Asn2441Asp)
NM_182914.2(SYNE2):c.7437A>T (p.Glu2479Asp)
NM_182914.2(SYNE2):c.7569A>T (p.Arg2523Ser)
NM_182914.2(SYNE2):c.7694C>T (p.Ala2565Val) rs200447122
NM_182914.2(SYNE2):c.7708G>A (p.Glu2570Lys) rs376507352
NM_182914.2(SYNE2):c.7720T>A (p.Leu2574Ile)
NM_182914.2(SYNE2):c.7762G>A (p.Val2588Met) rs373690979
NM_182914.2(SYNE2):c.7768G>C (p.Asp2590His) rs1555452706
NM_182914.2(SYNE2):c.7889C>A (p.Thr2630Asn)
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.8005A>G (p.Thr2669Ala) rs374946613
NM_182914.2(SYNE2):c.802G>A (p.Asp268Asn) rs1555400535
NM_182914.2(SYNE2):c.8069T>C (p.Met2690Thr) rs560226719
NM_182914.2(SYNE2):c.8148G>T (p.Leu2716Phe) rs529012269
NM_182914.2(SYNE2):c.8232G>T (p.Lys2744Asn) rs886050583
NM_182914.2(SYNE2):c.8249T>G (p.Leu2750Arg) rs750371615
NM_182914.2(SYNE2):c.8272C>T (p.Pro2758Ser) rs771389608
NM_182914.2(SYNE2):c.8348A>T (p.Glu2783Val) rs773304417
NM_182914.2(SYNE2):c.8417A>G (p.Asn2806Ser) rs765407182
NM_182914.2(SYNE2):c.8558G>A (p.Ser2853Asn)
NM_182914.2(SYNE2):c.8579G>C (p.Arg2860Thr) rs752110658
NM_182914.2(SYNE2):c.860A>T (p.Asp287Val)
NM_182914.2(SYNE2):c.865C>T (p.Pro289Ser) rs1459614876
NM_182914.2(SYNE2):c.8691G>C (p.Glu2897Asp) rs758754933
NM_182914.2(SYNE2):c.8786G>A (p.Arg2929Lys)
NM_182914.2(SYNE2):c.8849A>C (p.Glu2950Ala) rs540706990
NM_182914.2(SYNE2):c.8905C>G (p.Leu2969Val) rs773914389
NM_182914.2(SYNE2):c.8911C>G (p.Gln2971Glu) rs200909650
NM_182914.2(SYNE2):c.892A>C (p.Lys298Gln) rs866911879
NM_182914.2(SYNE2):c.8991G>A (p.Gln2997=) rs773209564
NM_182914.2(SYNE2):c.9088G>A (p.Glu3030Lys)
NM_182914.2(SYNE2):c.9241C>T (p.Arg3081Trp)
NM_182914.2(SYNE2):c.9396G>A (p.Lys3132=) rs566182360
NM_182914.2(SYNE2):c.9404A>G (p.Lys3135Arg) rs376121197
NM_182914.2(SYNE2):c.9610T>G (p.Cys3204Gly)
NM_182914.2(SYNE2):c.9700G>C (p.Glu3234Gln) rs372597797
NM_182914.2(SYNE2):c.9717G>T (p.Gln3239His) rs1428818552
NM_182914.2(SYNE2):c.9812G>A (p.Ser3271Asn) rs756481940
NM_182914.2(SYNE2):c.9873A>G (p.Glu3291=) rs747745836
NM_182914.2(SYNE2):c.9893G>A (p.Arg3298Gln) rs770399154
NM_182914.2(SYNE2):c.9925_9926inv (p.His3309Cys)
NM_182914.2(SYNE2):c.9926A>T (p.His3309Leu) rs8010699
NM_182914.2(SYNE2):c.9943G>A (p.Glu3315Lys) rs372982837
