ClinVar Miner

List of variants reported as likely benign for Emery-Dreifuss muscular dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 371
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=) rs138769395 0.00232
NM_001130965.3(SUN1):c.1760C>T (p.Ala587Val) rs114701323 0.00206
NM_015374.3(SUN2):c.1354G>A (p.Asp452Asn) rs147351772 0.00205
NM_001130965.3(SUN1):c.2237C>T (p.Ala746Val) rs189728809 0.00133
NM_015374.3(SUN2):c.467G>A (p.Arg156Gln) rs137925849 0.00125
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_001130965.3(SUN1):c.2148+20C>G rs202040489 0.00101
NM_015374.3(SUN2):c.1858C>T (p.Arg620Cys) rs141013997 0.00095
NM_001130965.3(SUN1):c.2251G>A (p.Asp751Asn) rs200503893 0.00083
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_001130965.3(SUN1):c.2143G>A (p.Val715Ile) rs200907784 0.00074
NM_001130965.3(SUN1):c.235A>G (p.Ser79Gly) rs199999269 0.00068
NM_015374.3(SUN2):c.28C>T (p.Arg10Cys) rs139611023 0.00063
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950 0.00059
NM_015374.3(SUN2):c.1647C>T (p.Tyr549=) rs140661422 0.00054
NM_015374.3(SUN2):c.1043G>A (p.Arg348His) rs142901119 0.00053
NM_015374.3(SUN2):c.1542G>A (p.Thr514=) rs144975270 0.00051
NM_170707.4(LMNA):c.-128T>C rs80356803 0.00051
NM_015374.3(SUN2):c.1146+7G>A rs369532029 0.00048
NM_015374.3(SUN2):c.686-12C>T rs372413342 0.00038
NM_015374.3(SUN2):c.432G>A (p.Ser144=) rs140094524 0.00034
NM_015374.3(SUN2):c.657G>A (p.Pro219=) rs143617240 0.00026
NM_001130965.3(SUN1):c.543C>T (p.Asn181=) rs372377655 0.00024
NM_015374.3(SUN2):c.615-10C>T rs375410049 0.00024
NM_015374.3(SUN2):c.1533G>C (p.Leu511=) rs528608235 0.00022
NM_001130965.3(SUN1):c.2282G>A (p.Arg761Gln) rs199515429 0.00021
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00020
NM_001130965.3(SUN1):c.451+13G>A rs376973725 0.00019
NM_182914.3(SYNE2):c.12370G>T (p.Val4124Leu) rs370255444 0.00019
NM_015374.3(SUN2):c.1191-4C>T rs754222779 0.00017
NM_015374.3(SUN2):c.461G>A (p.Arg154Gln) rs143392390 0.00017
NM_015374.3(SUN2):c.1190+10G>A rs367607098 0.00016
NM_015374.3(SUN2):c.1671C>T (p.Ser557=) rs150014549 0.00016
NM_015374.3(SUN2):c.1716C>T (p.Ala572=) rs369397415 0.00016
NM_015374.3(SUN2):c.425-11G>A rs774550032 0.00016
NM_015374.3(SUN2):c.615-11G>A rs368890492 0.00016
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=) rs185829704 0.00015
NM_015374.3(SUN2):c.2034C>T (p.His678=) rs539775471 0.00014
NM_015374.3(SUN2):c.287-16G>A rs749337613 0.00014
NM_001130965.3(SUN1):c.1398G>A (p.Ala466=) rs752157539 0.00013
NM_015374.3(SUN2):c.425-9T>C rs375405393 0.00013
NM_015374.3(SUN2):c.635C>T (p.Thr212Met) rs142155226 0.00013
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=) rs141170182 0.00013
NM_015374.3(SUN2):c.396G>A (p.Ser132=) rs374648086 0.00012
