ClinVar Miner

List of variants reported as uncertain significance for Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 403
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HGVS dbSNP
NC_000006.11:g.(?_152443551)_(152534914_?)dup
NM_033071.3(SYNE1):c.10081G>C (p.Glu3361Gln) rs773410652
NM_033071.3(SYNE1):c.10133C>T (p.Ala3378Val) rs748579024
NM_033071.3(SYNE1):c.10202A>T (p.Tyr3401Phe)
NM_033071.3(SYNE1):c.1055A>C (p.Gln352Pro)
NM_033071.3(SYNE1):c.10618C>A (p.Arg3540Ser) rs776816480
NM_033071.3(SYNE1):c.1068+4T>G
NM_033071.3(SYNE1):c.10730G>A (p.Arg3577Gln)
NM_033071.3(SYNE1):c.11134A>C (p.Asn3712His)
NM_033071.3(SYNE1):c.11384C>T (p.Thr3795Met) rs375577011
NM_033071.3(SYNE1):c.11441C>T (p.Thr3814Ile)
NM_033071.3(SYNE1):c.11611C>A (p.Leu3871Met)
NM_033071.3(SYNE1):c.11623G>A (p.Val3875Ile)
NM_033071.3(SYNE1):c.11624T>A (p.Val3875Asp)
NM_033071.3(SYNE1):c.11786C>A (p.Ala3929Glu)
NM_033071.3(SYNE1):c.11822G>A (p.Gly3941Asp)
NM_033071.3(SYNE1):c.11909G>A (p.Arg3970Gln) rs771461121
NM_033071.3(SYNE1):c.11914G>A (p.Asp3972Asn)
NM_033071.3(SYNE1):c.11968C>T (p.Pro3990Ser) rs780777858
NM_033071.3(SYNE1):c.11969C>T (p.Pro3990Leu) rs148036239
NM_033071.3(SYNE1):c.11990G>A (p.Ser3997Asn)
NM_033071.3(SYNE1):c.12004A>G (p.Ile4002Val) rs886044158
NM_033071.3(SYNE1):c.12078T>G (p.Cys4026Trp) rs1554492224
NM_033071.3(SYNE1):c.12138+4A>C rs375086691
NM_033071.3(SYNE1):c.12454C>T (p.Arg4152Cys)
NM_033071.3(SYNE1):c.12521G>A (p.Cys4174Tyr)
NM_033071.3(SYNE1):c.12582A>G (p.Arg4194=) rs1554474578
NM_033071.3(SYNE1):c.12837G>T (p.Gln4279His) rs34464554
NM_033071.3(SYNE1):c.12889G>A (p.Ala4297Thr) rs201900423
NM_033071.3(SYNE1):c.13222C>T (p.Arg4408Cys) rs778601377
NM_033071.3(SYNE1):c.13223G>A (p.Arg4408His) rs768085752
NM_033071.3(SYNE1):c.13223G>T (p.Arg4408Leu)
NM_033071.3(SYNE1):c.13319C>T (p.Thr4440Ile) rs1554471456
NM_033071.3(SYNE1):c.13415A>T (p.Tyr4472Phe) rs138770612
NM_033071.3(SYNE1):c.13538T>A (p.Val4513Asp) rs968829958
NM_033071.3(SYNE1):c.13636A>C (p.Asn4546His) rs147667464
NM_033071.3(SYNE1):c.13638_13640TCT[1] (p.Leu4549del) rs1085307610
NM_033071.3(SYNE1):c.13736G>A (p.Arg4579Gln)
NM_033071.3(SYNE1):c.13739A>G (p.Gln4580Arg) rs374697325
NM_033071.3(SYNE1):c.13805G>A (p.Arg4602Gln) rs144963785
NM_033071.3(SYNE1):c.13903G>A (p.Val4635Ile)
NM_033071.3(SYNE1):c.13939G>A (p.Ala4647Thr)
NM_033071.3(SYNE1):c.14152C>G (p.Gln4718Glu)
NM_033071.3(SYNE1):c.14210C>T (p.Thr4737Met) rs373040273
NM_033071.3(SYNE1):c.14458A>G (p.Thr4820Ala)
NM_033071.3(SYNE1):c.14689G>A (p.Ala4897Thr) rs745978878
NM_033071.3(SYNE1):c.14732G>A (p.Arg4911His) rs754495941
NM_033071.3(SYNE1):c.14742G>C (p.Gln4914His) rs890021376