NM_182914.3(SYNE2):c.*372T>C
NM_182914.3(SYNE2):c.*521A>G
NM_182914.3(SYNE2):c.*574A>G
NM_182914.3(SYNE2):c.*807G>A
NM_182914.3(SYNE2):c.*819G>A
NM_182914.3(SYNE2):c.*820T>G
NM_182914.3(SYNE2):c.*824G>A
NM_182914.3(SYNE2):c.-149G>A
NM_182914.3(SYNE2):c.-52G>A
NM_182914.3(SYNE2):c.10275A>C (p.Arg3425Ser)
NM_182914.3(SYNE2):c.10378T>C (p.Trp3460Arg)
NM_182914.3(SYNE2):c.10431+6T>A
NM_182914.3(SYNE2):c.10631G>T (p.Ser3544Ile)
NM_182914.3(SYNE2):c.10669A>T (p.Ile3557Phe)
NM_182914.3(SYNE2):c.10721A>G (p.Asn3574Ser)
NM_182914.3(SYNE2):c.10802A>G (p.Gln3601Arg)
NM_182914.3(SYNE2):c.10864G>C (p.Glu3622Gln)
NM_182914.3(SYNE2):c.10990T>C (p.Cys3664Arg)
NM_182914.3(SYNE2):c.11023-14T>C
NM_182914.3(SYNE2):c.1105G>A (p.Ala369Thr)
NM_182914.3(SYNE2):c.11468A>G (p.His3823Arg)
NM_182914.3(SYNE2):c.114G>A (p.Thr38=)
NM_182914.3(SYNE2):c.11652G>T (p.Gln3884His)
NM_182914.3(SYNE2):c.11956G>A (p.Glu3986Lys)
NM_182914.3(SYNE2):c.11G>A (p.Ser4Asn)
NM_182914.3(SYNE2):c.12066A>G (p.Glu4022=)
NM_182914.3(SYNE2):c.12125T>C (p.Met4042Thr)
NM_182914.3(SYNE2):c.12253G>T (p.Ala4085Ser)
NM_182914.3(SYNE2):c.12314G>A (p.Arg4105Lys)
NM_182914.3(SYNE2):c.12368C>G (p.Ser4123Cys)
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr)
NM_182914.3(SYNE2):c.12510A>G (p.Ile4170Met)
NM_182914.3(SYNE2):c.12547C>T (p.Pro4183Ser)
NM_182914.3(SYNE2):c.12767A>G (p.Asn4256Ser)
NM_182914.3(SYNE2):c.13159-3C>T
NM_182914.3(SYNE2):c.13371T>G (p.His4457Gln)
NM_182914.3(SYNE2):c.13422+6T>C
NM_182914.3(SYNE2):c.13534G>A (p.Ala4512Thr)
NM_182914.3(SYNE2):c.13612C>T (p.Leu4538=)
NM_182914.3(SYNE2):c.13622G>A (p.Ser4541Asn)
NM_182914.3(SYNE2):c.13630C>T (p.Leu4544Phe)
NM_182914.3(SYNE2):c.13814A>C (p.Glu4605Ala)
NM_182914.3(SYNE2):c.14378T>C (p.Ile4793Thr)
NM_182914.3(SYNE2):c.14527T>C (p.Phe4843Leu)
NM_182914.3(SYNE2):c.14560C>G (p.Leu4854Val)
NM_182914.3(SYNE2):c.14676C>A (p.His4892Gln)
NM_182914.3(SYNE2):c.14908T>C (p.Trp4970Arg)
NM_182914.3(SYNE2):c.15092C>A (p.Ala5031Glu)
NM_182914.3(SYNE2):c.15159+1G>T
NM_182914.3(SYNE2):c.15189A>C (p.Lys5063Asn)
NM_182914.3(SYNE2):c.15233A>C (p.Gln5078Pro)
NM_182914.3(SYNE2):c.15243T>G (p.Asp5081Glu)
NM_182914.3(SYNE2):c.15441G>T (p.Met5147Ile)
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His)
