ClinVar Miner

List of variants in gene SYNE1 reported as uncertain significance for Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 258
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HGVS dbSNP
NM_033071.3(SYNE1):c.10081G>C (p.Glu3361Gln) rs773410652
NM_033071.3(SYNE1):c.10091C>T (p.Pro3364Leu) rs748499952
NM_033071.3(SYNE1):c.10133C>T (p.Ala3378Val) rs748579024
NM_033071.3(SYNE1):c.10496G>A (p.Arg3499His) rs148522587
NM_033071.3(SYNE1):c.10618C>A (p.Arg3540Ser) rs776816480
NM_033071.3(SYNE1):c.10807G>A (p.Val3603Met) rs143034104
NM_033071.3(SYNE1):c.11173A>G (p.Thr3725Ala) rs144797744
NM_033071.3(SYNE1):c.11368C>T (p.Arg3790Trp)
NM_033071.3(SYNE1):c.11384C>T (p.Thr3795Met) rs375577011
NM_033071.3(SYNE1):c.11968C>T (p.Pro3990Ser) rs780777858
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.12582A>G (p.Arg4194=) rs1554474578
NM_033071.3(SYNE1):c.12616G>A (p.Ala4206Thr)
NM_033071.3(SYNE1):c.12688A>G (p.Lys4230Glu)
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.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.13505A>C (p.Lys4502Thr)
NM_033071.3(SYNE1):c.1351C>T (p.Arg451Trp) rs75153800
NM_033071.3(SYNE1):c.13538T>A (p.Val4513Asp) rs968829958
NM_033071.3(SYNE1):c.13555A>G (p.Asn4519Asp) rs199761238
NM_033071.3(SYNE1):c.13641_13643delTCT (p.Leu4549del) rs1085307610
NM_033071.3(SYNE1):c.13682C>T (p.Ser4561Leu)
NM_033071.3(SYNE1):c.13696G>A (p.Asp4566Asn) rs142388112
NM_033071.3(SYNE1):c.13805G>A (p.Arg4602Gln) rs144963785
NM_033071.3(SYNE1):c.14050C>T (p.Leu4684Phe) rs41301343
NM_033071.3(SYNE1):c.14210C>T (p.Thr4737Met) rs373040273
NM_033071.3(SYNE1):c.14364G>C (p.Gln4788His) rs369433602
NM_033071.3(SYNE1):c.14482T>C (p.Trp4828Arg)
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.14778G>T (p.Arg4926Ser) rs201306174
NM_033071.3(SYNE1):c.14876A>G (p.Glu4959Gly)
NM_033071.3(SYNE1):c.15124G>A (p.Val5042Ile) rs139170018
NM_033071.3(SYNE1):c.1523T>C (p.Met508Thr) rs202149617
NM_033071.3(SYNE1):c.15355C>G (p.Gln5119Glu) rs138368397
NM_033071.3(SYNE1):c.15367C>T (p.Arg5123Cys)
NM_033071.3(SYNE1):c.15448A>G (p.Lys5150Glu) rs764500952
NM_033071.3(SYNE1):c.15650G>C (p.Gly5217Ala) rs201313856
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.16082G>A (p.Arg5361Gln) rs200812806
NM_033071.3(SYNE1):c.16339C>T (p.Arg5447Trp) rs377410590
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.16406T>C (p.Leu5469Ser)
NM_033071.3(SYNE1):c.16474C>T (p.Arg5492Trp) rs375097544
NM_033071.3(SYNE1):c.1653+6T>C rs758756977
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.16937A>C (p.Glu5646Ala) rs780396166
NM_033071.3(SYNE1):c.169A>G (p.Met57Val) rs1031712545
NM_033071.3(SYNE1):c.17134G>C (p.Glu5712Gln) rs754105532