NM_033071.3(SYNE1):c.148G>A (p.Val50Met)
NM_033071.3(SYNE1):c.15448A>G (p.Lys5150Glu) rs764500952
NM_033071.3(SYNE1):c.15695G>C (p.Arg5232Pro) rs537825329
NM_033071.3(SYNE1):c.15808G>A (p.Glu5270Lys) rs765080592
NM_033071.3(SYNE1):c.16024-3delT rs752661566
NM_033071.3(SYNE1):c.16340G>A (p.Arg5447Gln) rs150604289
NM_033071.3(SYNE1):c.16380A>T (p.Glu5460Asp) rs769306377
NM_033071.3(SYNE1):c.16474C>T (p.Arg5492Trp) rs375097544
NM_033071.3(SYNE1):c.16619G>A (p.Arg5540Gln)
NM_033071.3(SYNE1):c.16637G>A (p.Arg5546Gln) rs141550859
NM_033071.3(SYNE1):c.16801C>T (p.Arg5601Trp) rs780794124
NM_033071.3(SYNE1):c.16816T>C (p.Ser5606Pro)
NM_033071.3(SYNE1):c.16937A>C (p.Glu5646Ala) rs780396166
NM_033071.3(SYNE1):c.169A>G (p.Met57Val) rs1031712545
NM_033071.3(SYNE1):c.17119A>G (p.Ile5707Val)
NM_033071.3(SYNE1):c.17206A>G (p.Met5736Val) rs763218931
NM_033071.3(SYNE1):c.17245G>A (p.Glu5749Lys)
NM_033071.3(SYNE1):c.1729T>C (p.Tyr577His) rs199962439
NM_033071.3(SYNE1):c.17329-5G>A rs776747142
NM_033071.3(SYNE1):c.17426G>T (p.Arg5809Leu) rs767844376
NM_033071.3(SYNE1):c.17635G>C (p.Val5879Leu) rs200589166
NM_033071.3(SYNE1):c.17761C>G (p.Pro5921Ala) rs200701182
NM_033071.3(SYNE1):c.17777A>G (p.Glu5926Gly) rs1554363340
NM_033071.3(SYNE1):c.17791G>A (p.Glu5931Lys)
NM_033071.3(SYNE1):c.17867A>G (p.Glu5956Gly) rs780920250
NM_033071.3(SYNE1):c.17890G>T (p.Ala5964Ser)
NM_033071.3(SYNE1):c.17893G>C (p.Asp5965His) rs147615757
NM_033071.3(SYNE1):c.17995-4A>G
NM_033071.3(SYNE1):c.17995G>A (p.Glu5999Lys) rs886043015
NM_033071.3(SYNE1):c.18357G>A (p.Met6119Ile) rs886044368
NM_033071.3(SYNE1):c.18389A>T (p.Asp6130Val)
NM_033071.3(SYNE1):c.18407C>T (p.Thr6136Met)
NM_033071.3(SYNE1):c.18418G>A (p.Gly6140Ser) rs149624155
NM_033071.3(SYNE1):c.18467G>T (p.Arg6156Leu) rs778929049
NM_033071.3(SYNE1):c.18547C>T (p.Arg6183Cys) rs139449273
NM_033071.3(SYNE1):c.18802T>G (p.Tyr6268Asp)
NM_033071.3(SYNE1):c.1882A>G (p.Thr628Ala) rs146618884
NM_033071.3(SYNE1):c.18901G>A (p.Ala6301Thr) rs769911507
NM_033071.3(SYNE1):c.18904A>G (p.Lys6302Glu) rs1554285472
NM_033071.3(SYNE1):c.18917T>C (p.Ile6306Thr)
NM_033071.3(SYNE1):c.19132G>T (p.Asp6378Tyr) rs1315831856
NM_033071.3(SYNE1):c.19173G>C (p.Leu6391Phe) rs1453005046
NM_033071.3(SYNE1):c.19211G>A (p.Arg6404Gln) rs781427258
NM_033071.3(SYNE1):c.19270G>A (p.Val6424Met)
NM_033071.3(SYNE1):c.1934A>G (p.Gln645Arg) rs1554756030
NM_033071.3(SYNE1):c.19423C>T (p.Arg6475Cys)
NM_033071.3(SYNE1):c.19816G>T (p.Ala6606Ser)
NM_033071.3(SYNE1):c.19944G>C (p.Glu6648Asp) rs769305344
NM_033071.3(SYNE1):c.19946A>C (p.Glu6649Ala) rs367790193
NM_033071.3(SYNE1):c.19970G>A (p.Arg6657His) rs139384691
NM_033071.3(SYNE1):c.20333T>C (p.Val6778Ala) rs886043522
