ClinVar Miner

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

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ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801 0.00172
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123 0.00106
NM_182961.4(SYNE1):c.*433A>G rs886061189 0.00034
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln) rs61742716 0.00030
NM_182961.4(SYNE1):c.12225+4G>A rs770448083 0.00024
NM_182961.4(SYNE1):c.26154-2590C>G rs767099068 0.00022
NM_182961.4(SYNE1):c.*101C>T rs571719631 0.00021
NM_182961.4(SYNE1):c.*186G>A rs766338162 0.00021
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604 0.00017
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn) rs139679692 0.00016
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His) rs147667464 0.00015
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys) rs774710219 0.00014
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val) rs146320179 0.00014
NM_182961.4(SYNE1):c.-347C>A rs570030870 0.00012
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg) rs145882956 0.00011
NM_182961.4(SYNE1):c.-305G>T rs949603195 0.00009
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=) rs759825628 0.00009
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp) rs377410590 0.00008
NM_182961.4(SYNE1):c.25922G>A (p.Arg8641Gln) rs774776856 0.00008
NM_182961.4(SYNE1):c.3433A>G (p.Thr1145Ala) rs148733093 0.00006
NM_182961.4(SYNE1):c.12142T>G (p.Cys4048Gly) rs377526133 0.00005
NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys) rs141278167 0.00005
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=) rs569973824 0.00004
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013 0.00004
NM_182961.4(SYNE1):c.1453A>G (p.Met485Val) rs767978898 0.00004
NM_182961.4(SYNE1):c.18628C>T (p.Pro6210Ser) rs868377407 0.00004
NM_182961.4(SYNE1):c.19228G>A (p.Glu6410Lys) rs143554730 0.00004
NM_182961.4(SYNE1):c.19555G>A (p.Val6519Ile) rs563568189 0.00004
NM_182961.4(SYNE1):c.22547T>C (p.Ile7516Thr) rs190781696 0.00004
NM_182961.4(SYNE1):c.23335T>C (p.Leu7779=) rs200800604 0.00004
NM_182961.4(SYNE1):c.25194G>A (p.Glu8398=) rs369691475 0.00004
NM_182961.4(SYNE1):c.5417A>G (p.His1806Arg) rs779891217 0.00004
NM_182961.4(SYNE1):c.888+4G>C rs749258298 0.00004
NM_182961.4(SYNE1):c.-361G>T rs886061221 0.00003
NM_182961.4(SYNE1):c.10284G>T (p.Met3428Ile) rs755180412 0.00003
NM_182961.4(SYNE1):c.10766C>T (p.Thr3589Ile) rs201487756 0.00003
NM_182961.4(SYNE1):c.11362A>C (p.Lys3788Gln) rs774322624 0.00003
NM_182961.4(SYNE1):c.11526T>C (p.Pro3842=) rs767967824 0.00003
NM_182961.4(SYNE1):c.19481A>C (p.Lys6494Thr) rs763051329 0.00003
NM_182961.4(SYNE1):c.20937T>C (p.Ser6979=) rs762665527 0.00003
NM_182961.4(SYNE1):c.2386C>G (p.Leu796Val) rs1055043180 0.00003
NM_182961.4(SYNE1):c.24250G>A (p.Glu8084Lys) rs373016793 0.00003
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp) rs772761179 0.00003
NM_182961.4(SYNE1):c.25230C>T (p.Thr8410=) rs758276004 0.00003
NM_182961.4(SYNE1):c.3587C>T (p.Ser1196Phe) rs886061212 0.00003