NM_033071.3(SYNE1):c.17206A>G (p.Met5736Val) rs763218931
NM_033071.3(SYNE1):c.17329-5G>A rs776747142
NM_033071.3(SYNE1):c.17426G>T (p.Arg5809Leu) rs767844376
NM_033071.3(SYNE1):c.17614T>C (p.Ser5872Pro) rs147998933
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.17878G>A (p.Glu5960Lys) rs142229551
NM_033071.3(SYNE1):c.17893G>C (p.Asp5965His) rs147615757
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.18418G>A (p.Gly6140Ser) rs149624155
NM_033071.3(SYNE1):c.18442G>C (p.Ala6148Pro)
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.18604G>A (p.Glu6202Lys) rs201346604
NM_033071.3(SYNE1):c.18786G>C (p.Leu6262Phe) rs141934037
NM_033071.3(SYNE1):c.1882A>G (p.Thr628Ala) rs146618884
NM_033071.3(SYNE1):c.18904A>G (p.Lys6302Glu) rs1554285472
NM_033071.3(SYNE1):c.19015G>A (p.Glu6339Lys) rs143554730
NM_033071.3(SYNE1):c.19042C>G (p.Gln6348Glu) rs150700669
NM_033071.3(SYNE1):c.19063A>C (p.Ile6355Leu)
NM_033071.3(SYNE1):c.19132G>T (p.Asp6378Tyr) rs1315831856
NM_033071.3(SYNE1):c.19138C>G (p.Arg6380Gly)
NM_033071.3(SYNE1):c.19173G>C (p.Leu6391Phe) rs1453005046
NM_033071.3(SYNE1):c.19225A>C (p.Lys6409Gln)
NM_033071.3(SYNE1):c.19331T>C (p.Phe6444Ser) rs747674900
NM_033071.3(SYNE1):c.1934A>G (p.Gln645Arg) rs1554756030
NM_033071.3(SYNE1):c.19427G>A (p.Gly6476Asp) rs766241487
NM_033071.3(SYNE1):c.19516C>T (p.Arg6506Trp) rs368534747
NM_033071.3(SYNE1):c.19517G>A (p.Arg6506Gln) rs150387338
NM_033071.3(SYNE1):c.19680+6T>C rs377413112
NM_033071.3(SYNE1):c.19898A>T (p.Gln6633Leu)
NM_033071.3(SYNE1):c.19930G>A (p.Val6644Met) rs145185413
NM_033071.3(SYNE1):c.19944G>C (p.Glu6648Asp) rs769305344
NM_033071.3(SYNE1):c.19970G>A (p.Arg6657His) rs139384691
NM_033071.3(SYNE1):c.20228C>T (p.Ala6743Val)
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.20479G>A (p.Val6827Ile)
NM_033071.3(SYNE1):c.2051G>A (p.Arg684His) rs767684007
NM_033071.3(SYNE1):c.20816T>A (p.Val6939Glu) rs141275966
NM_033071.3(SYNE1):c.20826+6C>G rs368575705
NM_033071.3(SYNE1):c.20936G>A (p.Arg6979Gln) rs143639400
NM_033071.3(SYNE1):c.21058A>C (p.Asn7020His) rs777618601
NM_033071.3(SYNE1):c.21136A>T (p.Met7046Leu)
NM_033071.3(SYNE1):c.21256C>T (p.Arg7086Cys)
NM_033071.3(SYNE1):c.21289G>A (p.Val7097Ile) rs760451139
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.21790G>A (p.Ala7264Thr)
NM_033071.3(SYNE1):c.21859G>T (p.Ala7287Ser) rs145518327
NM_033071.3(SYNE1):c.21958G>A (p.Glu7320Lys) rs751761981
NM_033071.3(SYNE1):c.22279G>A (p.Glu7427Lys)
NM_033071.3(SYNE1):c.22280A>C (p.Glu7427Ala) rs774655615
NM_033071.3(SYNE1):c.22306C>T (p.Arg7436Cys)
NM_033071.3(SYNE1):c.22376+4G>T rs563408259
NM_033071.3(SYNE1):c.22660G>C (p.Val7554Leu) rs749743156
NM_033071.3(SYNE1):c.22683_22685delTCT (p.Leu7562del) rs1360697609
