ClinVar Miner

List of variants reported as uncertain significance for Emery-Dreifuss muscular dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 543
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HGVS dbSNP gnomAD frequency
NM_015374.3(SUN2):c.424+6C>T rs199843484 0.00088
NM_001130965.3(SUN1):c.1732G>T (p.Val578Leu) rs201804636 0.00048
NM_001130965.3(SUN1):c.728C>T (p.Ser243Leu) rs372849423 0.00048
NM_001130965.3(SUN1):c.179C>T (p.Thr60Met) rs112200342 0.00047
NM_001130965.3(SUN1):c.1861G>A (p.Gly621Ser) rs145337558 0.00046
NM_015374.3(SUN2):c.166G>C (p.Ala56Pro) rs137966643 0.00041
NM_015374.3(SUN2):c.2057C>T (p.Thr686Met) rs150292176 0.00041
NM_001130965.3(SUN1):c.733C>G (p.Leu245Val) rs377094306 0.00039
NM_001130965.3(SUN1):c.335C>T (p.Thr112Met) rs183872262 0.00031
NM_170707.4(LMNA):c.1698+83G>A rs555844506 0.00023
NM_015374.3(SUN2):c.431C>T (p.Ser144Leu) rs143710758 0.00021
NM_001130965.3(SUN1):c.13C>T (p.Arg5Trp) rs149483651 0.00020
NM_001130965.3(SUN1):c.362C>G (p.Thr121Ser) rs541487561 0.00019
NM_001130965.3(SUN1):c.496A>G (p.Ile166Val) rs201949393 0.00019
NM_015374.3(SUN2):c.1139C>A (p.Ala380Asp) rs143302352 0.00019
NM_015374.3(SUN2):c.1508C>T (p.Ser503Leu) rs145490494 0.00019
NM_001130965.3(SUN1):c.1216G>A (p.Gly406Arg) rs201437034 0.00017
NM_001130965.3(SUN1):c.535G>A (p.Ala179Thr) rs200430189 0.00017
NM_001130965.3(SUN1):c.695C>T (p.Ala232Val) rs181988140 0.00017
NM_015374.3(SUN2):c.26C>T (p.Thr9Met) rs149995796 0.00017
NM_015374.3(SUN2):c.1258G>A (p.Gly420Ser) rs376340507 0.00016
NM_001130965.3(SUN1):c.1531G>A (p.Val511Met) rs369117433 0.00015
NM_001130965.3(SUN1):c.599C>T (p.Ala200Val) rs368907584 0.00015
NM_015374.3(SUN2):c.2040+4C>T rs372381106 0.00015
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_001130965.3(SUN1):c.1754C>T (p.Ala585Val) rs377135952 0.00014
NM_015374.3(SUN2):c.172C>A (p.Gln58Lys) rs375796599 0.00014
NM_001130965.3(SUN1):c.289A>T (p.Thr97Ser) rs536026654 0.00013
NM_015374.3(SUN2):c.475G>A (p.Val159Ile) rs201453554 0.00013
NM_001130965.3(SUN1):c.233G>A (p.Ser78Asn) rs780522800 0.00012
NM_015374.3(SUN2):c.1314A>T (p.Glu438Asp) rs200311518 0.00012
NM_015374.3(SUN2):c.521G>T (p.Gly174Val) rs148232799 0.00012
NM_000117.3(EMD):c.598T>C (p.Trp200Arg) rs374981936 0.00011
NM_001130965.3(SUN1):c.1513G>A (p.Val505Ile) rs371879209 0.00011
NM_001130965.3(SUN1):c.1921A>G (p.Met641Val) rs374040275 0.00011
NM_001130965.3(SUN1):c.319G>A (p.Val107Met) rs376335038 0.00011
NM_001130965.3(SUN1):c.581G>A (p.Arg194His) rs369326753 0.00011
NM_001130965.3(SUN1):c.992G>A (p.Arg331Gln) rs374902623 0.00011
NM_015374.3(SUN2):c.31T>C (p.Tyr11His) rs771840984 0.00011
NM_015374.3(SUN2):c.932G>A (p.Arg311Gln) rs376072154 0.00011
NM_001130965.3(SUN1):c.260C>T (p.Ala87Val) rs371152290 0.00010
NM_001130965.3(SUN1):c.1747A>G (p.Ser583Gly) rs200128195 0.00009
NM_001130965.3(SUN1):c.241G>A (p.Val81Ile) rs536171212 0.00009
NM_001130965.3(SUN1):c.424G>C (p.Glu142Gln) rs369804846 0.00009
NM_015374.3(SUN2):c.1160G>A (p.Arg387His) rs775651955 0.00009
NM_015374.3(SUN2):c.1237C>T (p.Arg413Trp) rs534367476 0.00009
NM_170707.4(LMNA):c.-138T>C rs886045359 0.00009
NM_001130965.3(SUN1):c.1240G>A (p.Ala414Thr) rs574113932 0.00008
NM_001130965.3(SUN1):c.1787G>A (p.Arg596His) rs372947867 0.00008
NM_001130965.3(SUN1):c.2344G>A (p.Glu782Lys) rs373928196 0.00008
NM_001130965.3(SUN1):c.683G>A (p.Arg228His) rs773328901 0.00008
NM_001130965.3(SUN1):c.962T>G (p.Leu321Trp) rs199719259 0.00008
NM_015374.3(SUN2):c.1190+6G>A rs762466396 0.00008
NM_001130965.3(SUN1):c.1676T>C (p.Leu559Pro) rs370324367 0.00007
NM_001130965.3(SUN1):c.1301G>A (p.Arg434His) rs776823974 0.00006