NM_182961.4(SYNE1):c.7277A>C (p.Lys2426Thr) rs764200857 0.00003
NM_182961.4(SYNE1):c.11002G>A (p.Glu3668Lys) rs767544504 0.00002
NM_182961.4(SYNE1):c.1305C>T (p.His435=) rs539575253 0.00002
NM_182961.4(SYNE1):c.15408T>C (p.His5136=) rs776024178 0.00002
NM_182961.4(SYNE1):c.15882G>T (p.Met5294Ile) rs770022371 0.00002
NM_182961.4(SYNE1):c.20741A>C (p.His6914Pro) rs773155844 0.00002
NM_182961.4(SYNE1):c.22497G>C (p.Leu7499Phe) rs886061196 0.00002
NM_182961.4(SYNE1):c.24354C>G (p.Asp8118Glu) rs149940427 0.00002
NM_182961.4(SYNE1):c.4792C>T (p.Leu1598Phe) rs151002514 0.00002
NM_182961.4(SYNE1):c.6117A>C (p.Lys2039Asn) rs1449605743 0.00002
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter) rs199708211 0.00002
NM_182961.4(SYNE1):c.*138A>G rs2051574407 0.00001
NM_182961.4(SYNE1):c.*166G>A rs958754447 0.00001
NM_182961.4(SYNE1):c.*181C>T rs150886628 0.00001
NM_182961.4(SYNE1):c.*368T>C rs927168592 0.00001
NM_182961.4(SYNE1):c.10471G>A (p.Val3491Ile) rs886043016 0.00001
NM_182961.4(SYNE1):c.10727G>A (p.Arg3576Gln) rs1060499769 0.00001
NM_182961.4(SYNE1):c.1099C>T (p.His367Tyr) rs2098931321 0.00001
NM_182961.4(SYNE1):c.1176G>A (p.Val392=) rs776130961 0.00001
NM_182961.4(SYNE1):c.12272A>G (p.Asp4091Gly) rs767294741 0.00001
NM_182961.4(SYNE1):c.15254T>C (p.Met5085Thr) rs750676780 0.00001
NM_182961.4(SYNE1):c.15330G>A (p.Arg5110=) rs780437149 0.00001
NM_182961.4(SYNE1):c.15917+9G>A rs779265988 0.00001
NM_182961.4(SYNE1):c.15974G>A (p.Arg5325Gln) rs1233067296 0.00001
NM_182961.4(SYNE1):c.19014G>A (p.Leu6338=) rs762720357 0.00001
NM_182961.4(SYNE1):c.20821A>G (p.Ile6941Val) rs191912037 0.00001
NM_182961.4(SYNE1):c.21758C>T (p.Ser7253Leu) rs749718460 0.00001
NM_182961.4(SYNE1):c.21759G>A (p.Ser7253=) rs775672135 0.00001
NM_182961.4(SYNE1):c.21798G>C (p.Leu7266Phe) rs760237153 0.00001
NM_182961.4(SYNE1):c.22368A>G (p.Leu7456=) rs745722568 0.00001
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His) rs750911961 0.00001
NM_182961.4(SYNE1):c.23288A>G (p.Glu7763Gly) rs765427429 0.00001
NM_182961.4(SYNE1):c.23936G>A (p.Arg7979Gln) rs769773495 0.00001
NM_182961.4(SYNE1):c.24350G>A (p.Arg8117Gln) rs777435137 0.00001
NM_182961.4(SYNE1):c.25037G>A (p.Arg8346His) rs778080338 0.00001
NM_182961.4(SYNE1):c.25508A>G (p.Asn8503Ser) rs756645782 0.00001
NM_182961.4(SYNE1):c.3382G>C (p.Asp1128His) rs886061213 0.00001
NM_182961.4(SYNE1):c.4844G>C (p.Ser1615Thr) rs775729666 0.00001
NM_182961.4(SYNE1):c.508C>T (p.Arg170Trp) rs777175001 0.00001
NM_182961.4(SYNE1):c.7030-4G>C rs112853992 0.00001
NM_182961.4(SYNE1):c.7714G>A (p.Glu2572Lys) rs886061209 0.00001
NM_182961.4(SYNE1):c.8004+5A>G rs746589347 0.00001
NM_182961.4(SYNE1):c.8571T>C (p.His2857=) rs886061207 0.00001
NM_182961.4(SYNE1):c.9577G>A (p.Glu3193Lys) rs761121679 0.00001
NM_182961.4(SYNE1):c.*295T>C rs886061190
NM_182961.4(SYNE1):c.*449T>A rs886061188
NM_182961.4(SYNE1):c.*449T>C rs886061188
NM_182961.4(SYNE1):c.*515T>C rs886061187
NM_182961.4(SYNE1):c.-352C>T rs886061220
