ClinVar Miner

List of variants in gene SUN1 reported as uncertain significance for Emery-Dreifuss muscular dystrophy

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Gene type:
ClinVar version:
Total variants: 240
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HGVS dbSNP gnomAD frequency
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_001130965.3(SUN1):c.733C>G (p.Leu245Val) rs377094306 0.00039
NM_001130965.3(SUN1):c.335C>T (p.Thr112Met) rs183872262 0.00031
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_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_001130965.3(SUN1):c.1531G>A (p.Val511Met) rs369117433 0.00015
NM_001130965.3(SUN1):c.599C>T (p.Ala200Val) rs368907584 0.00015
NM_001130965.3(SUN1):c.1754C>T (p.Ala585Val) rs377135952 0.00014
NM_001130965.3(SUN1):c.289A>T (p.Thr97Ser) rs536026654 0.00013
NM_001130965.3(SUN1):c.233G>A (p.Ser78Asn) rs780522800 0.00012
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_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_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_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.281G>A (p.Arg94His) rs112598200 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_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_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_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_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.720G>A (p.Thr240=) rs186121469 0.00002
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.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
NC_000007.14:g.(?_832495)_(873341_?)dup
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.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.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.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.78-19A>G
NM_001130965.3(SUN1):c.791G>A (p.Gly264Glu) rs2128387566
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)

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