NM_033071.3(SYNE1):c.20336A>T (p.Asp6779Val) rs773506774
NM_033071.3(SYNE1):c.20499+7A>T
NM_033071.3(SYNE1):c.20744G>A (p.Arg6915His) rs772675312
NM_033071.3(SYNE1):c.20816T>A (p.Val6939Glu) rs141275966
NM_033071.3(SYNE1):c.20826+6C>G rs368575705
NM_033071.3(SYNE1):c.20976C>G (p.Asp6992Glu) rs139062689
NM_033071.3(SYNE1):c.21058A>C (p.Asn7020His) rs777618601
NM_033071.3(SYNE1):c.21289G>A (p.Val7097Ile) rs760451139
NM_033071.3(SYNE1):c.21298G>A (p.Asp7100Asn)
NM_033071.3(SYNE1):c.21347T>C (p.Leu7116Ser) rs778441411
NM_033071.3(SYNE1):c.21389G>A (p.Cys7130Tyr) rs794727041
NM_033071.3(SYNE1):c.21400G>A (p.Val7134Met) rs377449974
NM_033071.3(SYNE1):c.21776G>T (p.Ser7259Ile)
NM_033071.3(SYNE1):c.21847T>C (p.Tyr7283His)
NM_033071.3(SYNE1):c.21905A>T (p.Glu7302Val)
NM_033071.3(SYNE1):c.21940G>A (p.Asp7314Asn) rs886043280
NM_033071.3(SYNE1):c.21958G>A (p.Glu7320Lys) rs751761981
NM_033071.3(SYNE1):c.22192A>G (p.Met7398Val)
NM_033071.3(SYNE1):c.22232A>G (p.Glu7411Gly)
NM_033071.3(SYNE1):c.22280A>C (p.Glu7427Ala) rs774655615
NM_033071.3(SYNE1):c.22307G>A (p.Arg7436His)
NM_033071.3(SYNE1):c.22376+4G>T rs563408259
NM_033071.3(SYNE1):c.225+5G>C
NM_033071.3(SYNE1):c.22660G>C (p.Val7554Leu) rs749743156
NM_033071.3(SYNE1):c.22683_22685del (p.Leu7562del) rs1360697609
NM_033071.3(SYNE1):c.22773A>C (p.Glu7591Asp) rs763100950
NM_033071.3(SYNE1):c.22838A>T (p.Asp7613Val) rs139077054
NM_033071.3(SYNE1):c.22889C>T (p.Pro7630Leu)
NM_033071.3(SYNE1):c.22949T>C (p.Val7650Ala)
NM_033071.3(SYNE1):c.22983C>G (p.Ser7661Arg) rs1554518143
NM_033071.3(SYNE1):c.23009A>G (p.Tyr7670Cys) rs34974663
NM_033071.3(SYNE1):c.23035C>T (p.Leu7679Phe)
NM_033071.3(SYNE1):c.2320A>C (p.Thr774Pro)
NM_033071.3(SYNE1):c.23349G>T (p.Glu7783Asp) rs894257787
NM_033071.3(SYNE1):c.23494C>T (p.His7832Tyr) rs886042801
NM_033071.3(SYNE1):c.23722C>T (p.Arg7908Trp) rs762991088
NM_033071.3(SYNE1):c.23737T>C (p.Cys7913Arg)
NM_033071.3(SYNE1):c.23777C>T (p.Thr7926Met) rs757366114
NM_033071.3(SYNE1):c.2380_2381delinsAA (p.Ala794Lys)
NM_033071.3(SYNE1):c.23978G>A (p.Arg7993His) rs1042685641
NM_033071.3(SYNE1):c.23981G>A (p.Arg7994His)
NM_033071.3(SYNE1):c.23998C>T (p.Arg8000Cys)
NM_033071.3(SYNE1):c.24125T>G (p.Phe8042Cys) rs769930534
NM_033071.3(SYNE1):c.24141C>G (p.Asp8047Glu) rs149940427
NM_033071.3(SYNE1):c.242G>A (p.Arg81His) rs761189574
NM_033071.3(SYNE1):c.24392G>A (p.Arg8131His) rs376102438
NM_033071.3(SYNE1):c.24421C>T (p.Arg8141Cys) rs139885317
NM_033071.3(SYNE1):c.24439G>A (p.Asp8147Asn) rs267600861
NM_033071.3(SYNE1):c.244C>T (p.Arg82Trp) rs772761179
NM_033071.3(SYNE1):c.24571G>A (p.Ala8191Thr) rs886043013
NM_033071.3(SYNE1):c.245G>T (p.Arg82Leu) rs143900928