NM_001130965.3(SUN1):c.1768A>T (p.Ile590Leu) rs374725863 0.00006
NM_001130965.3(SUN1):c.23T>C (p.Met8Thr) rs373925818 0.00006
NM_001130965.3(SUN1):c.281G>A (p.Arg94His) rs112598200 0.00006
NM_001130965.3(SUN1):c.29G>A (p.Ser10Asn) rs200505697 0.00006
NM_001130965.3(SUN1):c.622G>A (p.Val208Met) rs539058781 0.00006
NM_001130965.3(SUN1):c.900C>G (p.Phe300Leu) rs377260468 0.00006
NM_001130965.3(SUN1):c.958G>A (p.Val320Met) rs555876242 0.00006
NM_015374.3(SUN2):c.1205C>T (p.Ser402Phe) rs189897179 0.00006
NM_015374.3(SUN2):c.1684C>T (p.Arg562Ter) rs1370359939 0.00006
NM_015374.3(SUN2):c.1859G>A (p.Arg620His) rs566312173 0.00006
NM_015374.3(SUN2):c.472G>A (p.Ala158Thr) rs199600089 0.00006
NM_015374.3(SUN2):c.616C>A (p.Arg206Ser) rs150381950 0.00006
NM_000117.3(EMD):c.166G>A (p.Ala56Thr) rs1057520579 0.00005
NM_000117.3(EMD):c.215A>T (p.Asp72Val) rs794729021 0.00005
NM_000117.3(EMD):c.355C>A (p.Gln119Lys) rs398123157 0.00005
NM_001130965.3(SUN1):c.1362G>T (p.Lys454Asn) rs202122012 0.00005
NM_001130965.3(SUN1):c.163A>G (p.Ser55Gly) rs777193403 0.00005
NM_001130965.3(SUN1):c.722C>T (p.Ala241Val) rs369311027 0.00005
NM_001130965.3(SUN1):c.763G>A (p.Ala255Thr) rs201864272 0.00005
NM_015374.3(SUN2):c.2002G>A (p.Asp668Asn) rs549404842 0.00005
NM_015374.3(SUN2):c.8G>A (p.Arg3Gln) rs764750687 0.00005
NM_182914.3(SYNE2):c.3971C>T (p.Ala1324Val) rs778039158 0.00005
NM_000117.3(EMD):c.581C>T (p.Ser194Leu) rs782697057 0.00004
NM_000117.3(EMD):c.608G>A (p.Arg203His) rs144842093 0.00004
NM_001130965.3(SUN1):c.1210G>A (p.Ala404Thr) rs757340477 0.00004
NM_001130965.3(SUN1):c.1372C>G (p.Gln458Glu) rs547404802 0.00004
NM_001130965.3(SUN1):c.1390A>G (p.Ile464Val) rs199915497 0.00004
NM_001130965.3(SUN1):c.1923G>A (p.Met641Ile) rs750658890 0.00004
NM_001130965.3(SUN1):c.220G>A (p.Asp74Asn) rs374767640 0.00004
NM_001130965.3(SUN1):c.2227A>G (p.Met743Val) rs368333285 0.00004
NM_001130965.3(SUN1):c.389G>A (p.Arg130Gln) rs781471011 0.00004
NM_015374.3(SUN2):c.1135C>T (p.Arg379Trp) rs372953657 0.00004
NM_015374.3(SUN2):c.1301C>T (p.Ser434Leu) rs990153882 0.00004
NM_015374.3(SUN2):c.1394T>A (p.Leu465His) rs751880061 0.00004
NM_015374.3(SUN2):c.1613G>A (p.Arg538His) rs539760038 0.00004
NM_015374.3(SUN2):c.1732G>A (p.Gly578Ser) rs750800615 0.00004
NM_015374.3(SUN2):c.800C>T (p.Ser267Leu) rs200092509 0.00004
NM_015374.3(SUN2):c.854G>A (p.Arg285Gln) rs760591672 0.00004
NM_015374.3(SUN2):c.910C>T (p.Arg304Trp) rs199636823 0.00004
NM_015374.3(SUN2):c.911G>A (p.Arg304Gln) rs372788944 0.00004
NM_015374.3(SUN2):c.919C>T (p.Arg307Cys) rs758857415 0.00004
NM_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_182914.3(SYNE2):c.16194C>T (p.Ala5398=) rs764264884 0.00004
NM_000117.3(EMD):c.110A>T (p.Lys37Met) rs1085307681 0.00003
NM_000117.3(EMD):c.267C>G (p.Gly89=) rs1201464258 0.00003
NM_000117.3(EMD):c.399+10C>T rs375654959 0.00003
NM_000117.3(EMD):c.449+5G>A rs370840449 0.00003
NM_000117.3(EMD):c.502C>T (p.Arg168Cys) rs886044839 0.00003
NM_000117.3(EMD):c.671C>T (p.Pro224Leu) rs782559230 0.00003
NM_001130965.3(SUN1):c.1025C>T (p.Thr342Met) rs544208812 0.00003
NM_001130965.3(SUN1):c.1420A>C (p.Thr474Pro) rs781596220 0.00003
NM_001130965.3(SUN1):c.1903G>A (p.Glu635Lys) rs376317036 0.00003
NM_001130965.3(SUN1):c.386C>T (p.Thr129Ile) rs199937447 0.00003
NM_015374.3(SUN2):c.1663+4C>T rs367645117 0.00003
NM_015374.3(SUN2):c.1831G>A (p.Ala611Thr) rs754499171 0.00003
NM_015374.3(SUN2):c.231G>C (p.Glu77Asp) rs760297349 0.00003
NM_015374.3(SUN2):c.362G>A (p.Arg121His) rs200211836 0.00003
NM_015374.3(SUN2):c.458C>T (p.Ser153Leu) rs374690791 0.00003