NM_001130965.3(SUN1):c.1230G>A (p.Ser410=) rs377176751 0.00011
NM_001130965.3(SUN1):c.1647G>A (p.Thr549=) rs369056112 0.00011
NM_001130965.3(SUN1):c.478+15C>T rs199865981 0.00011
NM_015374.3(SUN2):c.520+8G>A rs201387591 0.00011
NM_001130965.3(SUN1):c.1221G>A (p.Pro407=) rs373057888 0.00010
NM_001130965.3(SUN1):c.227G>C (p.Gly76Ala) rs149038179 0.00010
NM_001130965.3(SUN1):c.267-17T>G rs527315917 0.00010
NM_015374.3(SUN2):c.672G>A (p.Thr224=) rs767229084 0.00010
NM_015374.3(SUN2):c.425-4G>A rs372875785 0.00009
NM_015374.3(SUN2):c.773A>G (p.Asp258Gly) rs201945306 0.00009
NM_015374.3(SUN2):c.836G>A (p.Arg279Gln) rs188815884 0.00009
NM_001130965.3(SUN1):c.1002C>T (p.Asp334=) rs201953343 0.00008
NM_001130965.3(SUN1):c.1026G>A (p.Thr342=) rs370468947 0.00008
NM_001130965.3(SUN1):c.1264-14T>G rs1554263715 0.00008
NM_015374.3(SUN2):c.51C>T (p.Asp17=) rs759125687 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_000117.3(EMD):c.12C>T (p.Tyr4=) rs782011714 0.00007
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_001130965.3(SUN1):c.1968C>T (p.Arg656=) rs774990499 0.00007
NM_001130965.3(SUN1):c.2198C>T (p.Thr733Met) rs201199820 0.00007
NM_001130965.3(SUN1):c.69T>C (p.Tyr23=) rs373597219 0.00007
NM_015374.3(SUN2):c.1374G>A (p.Pro458=) rs940859685 0.00007
NM_001130965.3(SUN1):c.1263+7G>T rs758135165 0.00006
NM_001130965.3(SUN1):c.266+10G>A rs369172026 0.00006
NM_001130965.3(SUN1):c.537G>A (p.Ala179=) rs778621413 0.00006
NM_001130965.3(SUN1):c.621C>T (p.Pro207=) rs367825879 0.00006
NM_015374.3(SUN2):c.1152C>T (p.Ser384=) rs373906710 0.00006
NM_015374.3(SUN2):c.1190+9C>T rs778700058 0.00006
NM_015374.3(SUN2):c.1353C>T (p.Asp451=) rs373597815 0.00006
NM_015374.3(SUN2):c.1779+7A>T rs374667255 0.00006
NM_015374.3(SUN2):c.459G>A (p.Ser153=) rs138320872 0.00006
NM_015374.3(SUN2):c.615-9G>A rs757921553 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_001130965.3(SUN1):c.2220G>A (p.Ser740=) rs375028589 0.00005
NM_001130965.3(SUN1):c.452-14G>T rs200870545 0.00005
NM_001130965.3(SUN1):c.597G>A (p.Thr199=) rs374832216 0.00005
NM_015374.3(SUN2):c.1275G>A (p.Leu425=) rs567254059 0.00005
NM_015374.3(SUN2):c.45C>T (p.Asp15=) rs146335558 0.00005
NM_015374.3(SUN2):c.726C>T (p.His242=) rs539723941 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_000117.3(EMD):c.171C>T (p.Ser57=) rs900267221 0.00004
NM_000117.3(EMD):c.585A>G (p.Ser195=) rs140970151 0.00004
NM_001130965.3(SUN1):c.1455A>G (p.Leu485=) rs1025148320 0.00004
NM_001130965.3(SUN1):c.1683C>T (p.Asn561=) rs775680958 0.00004
NM_001130965.3(SUN1):c.180G>A (p.Thr60=) rs775796501 0.00004
NM_001130965.3(SUN1):c.1902C>T (p.Tyr634=) rs770512687 0.00004
NM_001130965.3(SUN1):c.2010A>G (p.Ala670=) rs765841616 0.00004
NM_001130965.3(SUN1):c.2238C>T (p.Ala746=) rs199630068 0.00004