NM_033071.3(SYNE1):c.24619G>A (p.Val8207Met)
NM_033071.3(SYNE1):c.24746G>A (p.Gly8249Glu)
NM_033071.3(SYNE1):c.24759A>C (p.Leu8253Phe) rs1554420700
NM_033071.3(SYNE1):c.24769A>T (p.Met8257Leu) rs372305836
NM_033071.3(SYNE1):c.24832+3A>G
NM_033071.3(SYNE1):c.24847C>G (p.Leu8283Val) rs776807564
NM_033071.3(SYNE1):c.24902T>C (p.Ile8301Thr) rs927451522
NM_033071.3(SYNE1):c.24942G>A (p.Thr8314=) rs377302991
NM_033071.3(SYNE1):c.25424G>A (p.Arg8475His) rs759577495
NM_033071.3(SYNE1):c.25493A>G (p.Gln8498Arg) rs529921934
NM_033071.3(SYNE1):c.2549G>A (p.Arg850His) rs191723029
NM_033071.3(SYNE1):c.25561A>G (p.Ile8521Val) rs1260198851
NM_033071.3(SYNE1):c.25642A>G (p.Met8548Val) rs746864807
NM_033071.3(SYNE1):c.25857+4A>G rs746958913
NM_033071.3(SYNE1):c.25879G>A (p.Ala8627Thr) rs1554376325
NM_033071.3(SYNE1):c.25900G>C (p.Gly8634Arg) rs201664645
NM_033071.3(SYNE1):c.2705C>T (p.Thr902Met) rs373633207
NM_033071.3(SYNE1):c.2749A>T (p.Ser917Cys) rs141214076
NM_033071.3(SYNE1):c.2782C>T (p.His928Tyr)
NM_033071.3(SYNE1):c.2980G>A (p.Asp994Asn)
NM_033071.3(SYNE1):c.3152G>A (p.Arg1051Gln) rs199888697
NM_033071.3(SYNE1):c.3277G>A (p.Val1093Met)
NM_033071.3(SYNE1):c.3454A>G (p.Thr1152Ala) rs148733093
NM_033071.3(SYNE1):c.3467G>A (p.Gly1156Glu)
NM_033071.3(SYNE1):c.3475G>A (p.Gly1159Ser) rs749547744
NM_033071.3(SYNE1):c.3520G>A (p.Val1174Ile)
NM_033071.3(SYNE1):c.3938T>C (p.Leu1313Pro)
NM_033071.3(SYNE1):c.3954C>A (p.His1318Gln) rs774093065
NM_033071.3(SYNE1):c.4003C>T (p.Arg1335Trp) rs1465224604
NM_033071.3(SYNE1):c.4053A>G (p.Arg1351=) rs762887399
NM_033071.3(SYNE1):c.4142G>A (p.Ser1381Asn) rs1554707111
NM_033071.3(SYNE1):c.4146A>T (p.Leu1382Phe) rs544182159
NM_033071.3(SYNE1):c.4177T>C (p.Ser1393Pro) rs1554696981
NM_033071.3(SYNE1):c.41T>A (p.Ile14Asn)
NM_033071.3(SYNE1):c.4295A>T (p.Glu1432Val) rs767783076
NM_033071.3(SYNE1):c.4432G>A (p.Ala1478Thr) rs1350630909
NM_033071.3(SYNE1):c.4460A>G (p.Asp1487Gly)
NM_033071.3(SYNE1):c.4545G>T (p.Gln1515His) rs1378400021
NM_033071.3(SYNE1):c.4549T>C (p.Phe1517Leu) rs1554687302
NM_033071.3(SYNE1):c.4689G>C (p.Lys1563Asn) rs774194598
NM_033071.3(SYNE1):c.4697A>T (p.Glu1566Val) rs1554686616
NM_033071.3(SYNE1):c.5053G>A (p.Ala1685Thr) rs1554680800
NM_033071.3(SYNE1):c.5077T>C (p.Ser1693Pro)
NM_033071.3(SYNE1):c.5167C>G (p.Leu1723Val)
NM_033071.3(SYNE1):c.5191T>C (p.Phe1731Leu) rs141996707
NM_033071.3(SYNE1):c.529C>T (p.Arg177Trp) rs777175001
NM_033071.3(SYNE1):c.5381A>G (p.Glu1794Gly) rs201366911
NM_033071.3(SYNE1):c.5696A>G (p.Glu1899Gly) rs757761843
NM_033071.3(SYNE1):c.5801A>G (p.Asp1934Gly) rs144732736
NM_033071.3(SYNE1):c.5849A>G (p.Glu1950Gly) rs963256304
NM_033071.3(SYNE1):c.6206G>T (p.Arg2069Leu) rs542032376