NM_015374.3(SUN2):c.604G>A (p.Val202Ile) rs751598721 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_000117.3(EMD):c.353G>A (p.Arg118His) rs782201984 0.00002
NM_000117.3(EMD):c.572T>C (p.Met191Thr) rs782244432 0.00002
NM_000117.3(EMD):c.610C>T (p.Arg204Cys) rs782299893 0.00002
NM_000117.3(EMD):c.611G>A (p.Arg204His) rs782642152 0.00002
NM_001130965.3(SUN1):c.1229C>T (p.Ser410Leu) rs963866352 0.00002
NM_001130965.3(SUN1):c.1296A>G (p.Glu432=) rs761026434 0.00002
NM_001130965.3(SUN1):c.1958A>G (p.Gln653Arg) rs573186073 0.00002
NM_001130965.3(SUN1):c.555C>G (p.Cys185Trp) rs776947421 0.00002
NM_001130965.3(SUN1):c.5A>C (p.Asp2Ala) rs199693265 0.00002
NM_001130965.3(SUN1):c.720G>A (p.Thr240=) rs186121469 0.00002
NM_015374.3(SUN2):c.1061G>A (p.Arg354His) rs1240205767 0.00002
NM_015374.3(SUN2):c.1136G>A (p.Arg379Gln) rs763323157 0.00002
NM_015374.3(SUN2):c.1238G>A (p.Arg413Gln) rs748611243 0.00002
NM_015374.3(SUN2):c.1349G>A (p.Arg450Gln) rs1371797768 0.00002
NM_015374.3(SUN2):c.1467G>C (p.Glu489Asp) rs148038201 0.00002
NM_015374.3(SUN2):c.1712C>T (p.Thr571Met) rs752150588 0.00002
NM_015374.3(SUN2):c.1785T>A (p.Asp595Glu) rs770892695 0.00002
NM_015374.3(SUN2):c.1879G>C (p.Glu627Gln) rs769627673 0.00002
NM_015374.3(SUN2):c.1997C>T (p.Thr666Ile) rs755259603 0.00002
NM_015374.3(SUN2):c.304C>T (p.Arg102Trp) rs146324000 0.00002
NM_015374.3(SUN2):c.425-3C>A rs368321480 0.00002
NM_015374.3(SUN2):c.542A>G (p.Tyr181Cys) rs776343176 0.00002
NM_015374.3(SUN2):c.583G>C (p.Ala195Pro) rs778335481 0.00002
NM_015374.3(SUN2):c.615-2A>G rs1272584066 0.00002
NM_015374.3(SUN2):c.817G>A (p.Glu273Lys) rs747536298 0.00002
NM_015374.3(SUN2):c.824G>A (p.Arg275His) rs780349096 0.00002
NM_015374.3(SUN2):c.931C>T (p.Arg311Trp) rs764150835 0.00002
NM_170707.4(LMNA):c.-109G>T rs886045360 0.00002
NM_170707.4(LMNA):c.-44T>A rs1185731069 0.00002
NM_170707.4(LMNA):c.1698+57G>A rs557334569 0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363 0.00002
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364 0.00002
NM_182914.3(SYNE2):c.16304T>G (p.Leu5435Arg) rs750900424 0.00002
NM_000117.3(EMD):c.103G>A (p.Glu35Lys) rs782222974 0.00001
NM_000117.3(EMD):c.149C>A (p.Pro50His) rs782021157 0.00001
NM_000117.3(EMD):c.242A>G (p.Asp81Gly) rs1557182377 0.00001
NM_000117.3(EMD):c.400G>A (p.Val134Met) rs201250825 0.00001
NM_000117.3(EMD):c.494C>T (p.Thr165Met) rs397515751 0.00001
NM_000117.3(EMD):c.575C>T (p.Ser192Phe) rs782393829 0.00001
NM_001130965.3(SUN1):c.1018A>G (p.Lys340Glu) rs770728287 0.00001
NM_001130965.3(SUN1):c.1072C>A (p.Pro358Thr) rs1402655652 0.00001
NM_001130965.3(SUN1):c.1075T>G (p.Trp359Gly) rs1824104633 0.00001
NM_001130965.3(SUN1):c.1112C>T (p.Ser371Phe) rs779987779 0.00001
NM_001130965.3(SUN1):c.1195C>T (p.Gln399Ter) rs1287838591 0.00001
NM_001130965.3(SUN1):c.1270T>C (p.Phe424Leu) rs548117640 0.00001
NM_001130965.3(SUN1):c.1400T>C (p.Val467Ala) rs1191867046 0.00001
NM_001130965.3(SUN1):c.1483G>A (p.Val495Met) rs750763397 0.00001
NM_001130965.3(SUN1):c.148C>T (p.Arg50Trp) rs1019819580 0.00001
NM_001130965.3(SUN1):c.1582G>T (p.Gly528Cys) rs549897796 0.00001
NM_001130965.3(SUN1):c.1634G>T (p.Gly545Val) rs751586546 0.00001
NM_001130965.3(SUN1):c.1679G>A (p.Arg560Gln) rs374707736 0.00001
NM_001130965.3(SUN1):c.1696G>A (p.Val566Ile) rs910379771 0.00001
NM_001130965.3(SUN1):c.16C>A (p.Leu6Ile) rs777969470 0.00001
NM_001130965.3(SUN1):c.1749C>T (p.Ser583=) rs780539401 0.00001
NM_001130965.3(SUN1):c.189C>T (p.Cys63=) rs764562577 0.00001
NM_001130965.3(SUN1):c.1955C>T (p.Ser652Leu) rs747017149 0.00001
NM_001130965.3(SUN1):c.2140G>A (p.Ala714Thr) rs759639292 0.00001
NM_001130965.3(SUN1):c.2254G>A (p.Asp752Asn) rs768700424 0.00001