NM_001130965.3(SUN1):c.408C>T (p.Asp136=) rs575219579 0.00004
NM_001130965.3(SUN1):c.72G>A (p.Ala24=) rs560089031 0.00004
NM_001130965.3(SUN1):c.873G>A (p.Lys291=) rs373974517 0.00004
NM_015374.3(SUN2):c.1257C>T (p.Ala419=) rs377483966 0.00004
NM_015374.3(SUN2):c.1344C>T (p.Ala448=) rs763054336 0.00004
NM_015374.3(SUN2):c.1541C>T (p.Thr514Met) rs567532014 0.00004
NM_015374.3(SUN2):c.1948-13G>A rs768318554 0.00004
NM_015374.3(SUN2):c.2028G>A (p.Thr676=) rs775107257 0.00004
NM_015374.3(SUN2):c.624G>A (p.Ser208=) rs747299144 0.00004
NM_015374.3(SUN2):c.763A>C (p.Arg255=) rs781191176 0.00004
NM_000117.3(EMD):c.234G>A (p.Lys78=) rs781889152 0.00003
NM_000117.3(EMD):c.714C>T (p.Val238=) rs782290874 0.00003
NM_001130965.3(SUN1):c.1053+8G>T rs750944051 0.00003
NM_001130965.3(SUN1):c.1239C>T (p.Asp413=) rs373058985 0.00003
NM_001130965.3(SUN1):c.1326G>T (p.Leu442=) rs375435638 0.00003
NM_001130965.3(SUN1):c.1854G>C (p.Leu618=) rs544613266 0.00003
NM_001130965.3(SUN1):c.48G>A (p.Pro16=) rs774055457 0.00003
NM_001130965.3(SUN1):c.948G>A (p.Ser316=) rs776253918 0.00003
NM_015374.3(SUN2):c.1068+7G>A rs373080183 0.00003
NM_015374.3(SUN2):c.1069-9G>A rs779944981 0.00003
NM_015374.3(SUN2):c.147C>T (p.Asn49=) rs769644853 0.00003
NM_015374.3(SUN2):c.2058G>A (p.Thr686=) rs140261344 0.00003
NM_015374.3(SUN2):c.2103C>T (p.Pro701=) rs748074497 0.00003
NM_015374.3(SUN2):c.243A>C (p.Pro81=) rs745316329 0.00003
NM_015374.3(SUN2):c.636G>A (p.Thr212=) rs200221237 0.00003
NM_015374.3(SUN2):c.681G>A (p.Thr227=) rs754563807 0.00003
NM_015374.3(SUN2):c.990G>A (p.Ala330=) rs749535489 0.00003
NM_000117.3(EMD):c.662G>T (p.Arg221Leu) rs782057378 0.00002
NM_000117.3(EMD):c.717C>T (p.Leu239=) rs782369799 0.00002
NM_001130965.3(SUN1):c.1092C>T (p.Gly364=) rs777887455 0.00002
NM_001130965.3(SUN1):c.1525-18C>T rs768301493 0.00002
NM_001130965.3(SUN1):c.1659C>T (p.Asp553=) rs752578715 0.00002
NM_001130965.3(SUN1):c.1780-8C>T rs755436273 0.00002
NM_001130965.3(SUN1):c.1941G>A (p.Pro647=) rs199720270 0.00002
NM_001130965.3(SUN1):c.1959G>A (p.Gln653=) rs745489333 0.00002
NM_001130965.3(SUN1):c.2034G>T (p.Leu678=) rs1160213850 0.00002
NM_001130965.3(SUN1):c.2142C>T (p.Ala714=) rs561697837 0.00002
NM_001130965.3(SUN1):c.345C>T (p.Gly115=) rs538774385 0.00002
NM_001130965.3(SUN1):c.525C>T (p.Ala175=) rs368543045 0.00002
NM_001130965.3(SUN1):c.885G>C (p.Leu295Phe) rs187616677 0.00002
NM_015374.3(SUN2):c.1416C>T (p.Arg472=) rs199929528 0.00002
NM_015374.3(SUN2):c.168G>A (p.Ala56=) rs561928372 0.00002
NM_015374.3(SUN2):c.333G>A (p.Glu111=) rs772494839 0.00002
NM_015374.3(SUN2):c.516G>A (p.Ser172=) rs545823498 0.00002
NM_015374.3(SUN2):c.633G>A (p.Lys211=) rs1347064197 0.00002
NM_015374.3(SUN2):c.741C>T (p.Ser247=) rs1342698251 0.00002
NM_000117.3(EMD):c.132G>A (p.Gln44=) rs1322660028 0.00001