NM_182961.4(SYNE1):c.-40A>T rs2099690467
NM_182961.4(SYNE1):c.10112C>T (p.Ala3371Val) rs748579024
NM_182961.4(SYNE1):c.10420A>G (p.Arg3474Gly) rs2096893025
NM_182961.4(SYNE1):c.10596G>A (p.Leu3532=) rs765669433
NM_182961.4(SYNE1):c.1094T>C (p.Ile365Thr) rs2098931353
NM_182961.4(SYNE1):c.10981A>C (p.Arg3661=) rs767172575
NM_182961.4(SYNE1):c.10981A>G (p.Arg3661Gly) rs767172575
NM_182961.4(SYNE1):c.1119C>T (p.His373=) rs886061217
NM_182961.4(SYNE1):c.11342G>A (p.Gly3781Asp)
NM_182961.4(SYNE1):c.11625A>G (p.Ser3875=) rs1057518265
NM_182961.4(SYNE1):c.12056C>T (p.Ala4019Val) rs756840607
NM_182961.4(SYNE1):c.12066C>G (p.Ser4022Arg)
NM_182961.4(SYNE1):c.12090T>A (p.Ser4030Arg) rs2096590726
NM_182961.4(SYNE1):c.12136C>A (p.Gln4046Lys) rs1159138676
NM_182961.4(SYNE1):c.12354T>G (p.Ile4118Met) rs144274149
NM_182961.4(SYNE1):c.12476G>T (p.Arg4159Met)
NM_182961.4(SYNE1):c.12666C>G (p.Cys4222Trp) rs866991892
NM_182961.4(SYNE1):c.1291G>T (p.Val431Phe) rs761198236
NM_182961.4(SYNE1):c.13075T>C (p.Trp4359Arg)
NM_182961.4(SYNE1):c.13089A>T (p.Gln4363His)
NM_182961.4(SYNE1):c.13223C>G (p.Ala4408Gly) rs886061204
NM_182961.4(SYNE1):c.13535G>C (p.Gly4512Ala) rs933108692
NM_182961.4(SYNE1):c.14416G>A (p.Glu4806Lys) rs746657854
NM_182961.4(SYNE1):c.15301G>A (p.Ala5101Thr) rs759275432
NM_182961.4(SYNE1):c.15615C>T (p.Ile5205=) rs762262465
NM_182961.4(SYNE1):c.15952G>A (p.Val5318Met) rs886061203
NM_182961.4(SYNE1):c.1653G>C (p.Lys551Asn) rs886061216
NM_182961.4(SYNE1):c.16923G>A (p.Leu5641=) rs869025528
NM_182961.4(SYNE1):c.17246A>C (p.His5749Pro) rs2095450657
NM_182961.4(SYNE1):c.1747G>T (p.Val583Leu)
NM_182961.4(SYNE1):c.17521G>A (p.Ala5841Thr) rs2095189465
NM_182961.4(SYNE1):c.17778A>G (p.Glu5926=) rs997194150
NM_182961.4(SYNE1):c.18551A>G (p.His6184Arg) rs2093773675
NM_182961.4(SYNE1):c.18569T>A (p.Met6190Lys) rs867471417
NM_182961.4(SYNE1):c.18664A>G (p.Thr6222Ala) rs886061202
NM_182961.4(SYNE1):c.18725C>A (p.Ala6242Asp) rs2092880052
NM_182961.4(SYNE1):c.18727G>C (p.Glu6243Gln) rs200360218
NM_182961.4(SYNE1):c.18776T>C (p.Leu6259Pro) rs886061201
NM_182961.4(SYNE1):c.18806G>T (p.Gly6269Val) rs1275027623
NM_182961.4(SYNE1):c.18875A>G (p.Glu6292Gly)
NM_182961.4(SYNE1):c.1932+9G>T rs746181375
NM_182961.4(SYNE1):c.20136C>G (p.Ile6712Met) rs761906590
NM_182961.4(SYNE1):c.20733T>C (p.Pro6911=) rs2082942186
NM_182961.4(SYNE1):c.21153T>C (p.Ile7051=) rs886061200
NM_182961.4(SYNE1):c.21195+14G>C rs2082553069
NM_182961.4(SYNE1):c.21294C>G (p.Ser7098Arg) rs2081442642
NM_182961.4(SYNE1):c.21351+14C>T rs2081426061
NM_182961.4(SYNE1):c.21501A>G (p.Gln7167=) rs1427603497
NM_182961.4(SYNE1):c.21514A>G (p.Asn7172Asp) rs886061199
NM_182961.4(SYNE1):c.21522G>C (p.Gln7174His) rs886061198
NM_182961.4(SYNE1):c.21783A>C (p.Arg7261=) rs886061197
NM_182961.4(SYNE1):c.2201C>G (p.Pro734Arg) rs886061215
NM_182961.4(SYNE1):c.22044+9C>T rs774609945
NM_182961.4(SYNE1):c.22546A>G (p.Ile7516Val) rs963496863
NM_182961.4(SYNE1):c.22873G>A (p.Val7625Met) rs749743156
NM_182961.4(SYNE1):c.2297T>C (p.Ile766Thr) rs886061214