NM_033071.3(SYNE1):c.22700G>A (p.Gly7567Asp) rs142117628
NM_033071.3(SYNE1):c.22838A>T (p.Asp7613Val) rs139077054
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.23045G>A (p.Arg7682His)
NM_033071.3(SYNE1):c.23047G>A (p.Val7683Ile) rs150550013
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.23777C>T (p.Thr7926Met) rs757366114
NM_033071.3(SYNE1):c.23978G>A (p.Arg7993His) rs1042685641
NM_033071.3(SYNE1):c.23C>T (p.Ser8Phe) rs139600654
NM_033071.3(SYNE1):c.24125T>G (p.Phe8042Cys) rs769930534
NM_033071.3(SYNE1):c.24136C>T (p.Arg8046Trp) rs144056525
NM_033071.3(SYNE1):c.24141C>G (p.Asp8047Glu) rs149940427
NM_033071.3(SYNE1):c.24275T>C (p.Ile8092Thr) rs139643725
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.24439G>A (p.Asp8147Asn) rs267600861
NM_033071.3(SYNE1):c.244C>T (p.Arg82Trp) rs772761179
NM_033071.3(SYNE1):c.24504C>G (p.His8168Gln) rs201548223
NM_033071.3(SYNE1):c.24510C>G (p.His8170Gln) rs141586001
NM_033071.3(SYNE1):c.24511G>A (p.Asp8171Asn)
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.24614C>G (p.Ala8205Gly) rs142985368
NM_033071.3(SYNE1):c.24668A>G (p.Asp8223Gly) rs138407813
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.24841A>G (p.Ser8281Gly) rs142690727
NM_033071.3(SYNE1):c.24902T>C (p.Ile8301Thr) rs927451522
NM_033071.3(SYNE1):c.24941C>T (p.Thr8314Met) rs147814237
NM_033071.3(SYNE1):c.24942G>A (p.Thr8314=) rs377302991
NM_033071.3(SYNE1):c.25079A>G (p.His8360Arg) rs375476506
NM_033071.3(SYNE1):c.25097C>T (p.Thr8366Met) rs759512753
NM_033071.3(SYNE1):c.25198G>A (p.Asp8400Asn) rs139679692
NM_033071.3(SYNE1):c.25237G>A (p.Glu8413Lys) rs119103248
NM_033071.3(SYNE1):c.25259G>A (p.Arg8420His) rs143049227
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.25591A>G (p.Ile8531Val) rs200178554
NM_033071.3(SYNE1):c.25607A>C (p.Asp8536Ala) rs41291047
NM_033071.3(SYNE1):c.25642A>G (p.Met8548Val) rs746864807
NM_033071.3(SYNE1):c.25712T>C (p.Leu8571Pro) rs139834542
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.25C>T (p.Arg9Trp) rs200346529
NM_033071.3(SYNE1):c.2705C>T (p.Thr902Met) rs373633207
NM_033071.3(SYNE1):c.2996A>C (p.Gln999Pro)
NM_033071.3(SYNE1):c.3049-4G>A
NM_033071.3(SYNE1):c.3095A>T (p.Asp1032Val) rs143093185
NM_033071.3(SYNE1):c.3130G>A (p.Glu1044Lys) rs545152377
NM_033071.3(SYNE1):c.3152G>A (p.Arg1051Gln) rs199888697
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.3409A>T (p.Thr1137Ser)
NM_033071.3(SYNE1):c.3454A>G (p.Thr1152Ala) rs148733093
NM_033071.3(SYNE1):c.3457C>G (p.Gln1153Glu) rs760256766
NM_033071.3(SYNE1):c.3475G>A (p.Gly1159Ser) rs749547744
NM_033071.3(SYNE1):c.3557A>C (p.Glu1186Ala) rs117461489
NM_033071.3(SYNE1):c.3562C>T (p.Leu1188Phe)
NM_033071.3(SYNE1):c.3668C>T (p.Ala1223Val)