NM_001130965.3(SUN1):c.2281C>T (p.Arg761Trp) rs769875681 0.00001
NM_001130965.3(SUN1):c.2348C>A (p.Pro783His) rs755364227 0.00001
NM_001130965.3(SUN1):c.238G>A (p.Ala80Thr) rs775882448 0.00001
NM_001130965.3(SUN1):c.296A>G (p.Lys99Arg) rs1203009448 0.00001
NM_001130965.3(SUN1):c.346G>A (p.Val116Ile) rs374613091 0.00001
NM_001130965.3(SUN1):c.368G>C (p.Ser123Thr) rs1320668240 0.00001
NM_001130965.3(SUN1):c.536C>T (p.Ala179Val) rs368473097 0.00001
NM_001130965.3(SUN1):c.592C>T (p.Leu198Phe) rs778995671 0.00001
NM_001130965.3(SUN1):c.607G>A (p.Ala203Thr) rs370867004 0.00001
NM_001130965.3(SUN1):c.616G>A (p.Gly206Arg) rs375261890 0.00001
NM_001130965.3(SUN1):c.656A>T (p.Lys219Ile) rs774555940 0.00001
NM_001130965.3(SUN1):c.682C>T (p.Arg228Cys) rs772936422 0.00001
NM_001130965.3(SUN1):c.767C>T (p.Ala256Val) rs775206908 0.00001
NM_001130965.3(SUN1):c.773G>T (p.Gly258Val) rs1423385703 0.00001
NM_001130965.3(SUN1):c.815C>G (p.Thr272Ser) rs565641706 0.00001
NM_001130965.3(SUN1):c.852-7C>G rs372242822 0.00001
NM_001130965.3(SUN1):c.914G>A (p.Gly305Asp) rs781390393 0.00001
NM_001130965.3(SUN1):c.934G>A (p.Gly312Ser) rs768858283 0.00001
NM_001130965.3(SUN1):c.938A>G (p.Asn313Ser) rs774636827 0.00001
NM_001130965.3(SUN1):c.947C>T (p.Ser316Leu) rs1445945190 0.00001
NM_005572.3(LMNA):c.-210T>C rs886045356 0.00001
NM_015374.3(SUN2):c.109G>A (p.Asp37Asn) rs569556638 0.00001
NM_015374.3(SUN2):c.1153G>A (p.Glu385Lys) rs1451970985 0.00001
NM_015374.3(SUN2):c.1270G>A (p.Glu424Lys) rs370825322 0.00001
NM_015374.3(SUN2):c.1373C>T (p.Pro458Leu) rs781480505 0.00001
NM_015374.3(SUN2):c.1553A>G (p.Glu518Gly) rs1417867039 0.00001
NM_015374.3(SUN2):c.1633G>A (p.Gly545Arg) rs758076166 0.00001
NM_015374.3(SUN2):c.1645_1648dup (p.Ala550fs) rs1284194276 0.00001
NM_015374.3(SUN2):c.1746G>T (p.Trp582Cys) rs1370457089 0.00001
NM_015374.3(SUN2):c.1766G>A (p.Arg589Gln) rs1446967356 0.00001
NM_015374.3(SUN2):c.1990A>C (p.Lys664Gln) rs1285036282 0.00001
NM_015374.3(SUN2):c.2039A>G (p.Gln680Arg) rs1486287848 0.00001
NM_015374.3(SUN2):c.2041G>A (p.Ala681Thr) rs559096453 0.00001
NM_015374.3(SUN2):c.247A>G (p.Arg83Gly) rs1474913633 0.00001
NM_015374.3(SUN2):c.269A>G (p.His90Arg) rs2092943342 0.00001
NM_015374.3(SUN2):c.282C>A (p.Asn94Lys) rs750454076 0.00001
NM_015374.3(SUN2):c.361C>T (p.Arg121Cys) rs201794535 0.00001
NM_015374.3(SUN2):c.364A>G (p.Lys122Glu) rs746753110 0.00001
NM_015374.3(SUN2):c.41G>T (p.Gly14Val) rs1461986386 0.00001
NM_015374.3(SUN2):c.421G>A (p.Val141Met) rs1435451030 0.00001
NM_015374.3(SUN2):c.504G>A (p.Met168Ile) rs779478954 0.00001
NM_015374.3(SUN2):c.515C>T (p.Ser172Leu) rs760739182 0.00001
NM_015374.3(SUN2):c.549G>A (p.Trp183Ter) rs746473215 0.00001
NM_015374.3(SUN2):c.728C>T (p.Pro243Leu) rs2092899305 0.00001
NM_015374.3(SUN2):c.759C>G (p.Asp253Glu) rs375173070 0.00001
NM_015374.3(SUN2):c.77C>T (p.Ser26Leu) rs150683665 0.00001
NM_015374.3(SUN2):c.835C>T (p.Arg279Trp) rs1187777425 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.514-11C>T rs886045365 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276 0.00001
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300 0.00001
NM_182914.3(SYNE2):c.20399T>C (p.Leu6800Pro) rs763134759 0.00001
NC_000007.14:g.(?_832495)_(873341_?)dup
NC_000022.10:g.(?_37154355)_(39148633_?)del
NM_000117.3(EMD):c.188A>G (p.Asp63Gly) rs1557182355
NM_000117.3(EMD):c.271A>G (p.Asn91Asp) rs2067879275
NM_000117.3(EMD):c.350T>G (p.Val117Gly) rs781924971
NM_000117.3(EMD):c.490A>C (p.Ile164Leu) rs2067884058
NM_000117.3(EMD):c.503G>A (p.Arg168His) rs898460509
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer) rs794729019