NM_033071.3(SYNE1):c.6340A>G (p.Ser2114Gly)
NM_033071.3(SYNE1):c.6353C>T (p.Thr2118Ile) rs760835706
NM_033071.3(SYNE1):c.6571A>G (p.Lys2191Glu)
NM_033071.3(SYNE1):c.7003A>G (p.Met2335Val) rs1250755900
NM_033071.3(SYNE1):c.7005G>A (p.Met2335Ile) rs372524102
NM_033071.3(SYNE1):c.7097C>A (p.Thr2366Asn) rs142747430
NM_033071.3(SYNE1):c.7423C>G (p.Gln2475Glu)
NM_033071.3(SYNE1):c.7544A>T (p.Gln2515Leu) rs201127061
NM_033071.3(SYNE1):c.7624G>A (p.Glu2542Lys)
NM_033071.3(SYNE1):c.7796G>T (p.Gly2599Val)
NM_033071.3(SYNE1):c.7954G>A (p.Asp2652Asn) rs775185806
NM_033071.3(SYNE1):c.8009G>T (p.Arg2670Leu) rs370644295
NM_033071.3(SYNE1):c.802G>A (p.Val268Ile) rs144069436
NM_033071.3(SYNE1):c.8090A>C (p.Gln2697Pro)
NM_033071.3(SYNE1):c.8332G>A (p.Val2778Ile) rs374862218
NM_033071.3(SYNE1):c.83T>G (p.Val28Gly) rs1554878579
NM_033071.3(SYNE1):c.8726C>T (p.Ser2909Leu) rs576979843
NM_033071.3(SYNE1):c.8783C>T (p.Thr2928Met) rs371229610
NM_033071.3(SYNE1):c.8800C>G (p.Arg2934Gly) rs372633466
NM_033071.3(SYNE1):c.8806G>A (p.Asp2936Asn) rs143313866
NM_033071.3(SYNE1):c.883G>A (p.Ala295Thr) rs770907182
NM_033071.3(SYNE1):c.8860C>G (p.Leu2954Val) rs756300560
NM_033071.3(SYNE1):c.8909C>A (p.Ala2970Asp) rs570962334
NM_033071.3(SYNE1):c.9061C>T (p.Pro3021Ser) rs200939886
NM_033071.3(SYNE1):c.9073G>T (p.Asp3025Tyr)
NM_033071.3(SYNE1):c.9301C>A (p.Pro3101Thr)
NM_033071.3(SYNE1):c.9415A>T (p.Ser3139Cys) rs138481762
NM_033071.3(SYNE1):c.9598G>A (p.Glu3200Lys)
NM_033071.3(SYNE1):c.962G>T (p.Arg321Ile) rs1554795128
NM_033071.3(SYNE1):c.9754G>T (p.Ala3252Ser) rs753548717
NM_033071.3(SYNE1):c.9809C>T (p.Ala3270Val) rs780460827
NM_033071.3(SYNE1):c.9828+6G>A rs376694958
NM_033071.3(SYNE1):c.9955G>A (p.Asp3319Asn) rs147281213
NM_033071.3(SYNE1):c.9974G>A (p.Ser3325Asn) rs746689638
NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu) rs748499952
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys)
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587
NM_182961.4(SYNE1):c.10784A>G (p.Asn3595Ser) rs148212715
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met) rs143034104
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744
NM_182961.4(SYNE1):c.11309A>G (p.Lys3770Arg)
NM_182961.4(SYNE1):c.11413C>T (p.Arg3805Trp)
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser) rs180727534
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile) rs199774691
NM_182961.4(SYNE1):c.12391G>T (p.Gly4131Cys) rs139139296
NM_182961.4(SYNE1):c.12829G>A (p.Ala4277Thr)
NM_182961.4(SYNE1):c.12901A>G (p.Lys4301Glu)
NM_182961.4(SYNE1):c.1330C>T (p.Arg444Trp) rs75153800
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013
NM_182961.4(SYNE1):c.13718A>C (p.Lys4573Thr)