NM_033071.3(SYNE1):c.3690+4C>G rs376511242
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.4295A>T (p.Glu1432Val) rs767783076
NM_033071.3(SYNE1):c.4432G>A (p.Ala1478Thr) rs1350630909
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.4583G>A (p.Arg1528Gln)
NM_033071.3(SYNE1):c.4680G>C (p.Gln1560His)
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.4756A>G (p.Ile1586Val)
NM_033071.3(SYNE1):c.475G>A (p.Ala159Thr)
NM_033071.3(SYNE1):c.4843G>A (p.Ala1615Thr) rs138617999
NM_033071.3(SYNE1):c.5053G>A (p.Ala1685Thr) rs1554680800
NM_033071.3(SYNE1):c.5150C>A (p.Ala1717Asp) rs150702500
NM_033071.3(SYNE1):c.5251G>A (p.Glu1751Lys)
NM_033071.3(SYNE1):c.529C>T (p.Arg177Trp) rs777175001
NM_033071.3(SYNE1):c.5303A>G (p.Gln1768Arg) rs146244669
NM_033071.3(SYNE1):c.5381A>G (p.Glu1794Gly) rs201366911
NM_033071.3(SYNE1):c.5411T>C (p.Met1804Thr) rs1481121106
NM_033071.3(SYNE1):c.5512G>T (p.Gly1838Cys)
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.599G>A (p.Gly200Asp)
NM_033071.3(SYNE1):c.603-6A>G rs199728167
NM_033071.3(SYNE1):c.613A>G (p.Ile205Val)
NM_033071.3(SYNE1):c.6172G>C (p.Ala2058Pro)
NM_033071.3(SYNE1):c.6206G>T (p.Arg2069Leu) rs542032376
NM_033071.3(SYNE1):c.6353C>T (p.Thr2118Ile) rs760835706
NM_033071.3(SYNE1):c.6570G>C (p.Glu2190Asp) rs144797998
NM_033071.3(SYNE1):c.6670G>A (p.Val2224Ile) rs377531174
NM_033071.3(SYNE1):c.6929C>T (p.Thr2310Met) rs190867604
NM_033071.3(SYNE1):c.7003A>G (p.Met2335Val) rs1250755900
NM_033071.3(SYNE1):c.7097C>A (p.Thr2366Asn) rs142747430
NM_033071.3(SYNE1):c.7330G>A (p.Gly2444Ser)
NM_033071.3(SYNE1):c.7496C>A (p.Ala2499Asp) rs773876679
NM_033071.3(SYNE1):c.7954G>A (p.Asp2652Asn) rs775185806
NM_033071.3(SYNE1):c.7972G>A (p.Glu2658Lys)
NM_033071.3(SYNE1):c.8010G>T (p.Arg2670=)
NM_033071.3(SYNE1):c.8035C>G (p.Leu2679Val)
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.8567T>C (p.Val2856Ala) rs375079396
NM_033071.3(SYNE1):c.8627T>C (p.Met2876Thr) rs371025400
NM_033071.3(SYNE1):c.8726C>T (p.Ser2909Leu) rs576979843
NM_033071.3(SYNE1):c.8737G>A (p.Glu2913Lys)
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.9030+5G>T
NM_033071.3(SYNE1):c.9061C>T (p.Pro3021Ser) rs200939886
NM_033071.3(SYNE1):c.9073G>T (p.Asp3025Tyr)
NM_033071.3(SYNE1):c.9112A>G (p.Arg3038Gly) rs144643941
NM_033071.3(SYNE1):c.9283G>A (p.Ala3095Thr) rs398123005
NM_033071.3(SYNE1):c.9395T>C (p.Leu3132Pro)
NM_033071.3(SYNE1):c.9415A>T (p.Ser3139Cys) rs138481762
NM_033071.3(SYNE1):c.9593A>T (p.Lys3198Ile)
NM_033071.3(SYNE1):c.9605T>C (p.Met3202Thr)
NM_033071.3(SYNE1):c.9625C>T (p.Arg3209Cys) rs749550071
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_182961.3(SYNE1):c.12115G>A (p.Val4039Ile) rs199774691

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