NM_000117.3(EMD):c.576CTC[1] (p.Ser199del) rs2067884874
NM_000117.3(EMD):c.587C>T (p.Ser196Phe) rs781900414
NM_000117.3(EMD):c.620G>C (p.Arg207Pro) rs782352489
NM_000117.3(EMD):c.651G>A (p.Leu217=) rs2067885915
NM_000117.3(EMD):c.712G>A (p.Val238Ile) rs782455914
NM_000117.3(EMD):c.730C>T (p.His244Tyr) rs2067886772
NM_000117.3(EMD):c.77T>C (p.Val26Ala) rs727505029
NM_001130965.3(SUN1):c.1010A>C (p.Asp337Ala)
NM_001130965.3(SUN1):c.1024A>G (p.Thr342Ala) rs1584895416
NM_001130965.3(SUN1):c.1028C>T (p.Thr343Ile) rs1006896977
NM_001130965.3(SUN1):c.1033C>T (p.Arg345Cys)
NM_001130965.3(SUN1):c.1042C>A (p.Gln348Lys)
NM_001130965.3(SUN1):c.1106T>C (p.Val369Ala)
NM_001130965.3(SUN1):c.1123C>G (p.Gln375Glu) rs1824133471
NM_001130965.3(SUN1):c.1123C>T (p.Gln375Ter)
NM_001130965.3(SUN1):c.1127G>A (p.Cys376Tyr)
NM_001130965.3(SUN1):c.1136A>G (p.His379Arg)
NM_001130965.3(SUN1):c.1151G>A (p.Arg384Gln)
NM_001130965.3(SUN1):c.1160C>A (p.Thr387Asn)
NM_001130965.3(SUN1):c.1205G>A (p.Gly402Asp) rs1554263579
NM_001130965.3(SUN1):c.1207G>A (p.Gly403Ser)
NM_001130965.3(SUN1):c.120C>G (p.His40Gln)
NM_001130965.3(SUN1):c.1220_1263+16del rs2128401073
NM_001130965.3(SUN1):c.1228T>G (p.Ser410Ala) rs770565376
NM_001130965.3(SUN1):c.1263+4G>A
NM_001130965.3(SUN1):c.1263+4G>C
NM_001130965.3(SUN1):c.1265C>G (p.Thr422Ser)
NM_001130965.3(SUN1):c.1275G>T (p.Met425Ile) rs1584946287
NM_001130965.3(SUN1):c.1300C>T (p.Arg434Cys)
NM_001130965.3(SUN1):c.1358A>G (p.Gln453Arg)
NM_001130965.3(SUN1):c.1410G>C (p.Gln470His)
NM_001130965.3(SUN1):c.1420A>G (p.Thr474Ala) rs781596220
NM_001130965.3(SUN1):c.1435C>G (p.Gln479Glu)
NM_001130965.3(SUN1):c.1465C>G (p.Leu489Val)
NM_001130965.3(SUN1):c.1478G>A (p.Arg493Gln)
NM_001130965.3(SUN1):c.1492G>A (p.Gly498Ser)
NM_001130965.3(SUN1):c.149G>A (p.Arg50Gln)
NM_001130965.3(SUN1):c.14G>A (p.Arg5Gln)
NM_001130965.3(SUN1):c.1505T>C (p.Val502Ala) rs1829005584
NM_001130965.3(SUN1):c.1517A>G (p.Gln506Arg)
NM_001130965.3(SUN1):c.1519G>C (p.Glu507Gln)
NM_001130965.3(SUN1):c.1530C>A (p.Asp510Glu) rs369720300
NM_001130965.3(SUN1):c.1549G>A (p.Val517Met)
NM_001130965.3(SUN1):c.1561T>G (p.Phe521Val) rs1366892549
NM_001130965.3(SUN1):c.1577A>G (p.Gln526Arg)
NM_001130965.3(SUN1):c.157C>T (p.Arg53Cys)
NM_001130965.3(SUN1):c.1582G>C (p.Gly528Arg) rs549897796
NM_001130965.3(SUN1):c.1598T>A (p.Leu533Gln)
NM_001130965.3(SUN1):c.160C>T (p.Arg54Cys)
NM_001130965.3(SUN1):c.1612T>A (p.Ser538Thr)
NM_001130965.3(SUN1):c.1612T>C (p.Ser538Pro)
NM_001130965.3(SUN1):c.1613C>T (p.Ser538Leu) rs984369757
NM_001130965.3(SUN1):c.161G>A (p.Arg54His) rs772100423
NM_001130965.3(SUN1):c.1655G>A (p.Arg552Gln)
NM_001130965.3(SUN1):c.1659C>G (p.Asp553Glu) rs752578715
NM_001130965.3(SUN1):c.1666C>A (p.Leu556Met) rs777583914
NM_001130965.3(SUN1):c.1684G>A (p.Val562Ile) rs749673318
NM_001130965.3(SUN1):c.1691A>G (p.His564Arg)
NM_001130965.3(SUN1):c.1693C>A (p.His565Asn) rs1421142069
NM_001130965.3(SUN1):c.169C>T (p.Arg57Cys)
NM_001130965.3(SUN1):c.170G>A (p.Arg57His)
NM_001130965.3(SUN1):c.1715T>C (p.Leu572Pro)
NM_001130965.3(SUN1):c.1732G>A (p.Val578Met) rs201804636
NM_001130965.3(SUN1):c.1750G>A (p.Glu584Lys)
NM_001130965.3(SUN1):c.1753G>A (p.Ala585Thr)
NM_001130965.3(SUN1):c.1777G>T (p.Ala593Ser) rs952938105
NM_001130965.3(SUN1):c.1778C>T (p.Ala593Val)
NM_001130965.3(SUN1):c.185C>T (p.Ala62Val)
NM_001130965.3(SUN1):c.1863T>G (p.Gly621=)
NM_001130965.3(SUN1):c.1869C>T (p.Gly623=)
NM_001130965.3(SUN1):c.1902C>G (p.Tyr634Ter)
NM_001130965.3(SUN1):c.1906A>G (p.Thr636Ala) rs201361158
NM_001130965.3(SUN1):c.1913C>T (p.Thr638Met) rs539468692
NM_001130965.3(SUN1):c.1964C>T (p.Pro655Leu) rs1193272206
NM_001130965.3(SUN1):c.19C>T (p.His7Tyr)