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238
NM_182961.4(SYNE1):c.13832A>C (p.Gln4611Pro)
NM_182961.4(SYNE1):c.13895C>T (p.Ser4632Leu)
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn) rs142388112
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg) rs141397112
NM_182961.4(SYNE1):c.14164G>A (p.Glu4722Lys) rs35484093
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln) rs141883764
NM_182961.4(SYNE1):c.14577G>C (p.Gln4859His) rs369433602
NM_182961.4(SYNE1):c.14695T>C (p.Trp4899Arg)
NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser) rs201306174
NM_182961.4(SYNE1):c.1502T>C (p.Met501Thr) rs202149617
NM_182961.4(SYNE1):c.15089A>G (p.Glu5030Gly) rs1563087715
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) rs138368397
NM_182961.4(SYNE1):c.15580C>T (p.Arg5194Cys)
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806
NM_182961.4(SYNE1):c.1632+6T>C rs758756977
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp) rs377410590
NM_182961.4(SYNE1):c.16619T>C (p.Leu5540Ser) rs1563012099
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604
NM_182961.4(SYNE1):c.17347G>C (p.Glu5783Gln) rs754105532
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys) rs142229551
NM_182961.4(SYNE1):c.18622C>G (p.Gln6208Glu) rs558425673
NM_182961.4(SYNE1):c.18655G>C (p.Ala6219Pro)
NM_182961.4(SYNE1):c.18817G>A (p.Glu6273Lys) rs201346604
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His) rs759556319
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe) rs141934037
NM_182961.4(SYNE1):c.19228G>A (p.Glu6410Lys) rs143554730
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu) rs150700669
NM_182961.4(SYNE1):c.19276A>C (p.Ile6426Leu)
NM_182961.4(SYNE1):c.19351C>G (p.Arg6451Gly)
NM_182961.4(SYNE1):c.19438A>C (p.Lys6480Gln)
NM_182961.4(SYNE1):c.19544T>C (p.Phe6515Ser) rs747674900
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947
NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp) rs766241487
NM_182961.4(SYNE1):c.19729C>T (p.Arg6577Trp) rs368534747
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338
NM_182961.4(SYNE1):c.19893+6T>C rs377413112
NM_182961.4(SYNE1):c.20111A>T (p.Gln6704Leu) rs1189558235
NM_182961.4(SYNE1):c.20143G>A (p.Val6715Met) rs145185413
NM_182961.4(SYNE1):c.2030G>A (p.Arg677His) rs767684007
NM_182961.4(SYNE1):c.20441C>T (p.Ala6814Val) rs1562385964
NM_182961.4(SYNE1):c.20692G>A (p.Val6898Ile)
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln) rs143639400
NM_182961.4(SYNE1):c.21349A>T (p.Met7117Leu)
NM_182961.4(SYNE1):c.21469C>T (p.Arg7157Cys)
NM_182961.4(SYNE1):c.2147G>A (p.Cys716Tyr)
NM_182961.4(SYNE1):c.2174C>T (p.Thr725Met)