NM_000117.3(EMD):c.153C>A (p.Pro51=) rs782051850 0.00001
NM_000117.3(EMD):c.582A>C (p.Ser194=) rs781933286 0.00001
NM_001130965.3(SUN1):c.1053+13A>G rs1823649625 0.00001
NM_001130965.3(SUN1):c.1137T>C (p.His379=) rs1275509881 0.00001
NM_001130965.3(SUN1):c.1194C>T (p.Asp398=) rs1403321463 0.00001
NM_001130965.3(SUN1):c.1209C>T (p.Gly403=) rs376921792 0.00001
NM_001130965.3(SUN1):c.1263+12C>T rs777780305 0.00001
NM_001130965.3(SUN1):c.1512C>T (p.Ala504=) rs748209663 0.00001
NM_001130965.3(SUN1):c.1525-4C>T rs1831070967 0.00001
NM_001130965.3(SUN1):c.1755G>A (p.Ala585=) rs749583423 0.00001
NM_001130965.3(SUN1):c.1779+10C>A rs751444425 0.00001
NM_001130965.3(SUN1):c.1785A>T (p.Ala595=) rs1554264398 0.00001
NM_001130965.3(SUN1):c.1827T>C (p.Asp609=) rs1351990939 0.00001
NM_001130965.3(SUN1):c.1980+10C>T rs750855204 0.00001
NM_001130965.3(SUN1):c.1980+13C>T rs367667307 0.00001
NM_001130965.3(SUN1):c.1980+20C>T rs755016066 0.00001
NM_001130965.3(SUN1):c.2115C>T (p.Asn705=) rs1265067455 0.00001
NM_001130965.3(SUN1):c.2124C>T (p.Ser708=) rs376370215 0.00001
NM_001130965.3(SUN1):c.2139C>T (p.Phe713=) rs777094056 0.00001
NM_001130965.3(SUN1):c.225C>T (p.Ser75=) rs777759377 0.00001
NM_001130965.3(SUN1):c.2307T>C (p.Pro769=) rs201787522 0.00001
NM_001130965.3(SUN1):c.363T>C (p.Thr121=) rs1266147950 0.00001
NM_001130965.3(SUN1):c.429G>A (p.Gln143=) rs776271425 0.00001
NM_001130965.3(SUN1):c.435A>G (p.Thr145=) rs372424923 0.00001
NM_001130965.3(SUN1):c.451+7C>T rs764595368 0.00001
NM_001130965.3(SUN1):c.478+9T>C rs1811934380 0.00001
NM_001130965.3(SUN1):c.479-15G>A rs1191123208 0.00001
NM_001130965.3(SUN1):c.531C>T (p.Ala177=) rs1264934996 0.00001
NM_001130965.3(SUN1):c.690C>T (p.Ile230=) rs765886591 0.00001
NM_001130965.3(SUN1):c.849C>T (p.Thr283=) rs534584477 0.00001
NM_001130965.3(SUN1):c.957C>T (p.Pro319=) rs749410045 0.00001
NM_015374.3(SUN2):c.1023T>C (p.Ala341=) rs762795807 0.00001
NM_015374.3(SUN2):c.1047G>A (p.Arg349=) rs768221118 0.00001
NM_015374.3(SUN2):c.1173G>C (p.Leu391=) rs771977029 0.00001
NM_015374.3(SUN2):c.1299C>T (p.Ser433=) rs1442161052 0.00001
NM_015374.3(SUN2):c.1359G>A (p.Val453=) rs745348691 0.00001
NM_015374.3(SUN2):c.1422G>C (p.Gly474=) rs1603217338 0.00001
NM_015374.3(SUN2):c.1509G>A (p.Ser503=) rs767238921 0.00001
NM_015374.3(SUN2):c.1869C>T (p.Ala623=) rs762930089 0.00001
NM_015374.3(SUN2):c.1920C>T (p.Ser640=) rs779490476 0.00001
NM_015374.3(SUN2):c.231G>A (p.Glu77=) rs760297349 0.00001
NM_015374.3(SUN2):c.342G>A (p.Arg114=) rs773389007 0.00001
NM_015374.3(SUN2):c.357G>A (p.Val119=) rs1603229883 0.00001
NM_015374.3(SUN2):c.425-12C>T rs773495171 0.00001
NM_015374.3(SUN2):c.474C>T (p.Ala158=) rs1211809169 0.00001
NM_015374.3(SUN2):c.57C>T (p.Ser19=) rs374169188 0.00001