NM_182914.3(SYNE2):c.15484-3T>C
NM_182914.3(SYNE2):c.15659C>G (p.Ala5220Gly)
NM_182914.3(SYNE2):c.15788C>T (p.Thr5263Ile)
NM_182914.3(SYNE2):c.15869A>G (p.Asn5290Ser)
NM_182914.3(SYNE2):c.16024G>A (p.Gly5342Ser)
NM_182914.3(SYNE2):c.16094+4T>A
NM_182914.3(SYNE2):c.16524T>C (p.Ser5508=)
NM_182914.3(SYNE2):c.16753C>T (p.Arg5585Cys)
NM_182914.3(SYNE2):c.16761-10A>G
NM_182914.3(SYNE2):c.16845A>G (p.Ala5615=)
NM_182914.3(SYNE2):c.16854G>A (p.Val5618=)
NM_182914.3(SYNE2):c.16901A>G (p.Tyr5634Cys)
NM_182914.3(SYNE2):c.16905+4A>C
NM_182914.3(SYNE2):c.17115C>T (p.Phe5705=)
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His)
NM_182914.3(SYNE2):c.17328T>C (p.Thr5776=)
NM_182914.3(SYNE2):c.17672T>C (p.Ile5891Thr)
NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=)
NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=)
NM_182914.3(SYNE2):c.17908A>T (p.Lys5970Ter)
NM_182914.3(SYNE2):c.18015T>C (p.His6005=)
NM_182914.3(SYNE2):c.18312_18316del (p.Ser6105fs)
NM_182914.3(SYNE2):c.18566G>A (p.Arg6189Gln)
NM_182914.3(SYNE2):c.18631A>G (p.Thr6211Ala)
NM_182914.3(SYNE2):c.18660C>T (p.His6220=)
NM_182914.3(SYNE2):c.18691A>G (p.Arg6231Gly)
NM_182914.3(SYNE2):c.18851G>A (p.Arg6284His)
NM_182914.3(SYNE2):c.19394C>T (p.Ala6465Val)
NM_182914.3(SYNE2):c.19402+10C>T
NM_182914.3(SYNE2):c.19543-8C>A
NM_182914.3(SYNE2):c.1996C>A (p.Gln666Lys)
NM_182914.3(SYNE2):c.19985G>T (p.Ser6662Ile)
NM_182914.3(SYNE2):c.20038C>G (p.Arg6680Gly)
NM_182914.3(SYNE2):c.20039G>A (p.Arg6680Gln)
NM_182914.3(SYNE2):c.20068C>T (p.His6690Tyr)
NM_182914.3(SYNE2):c.20102C>T (p.Ala6701Val)
NM_182914.3(SYNE2):c.20296_20298GAA[1] (p.Glu6767del)
NM_182914.3(SYNE2):c.20381A>G (p.Gln6794Arg)
NM_182914.3(SYNE2):c.20551C>T (p.Leu6851Phe)
NM_182914.3(SYNE2):c.20595_20612del (p.Leu6866_Leu6871del)
NM_182914.3(SYNE2):c.20637_20639AGA[1] (p.Glu6880del)
NM_182914.3(SYNE2):c.2300A>T (p.Glu767Val)
NM_182914.3(SYNE2):c.2314-9T>C
NM_182914.3(SYNE2):c.2558C>G (p.Ser853Cys)
NM_182914.3(SYNE2):c.2744T>C (p.Leu915Ser)
NM_182914.3(SYNE2):c.2781+4A>G
NM_182914.3(SYNE2):c.2781+5G>A
NM_182914.3(SYNE2):c.287A>G (p.His96Arg)
NM_182914.3(SYNE2):c.28G>C (p.Glu10Gln)
NM_182914.3(SYNE2):c.2900T>C (p.Ile967Thr)
NM_182914.3(SYNE2):c.3272T>C (p.Leu1091Pro)