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln) rs61742716
NM_182961.4(SYNE1):c.21822T>G (p.Ile7274Met) rs770171807
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr) rs145494541
NM_182961.4(SYNE1):c.22003G>A (p.Ala7335Thr)
NM_182961.4(SYNE1):c.22072G>T (p.Ala7358Ser) rs145518327
NM_182961.4(SYNE1):c.2224G>A (p.Val742Ile)
NM_182961.4(SYNE1):c.22346+6G>T rs368678916
NM_182961.4(SYNE1):c.22492G>A (p.Glu7498Lys)
NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys)
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val) rs146320179
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp) rs142117628
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His) rs750911961
NM_182961.4(SYNE1):c.23258G>A (p.Arg7753His)
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile) rs150550013
NM_182961.4(SYNE1):c.23659G>A (p.Val7887Met) rs143842011
NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe) rs139600654
NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys) rs375917264
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr) rs139643725
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.24724G>A (p.Asp8242Asn)
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813
NM_182961.4(SYNE1):c.24977-1718G>A rs370143116
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly) rs142690727
NM_182961.4(SYNE1):c.25085C>T (p.Thr8362Met) rs147814237
NM_182961.4(SYNE1):c.25159G>T (p.Val8387Leu) rs119103247
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg) rs375476506
NM_182961.4(SYNE1):c.25241C>T (p.Thr8414Met) rs759512753
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn) rs139679692
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248
NM_182961.4(SYNE1):c.25403G>A (p.Arg8468His) rs143049227
NM_182961.4(SYNE1):c.25484G>A (p.Arg8495His) rs558046278
NM_182961.4(SYNE1):c.25735A>G (p.Ile8579Val) rs200178554
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542
NM_182961.4(SYNE1):c.25C>T (p.Arg9Trp) rs200346529
NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn) rs767663894
NM_182961.4(SYNE1):c.26177C>T (p.Ser8726Phe)
NM_182961.4(SYNE1):c.26180C>T (p.Ser8727Phe)
NM_182961.4(SYNE1):c.26195G>A (p.Gly8732Glu) rs1554349162
NM_182961.4(SYNE1):c.26204G>T (p.Arg8735Leu)
NM_182961.4(SYNE1):c.26207C>A (p.Ser8736Tyr) rs1258213221
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln) rs757466963
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys) rs377446250
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met) rs567376316
NM_182961.4(SYNE1):c.2975A>C (p.Gln992Pro) rs1564137172
NM_182961.4(SYNE1):c.3028-4G>A rs1380560355
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val) rs143093185
NM_182961.4(SYNE1):c.310-468G>A rs143635963