NM_001130965.3(SUN1):c.200A>T (p.Asp67Val) rs371817690
NM_001130965.3(SUN1):c.2054T>A (p.Met685Lys) rs1839819500
NM_001130965.3(SUN1):c.2057T>C (p.Ile686Thr)
NM_001130965.3(SUN1):c.2108C>G (p.Thr703Arg)
NM_001130965.3(SUN1):c.2119A>G (p.Ser707Gly) rs373518804
NM_001130965.3(SUN1):c.2158A>G (p.Asn720Asp)
NM_001130965.3(SUN1):c.2161G>A (p.Glu721Lys)
NM_001130965.3(SUN1):c.2163G>C (p.Glu721Asp)
NM_001130965.3(SUN1):c.2229G>C (p.Met743Ile)
NM_001130965.3(SUN1):c.2269A>G (p.Ile757Val)
NM_001130965.3(SUN1):c.226G>A (p.Gly76Ser) rs114826023
NM_001130965.3(SUN1):c.2271A>G (p.Ile757Met) rs1221855051
NM_001130965.3(SUN1):c.2280_2281delinsAA (p.Leu760_Arg761=)
NM_001130965.3(SUN1):c.2320C>G (p.Leu774Val)
NM_001130965.3(SUN1):c.2331C>A (p.Phe777Leu)
NM_001130965.3(SUN1):c.241G>C (p.Val81Leu)
NM_001130965.3(SUN1):c.251A>G (p.Lys84Arg)
NM_001130965.3(SUN1):c.254A>T (p.Asn85Ile)
NM_001130965.3(SUN1):c.257G>A (p.Arg86Gln) rs375668872
NM_001130965.3(SUN1):c.267-6del rs747866078
NM_001130965.3(SUN1):c.326G>C (p.Arg109Thr) rs778427452
NM_001130965.3(SUN1):c.355G>A (p.Gly119Ser)
NM_001130965.3(SUN1):c.385A>G (p.Thr129Ala) rs2128296982
NM_001130965.3(SUN1):c.388C>T (p.Arg130Ter)
NM_001130965.3(SUN1):c.389G>T (p.Arg130Leu) rs781471011
NM_001130965.3(SUN1):c.397C>T (p.Pro133Ser)
NM_001130965.3(SUN1):c.398C>A (p.Pro133His) rs367835809
NM_001130965.3(SUN1):c.413C>G (p.Ser138Cys)
NM_001130965.3(SUN1):c.421C>T (p.Arg141Cys)
NM_001130965.3(SUN1):c.422G>A (p.Arg141His)
NM_001130965.3(SUN1):c.447C>A (p.Phe149Leu) rs1810622107
NM_001130965.3(SUN1):c.449G>C (p.Trp150Ser)
NM_001130965.3(SUN1):c.461A>G (p.Asp154Gly)
NM_001130965.3(SUN1):c.470A>G (p.Asp157Gly) rs780997836
NM_001130965.3(SUN1):c.514G>A (p.Val172Met)
NM_001130965.3(SUN1):c.520GCC[5] (p.Ala177dup) rs1422408344
NM_001130965.3(SUN1):c.523G>A (p.Ala175Thr)
NM_001130965.3(SUN1):c.544G>A (p.Gly182Ser)
NM_001130965.3(SUN1):c.563G>A (p.Cys188Tyr)
NM_001130965.3(SUN1):c.569T>C (p.Met190Thr) rs932480227
NM_001130965.3(SUN1):c.577G>A (p.Glu193Lys)
NM_001130965.3(SUN1):c.604C>A (p.Pro202Thr) rs2128306216
NM_001130965.3(SUN1):c.613C>T (p.Pro205Ser) rs912561766
NM_001130965.3(SUN1):c.622G>T (p.Val208Leu) rs539058781
NM_001130965.3(SUN1):c.624_625insGGGTGCTCACGGCGCACCCCGCGGCCCCCGGGCCCGTG (p.Ser209fs)
NM_001130965.3(SUN1):c.652C>A (p.Gln218Lys)
NM_001130965.3(SUN1):c.659-2A>G
NM_001130965.3(SUN1):c.659-2A>T rs1329817920
NM_001130965.3(SUN1):c.671T>G (p.Leu224Arg) rs2128381511
NM_001130965.3(SUN1):c.676_686del (p.Ile226fs) rs774843286
NM_001130965.3(SUN1):c.679C>G (p.Leu227Val)
NM_001130965.3(SUN1):c.687G>T (p.Arg229Ser)
NM_001130965.3(SUN1):c.691G>C (p.Gly231Arg) rs753073325
NM_001130965.3(SUN1):c.697G>C (p.Val233Leu) rs377582591
NM_001130965.3(SUN1):c.715A>G (p.Arg239Gly) rs879232845
NM_001130965.3(SUN1):c.71C>T (p.Ala24Val)
NM_001130965.3(SUN1):c.722C>A (p.Ala241Glu)
NM_001130965.3(SUN1):c.739C>G (p.Leu247Val) rs1368322510
NM_001130965.3(SUN1):c.743C>G (p.Ala248Gly) rs1393440678
NM_001130965.3(SUN1):c.745G>A (p.Val249Met)
NM_001130965.3(SUN1):c.748G>T (p.Val250Phe) rs1562696580
NM_001130965.3(SUN1):c.77+1G>A rs1798962063
NM_001130965.3(SUN1):c.77+1del rs1272210110
NM_001130965.3(SUN1):c.78-19A>G
NM_001130965.3(SUN1):c.791G>A (p.Gly264Glu) rs2128387566
NM_001130965.3(SUN1):c.7T>C (p.Phe3Leu)
NM_001130965.3(SUN1):c.819G>T (p.Leu273Phe) rs2128387711
NM_001130965.3(SUN1):c.835G>C (p.Val279Leu) rs1241533008
NM_001130965.3(SUN1):c.851+5G>A
NM_001130965.3(SUN1):c.859C>T (p.Arg287Ter) rs961930316
NM_001130965.3(SUN1):c.860G>A (p.Arg287Gln)
NM_001130965.3(SUN1):c.865A>G (p.Ile289Val) rs758027769
NM_001130965.3(SUN1):c.898T>G (p.Phe300Val)