NM_182914.3(SYNE2):c.3287G>A (p.Arg1096Lys)
NM_182914.3(SYNE2):c.3325A>G (p.Ser1109Gly)
NM_182914.3(SYNE2):c.3445A>C (p.Ser1149Arg)
NM_182914.3(SYNE2):c.3696_3698TCT[1] (p.Leu1234del)
NM_182914.3(SYNE2):c.3788A>C (p.Asn1263Thr)
NM_182914.3(SYNE2):c.3829C>T (p.Arg1277Cys)
NM_182914.3(SYNE2):c.3883C>A (p.His1295Asn)
NM_182914.3(SYNE2):c.4222A>G (p.Ile1408Val)
NM_182914.3(SYNE2):c.4231T>C (p.Ser1411Pro)
NM_182914.3(SYNE2):c.4235A>G (p.Glu1412Gly)
NM_182914.3(SYNE2):c.424C>G (p.Gln142Glu)
NM_182914.3(SYNE2):c.4309A>G (p.Asn1437Asp)
NM_182914.3(SYNE2):c.4375A>C (p.Thr1459Pro)
NM_182914.3(SYNE2):c.4398-11T>A
NM_182914.3(SYNE2):c.4474A>G (p.Asn1492Asp)
NM_182914.3(SYNE2):c.4513G>A (p.Val1505Met)
NM_182914.3(SYNE2):c.4523A>G (p.Gln1508Arg)
NM_182914.3(SYNE2):c.4585C>T (p.Gln1529Ter)
NM_182914.3(SYNE2):c.4728+9A>G
NM_182914.3(SYNE2):c.5068G>A (p.Glu1690Lys)
NM_182914.3(SYNE2):c.5084A>G (p.Glu1695Gly)
NM_182914.3(SYNE2):c.5423C>G (p.Thr1808Ser)
NM_182914.3(SYNE2):c.5728G>A (p.Val1910Met)
NM_182914.3(SYNE2):c.5796G>T (p.Gln1932His)
NM_182914.3(SYNE2):c.5801G>A (p.Arg1934Gln)
NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=)
NM_182914.3(SYNE2):c.5895A>G (p.Lys1965=)
NM_182914.3(SYNE2):c.6011G>A (p.Gly2004Glu)
NM_182914.3(SYNE2):c.6058G>C (p.Asp2020His)
NM_182914.3(SYNE2):c.6172A>G (p.Lys2058Glu)
NM_182914.3(SYNE2):c.6302T>C (p.Met2101Thr)
NM_182914.3(SYNE2):c.6307C>G (p.Gln2103Glu)
NM_182914.3(SYNE2):c.6329C>T (p.Pro2110Leu)
NM_182914.3(SYNE2):c.6470T>C (p.Met2157Thr)
NM_182914.3(SYNE2):c.6742G>A (p.Val2248Ile)
NM_182914.3(SYNE2):c.6907G>A (p.Asp2303Asn)
NM_182914.3(SYNE2):c.718G>A (p.Asp240Asn)
NM_182914.3(SYNE2):c.7877A>G (p.Asp2626Gly)
NM_182914.3(SYNE2):c.79+3A>T
NM_182914.3(SYNE2):c.79+5T>A
NM_182914.3(SYNE2):c.7974A>C (p.Glu2658Asp)
NM_182914.3(SYNE2):c.8013C>G (p.Asp2671Glu)
NM_182914.3(SYNE2):c.8171A>T (p.Glu2724Val)
NM_182914.3(SYNE2):c.8351C>T (p.Ser2784Leu)
NM_182914.3(SYNE2):c.8775C>T (p.Asn2925=)
NM_182914.3(SYNE2):c.888+13A>G
NM_182914.3(SYNE2):c.9345C>G (p.Phe3115Leu)
NM_182914.3(SYNE2):c.9618T>C (p.Ile3206=)
NM_182914.3(SYNE2):c.9733G>T (p.Asp3245Tyr)
NM_182914.3(SYNE2):c.9999A>T (p.Leu3333Phe)

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