NM_182961.4(SYNE1):c.3109G>A (p.Glu1037Lys) rs545152377
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp) rs147841761
NM_182961.4(SYNE1):c.3388A>T (p.Thr1130Ser) rs1194769025
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu) rs760256766
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489
NM_182961.4(SYNE1):c.3541C>T (p.Leu1181Phe) rs1203451912
NM_182961.4(SYNE1):c.3647C>T (p.Ala1216Val)
NM_182961.4(SYNE1):c.3669+4C>G rs376511242
NM_182961.4(SYNE1):c.4471C>G (p.Gln1491Glu) rs144276162
NM_182961.4(SYNE1):c.4477A>G (p.Ile1493Val) rs139544072
NM_182961.4(SYNE1):c.454G>A (p.Ala152Thr)
NM_182961.4(SYNE1):c.4562G>A (p.Arg1521Gln)
NM_182961.4(SYNE1):c.4659G>C (p.Gln1553His)
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser) rs199769508
NM_182961.4(SYNE1):c.4735A>G (p.Ile1579Val)
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999
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.5230G>A (p.Glu1744Lys)
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg) rs146244669
NM_182961.4(SYNE1):c.5390T>C (p.Met1797Thr) rs1481121106
NM_182961.4(SYNE1):c.5491G>T (p.Gly1831Cys)
NM_182961.4(SYNE1):c.578G>A (p.Gly193Asp)
NM_182961.4(SYNE1):c.582-6A>G rs199728167
NM_182961.4(SYNE1):c.592A>G (p.Ile198Val)
NM_182961.4(SYNE1):c.6032G>C (p.Arg2011Pro) rs1199419170
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro)
NM_182961.4(SYNE1):c.6549G>C (p.Glu2183Asp) rs144797998
NM_182961.4(SYNE1):c.6649G>A (p.Val2217Ile) rs377531174
NM_182961.4(SYNE1):c.6812C>T (p.Pro2271Leu) rs555536675
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala) rs199558070
NM_182961.4(SYNE1):c.7309G>A (p.Gly2437Ser)
NM_182961.4(SYNE1):c.7475C>A (p.Ala2492Asp) rs773876679
NM_182961.4(SYNE1):c.7951G>A (p.Glu2651Lys)
NM_182961.4(SYNE1):c.7989G>T (p.Arg2663=) rs1268841274
NM_182961.4(SYNE1):c.8014C>G (p.Leu2672Val) rs1563634104
NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala) rs375079396
NM_182961.4(SYNE1):c.8606T>C (p.Met2869Thr) rs371025400
NM_182961.4(SYNE1):c.8716G>A (p.Glu2906Lys)
NM_182961.4(SYNE1):c.8780G>A (p.Arg2927His) rs148998248
NM_182961.4(SYNE1):c.9009+5G>T rs1252397404
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly) rs144643941
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter) rs199708211
NM_182961.4(SYNE1):c.9262G>A (p.Ala3088Thr) rs398123005
NM_182961.4(SYNE1):c.9374T>C (p.Leu3125Pro) rs1563477104
NM_182961.4(SYNE1):c.9572A>T (p.Lys3191Ile) rs1563437567
NM_182961.4(SYNE1):c.9584T>C (p.Met3195Thr) rs1398398021
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071
NM_182961.4(SYNE1):c.9605G>A (p.Arg3202His) rs146769373

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