NM_001130965.3(SUN1):c.904T>A (p.Leu302Ile)
NM_001130965.3(SUN1):c.910+2T>C rs1823355041
NM_001130965.3(SUN1):c.911-3T>C
NM_001130965.3(SUN1):c.932A>G (p.Gln311Arg)
NM_001130965.3(SUN1):c.945T>A (p.Phe315Leu) rs760512224
NM_001130965.3(SUN1):c.94G>A (p.Asp32Asn)
NM_001130965.3(SUN1):c.980A>G (p.His327Arg)
NM_001130965.3(SUN1):c.991C>T (p.Arg331Trp)
NM_001130965.3(SUN1):c.994G>C (p.Val332Leu)
NM_005572.3(LMNA):c.-225C>A rs886045355
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_015374.3(SUN2):c.1013G>A (p.Arg338His)
NM_015374.3(SUN2):c.1015C>T (p.Arg339Cys)
NM_015374.3(SUN2):c.1016G>T (p.Arg339Leu)
NM_015374.3(SUN2):c.1057G>A (p.Ala353Thr)
NM_015374.3(SUN2):c.1058C>G (p.Ala353Gly)
NM_015374.3(SUN2):c.1060C>T (p.Arg354Cys)
NM_015374.3(SUN2):c.1072G>C (p.Glu358Gln) rs2092858191
NM_015374.3(SUN2):c.1081G>T (p.Ala361Ser) rs2092858095
NM_015374.3(SUN2):c.1090G>C (p.Ala364Pro) rs2145970738
NM_015374.3(SUN2):c.1110AGA[1] (p.Glu371del) rs1448167208
NM_015374.3(SUN2):c.1114G>T (p.Asp372Tyr)
NM_015374.3(SUN2):c.1115A>G (p.Asp372Gly)
NM_015374.3(SUN2):c.1146+3C>A rs2092857349
NM_015374.3(SUN2):c.1184G>A (p.Trp395Ter)
NM_015374.3(SUN2):c.1190+4C>A
NM_015374.3(SUN2):c.1191-3C>T rs2145957103
NM_015374.3(SUN2):c.1251G>C (p.Gln417His)
NM_015374.3(SUN2):c.1261C>G (p.Leu421Val) rs780688397
NM_015374.3(SUN2):c.1307C>T (p.Ala436Val)
NM_015374.3(SUN2):c.1345G>C (p.Val449Leu) rs117350165
NM_015374.3(SUN2):c.1348C>T (p.Arg450Trp)
NM_015374.3(SUN2):c.1352A>G (p.Asp451Gly) rs2092844667
NM_015374.3(SUN2):c.1396G>A (p.Ala466Thr)
NM_015374.3(SUN2):c.1399C>G (p.Arg467Gly)
NM_015374.3(SUN2):c.1400G>A (p.Arg467Gln)
NM_015374.3(SUN2):c.1406G>C (p.Gly469Ala)
NM_015374.3(SUN2):c.1409G>C (p.Gly470Ala)
NM_015374.3(SUN2):c.1414C>T (p.Arg472Cys)
NM_015374.3(SUN2):c.1421_1429del (p.Gly474_Gln477delinsGlu) rs2145950062
NM_015374.3(SUN2):c.1435G>C (p.Glu479Gln)
NM_015374.3(SUN2):c.1510G>C (p.Ala504Pro)
NM_015374.3(SUN2):c.154C>T (p.Arg52Cys)
NM_015374.3(SUN2):c.1562T>C (p.Ile521Thr)
NM_015374.3(SUN2):c.1579-16G>A
NM_015374.3(SUN2):c.1579C>G (p.Gln527Glu)
NM_015374.3(SUN2):c.1585C>T (p.His529Tyr)
NM_015374.3(SUN2):c.1612C>T (p.Arg538Cys) rs2092835149
NM_015374.3(SUN2):c.1648G>A (p.Ala550Thr)
NM_015374.3(SUN2):c.1663+4C>G
NM_015374.3(SUN2):c.1663+5G>A
NM_015374.3(SUN2):c.1672G>A (p.Val558Ile)
NM_015374.3(SUN2):c.167C>T (p.Ala56Val)
NM_015374.3(SUN2):c.1691C>G (p.Ser564Cys) rs1352285124
NM_015374.3(SUN2):c.1702G>A (p.Glu568Lys)
NM_015374.3(SUN2):c.1765C>T (p.Arg589Ter)
NM_015374.3(SUN2):c.1797C>T (p.Gly599=) rs749129041
NM_015374.3(SUN2):c.1807G>A (p.Ala603Thr) rs1384723835
NM_015374.3(SUN2):c.1826G>C (p.Gly609Ala) rs949979981
NM_015374.3(SUN2):c.182C>T (p.Pro61Leu)
NM_015374.3(SUN2):c.1838T>C (p.Val613Ala)
NM_015374.3(SUN2):c.1840C>T (p.Arg614Cys)
NM_015374.3(SUN2):c.1841G>A (p.Arg614His)
NM_015374.3(SUN2):c.185C>G (p.Ser62Cys)
NM_015374.3(SUN2):c.1886T>C (p.Val629Ala) rs2092828049
NM_015374.3(SUN2):c.1894G>A (p.Ala632Thr) rs1021027363
NM_015374.3(SUN2):c.1921A>T (p.Ser641Cys) rs2092827661
NM_015374.3(SUN2):c.1940C>T (p.Ala647Val)
NM_015374.3(SUN2):c.1972G>A (p.Glu658Lys)
NM_015374.3(SUN2):c.19C>T (p.Arg7Cys)
NM_015374.3(SUN2):c.2013C>T (p.Gly671=)
NM_015374.3(SUN2):c.2017C>A (p.Pro673Thr)
NM_015374.3(SUN2):c.2032C>T (p.His678Tyr) rs771616583
NM_015374.3(SUN2):c.2040+19_2040+21delinsGCGTACCTGGGCAGATGCAGGTACGGGAT
NM_015374.3(SUN2):c.2040+5G>A
NM_015374.3(SUN2):c.2048C>T (p.Thr683Met)
NM_015374.3(SUN2):c.2053del (p.Ala685fs) rs1264903354
NM_015374.3(SUN2):c.2073G>C (p.Glu691Asp)
NM_015374.3(SUN2):c.2078G>A (p.Arg693Gln) rs137996727
NM_015374.3(SUN2):c.2078G>T (p.Arg693Leu)
NM_015374.3(SUN2):c.2094G>C (p.Trp698Cys)