NM_182961.4(SYNE1):c.2308G>A (p.Ala770Thr) rs767407271
NM_182961.4(SYNE1):c.23141G>A (p.Cys7714Tyr) rs886061195
NM_182961.4(SYNE1):c.23666A>G (p.Gln7889Arg) rs2063159798
NM_182961.4(SYNE1):c.23696C>T (p.Thr7899Ile) rs757122298
NM_182961.4(SYNE1):c.23738T>C (p.Val7913Ala) rs746086003
NM_182961.4(SYNE1):c.23832A>G (p.Ala7944=) rs886061194
NM_182961.4(SYNE1):c.24097A>G (p.Thr8033Ala) rs2061108490
NM_182961.4(SYNE1):c.24114A>G (p.Glu8038=) rs2061105872
NM_182961.4(SYNE1):c.24252A>G (p.Glu8084=) rs886061193
NM_182961.4(SYNE1):c.24344C>G (p.Thr8115Ser) rs886061192
NM_182961.4(SYNE1):c.24379A>T (p.Met8127Leu) rs2060437692
NM_182961.4(SYNE1):c.24806G>T (p.Arg8269Leu) rs148367376
NM_182961.4(SYNE1):c.25134C>A (p.Gly8378=) rs576598951
NM_182961.4(SYNE1):c.25135G>C (p.Glu8379Gln)
NM_182961.4(SYNE1):c.25157C>A (p.Ser8386Tyr) rs1466825112
NM_182961.4(SYNE1):c.25159G>T (p.Val8387Leu) rs119103247
NM_182961.4(SYNE1):c.25443G>C (p.Gln8481His) rs886061191
NM_182961.4(SYNE1):c.3055T>C (p.Leu1019=) rs2098645628
NM_182961.4(SYNE1):c.3723C>G (p.Val1241=) rs1041302788
NM_182961.4(SYNE1):c.4000C>G (p.Arg1334Gly)
NM_182961.4(SYNE1):c.403-10T>G rs886061219
NM_182961.4(SYNE1):c.4189G>C (p.Glu1397Gln) rs149918889
NM_182961.4(SYNE1):c.4461+6C>T rs776194459
NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=) rs776593228
NM_182961.4(SYNE1):c.4625G>A (p.Cys1542Tyr) rs1487588055
NM_182961.4(SYNE1):c.4650T>G (p.His1550Gln) rs1295935097
NM_182961.4(SYNE1):c.487A>T (p.Thr163Ser) rs886061218
NM_182961.4(SYNE1):c.553T>C (p.Leu185=) rs2099078168
NM_182961.4(SYNE1):c.5693A>C (p.Asn1898Thr) rs917922270
NM_182961.4(SYNE1):c.5728A>G (p.Asn1910Asp) rs1459660658
NM_182961.4(SYNE1):c.5820G>A (p.Gly1940=) rs773819434
NM_182961.4(SYNE1):c.5980A>G (p.Ile1994Val) rs2098156852
NM_182961.4(SYNE1):c.6128A>T (p.Lys2043Met) rs1015453687
NM_182961.4(SYNE1):c.6412A>G (p.Lys2138Glu) rs2097962380
NM_182961.4(SYNE1):c.6541-12T>A rs2097913765
NM_182961.4(SYNE1):c.6560A>G (p.Glu2187Gly) rs886061211
NM_182961.4(SYNE1):c.664C>T (p.Pro222Ser) rs2099051828
NM_182961.4(SYNE1):c.6739A>G (p.Lys2247Glu) rs1374881204
NM_182961.4(SYNE1):c.68-14C>A rs554675581
NM_182961.4(SYNE1):c.681G>T (p.Leu227Phe) rs867285350
NM_182961.4(SYNE1):c.68A>T (p.Asp23Val)
NM_182961.4(SYNE1):c.6944A>G (p.Asp2315Gly) rs1395736433
NM_182961.4(SYNE1):c.6983T>C (p.Met2328Thr) rs1317403604
NM_182961.4(SYNE1):c.7030-14C>T rs1257361080
NM_182961.4(SYNE1):c.8065G>A (p.Glu2689Lys) rs766019755
NM_182961.4(SYNE1):c.8124G>C (p.Glu2708Asp) rs886061208
NM_182961.4(SYNE1):c.8233T>A (p.Leu2745Met)
NM_182961.4(SYNE1):c.8468A>T (p.Asp2823Val)
NM_182961.4(SYNE1):c.8882A>G (p.Gln2961Arg) rs1366579684
NM_182961.4(SYNE1):c.9074A>T (p.Glu3025Val) rs1591451162
NM_182961.4(SYNE1):c.9220A>G (p.Arg3074Gly) rs2097283597
NM_182961.4(SYNE1):c.9679G>C (p.Glu3227Gln) rs1024177161
NM_182961.4(SYNE1):c.9746G>C (p.Ser3249Thr) rs886061206
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=) rs184006845

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