NM_015374.3(SUN2):c.20G>A (p.Arg7His)
NM_015374.3(SUN2):c.2104G>A (p.Glu702Lys)
NM_015374.3(SUN2):c.2104G>C (p.Glu702Gln)
NM_015374.3(SUN2):c.2122C>T (p.Arg708Cys)
NM_015374.3(SUN2):c.2140G>A (p.Glu714Lys) rs2092804001
NM_015374.3(SUN2):c.2147C>A (p.Ala716Asp)
NM_015374.3(SUN2):c.2151C>A (p.His717Gln) rs917841252
NM_015374.3(SUN2):c.218C>T (p.Ser73Leu)
NM_015374.3(SUN2):c.229G>A (p.Glu77Lys)
NM_015374.3(SUN2):c.245C>A (p.Pro82His) rs2092943711
NM_015374.3(SUN2):c.254C>A (p.Ser85Tyr)
NM_015374.3(SUN2):c.286+3G>C rs539528181
NM_015374.3(SUN2):c.299G>A (p.Arg100Gln)
NM_015374.3(SUN2):c.306GAG[2] (p.Arg105del) rs774003824
NM_015374.3(SUN2):c.309G>T (p.Arg103Ser)
NM_015374.3(SUN2):c.311G>A (p.Arg104Lys)
NM_015374.3(SUN2):c.320C>G (p.Thr107Arg) rs775966191
NM_015374.3(SUN2):c.415G>A (p.Asp139Asn) rs764864329
NM_015374.3(SUN2):c.425-3C>T rs368321480
NM_015374.3(SUN2):c.437T>C (p.Val146Ala)
NM_015374.3(SUN2):c.437T>G (p.Val146Gly) rs777319339
NM_015374.3(SUN2):c.449G>C (p.Ser150Thr)
NM_015374.3(SUN2):c.451T>G (p.Ser151Ala)
NM_015374.3(SUN2):c.452C>G (p.Ser151Cys)
NM_015374.3(SUN2):c.460C>T (p.Arg154Trp) rs150906372
NM_015374.3(SUN2):c.470G>A (p.Ser157Asn) rs1556013290
NM_015374.3(SUN2):c.482G>A (p.Arg161Gln)
NM_015374.3(SUN2):c.520G>C (p.Gly174Arg) rs1390604251
NM_015374.3(SUN2):c.539T>C (p.Leu180Pro) rs2092930754
NM_015374.3(SUN2):c.550G>T (p.Ala184Ser) rs2092930608
NM_015374.3(SUN2):c.55A>G (p.Ser19Gly)
NM_015374.3(SUN2):c.55AGC[3] (p.Ser22del) rs781129819
NM_015374.3(SUN2):c.569G>T (p.Arg190Leu) rs149088273
NM_015374.3(SUN2):c.614+3G>A rs2146065638
NM_015374.3(SUN2):c.617G>T (p.Arg206Leu) rs568825133
NM_015374.3(SUN2):c.671C>T (p.Thr224Met)
NM_015374.3(SUN2):c.688G>C (p.Ala230Pro)
NM_015374.3(SUN2):c.736G>A (p.Val246Ile)
NM_015374.3(SUN2):c.74G>A (p.Ser25Asn)
NM_015374.3(SUN2):c.752C>G (p.Ala251Gly) rs1051031562
NM_015374.3(SUN2):c.752C>T (p.Ala251Val)
NM_015374.3(SUN2):c.778G>A (p.Gly260Ser)
NM_015374.3(SUN2):c.791G>A (p.Arg264Lys) rs901495726
NM_015374.3(SUN2):c.799T>C (p.Ser267Pro)
NM_015374.3(SUN2):c.823C>T (p.Arg275Cys)
NM_015374.3(SUN2):c.874G>A (p.Ala292Thr) rs2145981465
NM_015374.3(SUN2):c.920G>A (p.Arg307His)
NM_015374.3(SUN2):c.929T>C (p.Leu310Pro)
NM_015374.3(SUN2):c.92A>G (p.Gln31Arg)
NM_015374.3(SUN2):c.952G>A (p.Gly318Arg) rs762660159
NM_015374.3(SUN2):c.988G>C (p.Ala330Pro)
NM_015374.3(SUN2):c.989C>T (p.Ala330Val) rs564884199
NM_015374.3(SUN2):c.992T>C (p.Leu331Pro)
NM_170707.4(LMNA):c.-142C>A rs886045358
NM_170707.4(LMNA):c.-183C>A rs886045357
NM_170707.4(LMNA):c.-5C>A rs886045362
NM_170707.4(LMNA):c.-62C>A rs886045361
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) rs505058
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1698+124C>T rs1057516022
NM_170707.4(LMNA):c.356+12C>A rs1649747809
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) rs1651418246
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300
NM_182914.3(SYNE2):c.1129-4_1129-3del rs886050578
NM_182914.3(SYNE2):c.12001_12002inv (p.Trp4001Gln)
NM_182914.3(SYNE2):c.8928T>G (p.Gly2976=) rs373828834
NM_182961.4(SYNE1):c.*580del rs886061186
NM_182961.4(SYNE1):c.*667del rs71660056
NM_182961.4(SYNE1):c.10302A>G (p.Leu3434=) rs886061205
NM_182961.4(SYNE1):c.21523-8dup rs761577958
NM_182961.4(SYNE1):c.21980T>A (p.Leu7327His) rs756758310
NM_182961.4(SYNE1):c.25070G>A (p.Arg8357His) rs766534980
NM_182961.4(SYNE1):c.3670-14del rs111322292
NM_182961.4(SYNE1):c.7713-12_7713-11delinsTTTTTTTCT rs764324594
NM_182961.4(SYNE1):c.7713-18_7713-13dup rs756232172
NM_182961.4(SYNE1):c.7713-19_7713-13dup rs756232172

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