NM_015374.3(SUN2):c.603C>T (p.Phe201=) rs1048872109 0.00001
NM_015374.3(SUN2):c.828T>C (p.Val276=) rs758769460 0.00001
NM_015374.3(SUN2):c.885C>T (p.Ser295=) rs537062653 0.00001
NM_015374.3(SUN2):c.996G>A (p.Leu332=) rs1228066052 0.00001
NM_001130965.3(SUN1):c.1053+7G>A rs2128396512
NM_001130965.3(SUN1):c.1068T>A (p.Ala356=) rs2128400415
NM_001130965.3(SUN1):c.1074G>A (p.Pro358=)
NM_001130965.3(SUN1):c.1080T>C (p.His360=) rs1554263560
NM_001130965.3(SUN1):c.1104G>A (p.Gln368=) rs1279863264
NM_001130965.3(SUN1):c.1116G>A (p.Leu372=)
NM_001130965.3(SUN1):c.1215C>T (p.Ala405=)
NM_001130965.3(SUN1):c.1230G>T (p.Ser410=)
NM_001130965.3(SUN1):c.1251G>A (p.Gln417=)
NM_001130965.3(SUN1):c.1257G>A (p.Pro419=) rs370495368
NM_001130965.3(SUN1):c.1290A>G (p.Glu430=)
NM_001130965.3(SUN1):c.129C>T (p.Asp43=)
NM_001130965.3(SUN1):c.132T>A (p.Pro44=) rs551076611
NM_001130965.3(SUN1):c.1350+13G>C rs368425106
NM_001130965.3(SUN1):c.1351-11A>G
NM_001130965.3(SUN1):c.1351-12C>G
NM_001130965.3(SUN1):c.1351-12C>T rs1342294473
NM_001130965.3(SUN1):c.1394+20_1394+21del
NM_001130965.3(SUN1):c.1395-14C>T
NM_001130965.3(SUN1):c.1395-18C>G rs901766935
NM_001130965.3(SUN1):c.1395-8dup rs767286803
NM_001130965.3(SUN1):c.1416G>A (p.Leu472=)
NM_001130965.3(SUN1):c.1425_1426delinsGA (p.Glu476Lys) rs2128441763
NM_001130965.3(SUN1):c.1440G>A (p.Leu480=) rs1585023977
NM_001130965.3(SUN1):c.1452G>A (p.Gln484=) rs769379867
NM_001130965.3(SUN1):c.1491C>G (p.Thr497=) rs756560984
NM_001130965.3(SUN1):c.1491C>T (p.Thr497=)
NM_001130965.3(SUN1):c.1512C>A (p.Ala504=) rs748209663
NM_001130965.3(SUN1):c.1525-6T>C rs1831067148
NM_001130965.3(SUN1):c.1530C>T (p.Asp510=) rs369720300
NM_001130965.3(SUN1):c.1581C>T (p.Gly527=)
NM_001130965.3(SUN1):c.1587T>C (p.Ser529=) rs1033833962
NM_001130965.3(SUN1):c.1675C>T (p.Leu559=)
NM_001130965.3(SUN1):c.1695C>T (p.His565=)
NM_001130965.3(SUN1):c.1737G>A (p.Val579=)
NM_001130965.3(SUN1):c.174G>C (p.Leu58=) rs776352769
NM_001130965.3(SUN1):c.1779+15C>T
NM_001130965.3(SUN1):c.1779+7C>T rs775564962
NM_001130965.3(SUN1):c.1779+8G>A
NM_001130965.3(SUN1):c.1779+8G>T
NM_001130965.3(SUN1):c.177C>T (p.Ala59=) rs745467961
NM_001130965.3(SUN1):c.1780-12G>A
NM_001130965.3(SUN1):c.1780-19G>A
NM_001130965.3(SUN1):c.1780-20C>T
NM_001130965.3(SUN1):c.1833C>T (p.Thr611=) rs774347766
NM_001130965.3(SUN1):c.1864+14C>A
NM_001130965.3(SUN1):c.193C>T (p.Leu65=) rs774353215
NM_001130965.3(SUN1):c.1956G>A (p.Ser652=)
NM_001130965.3(SUN1):c.1971G>C (p.Val657=)
NM_001130965.3(SUN1):c.1980+12C>T
NM_001130965.3(SUN1):c.1981-6C>A rs766555403
NM_001130965.3(SUN1):c.2046C>T (p.Leu682=) rs1334345429
NM_001130965.3(SUN1):c.2127C>T (p.Ala709=)
NM_001130965.3(SUN1):c.2148+16C>T
NM_001130965.3(SUN1):c.2148+9C>G
NM_001130965.3(SUN1):c.2149-15T>C
NM_001130965.3(SUN1):c.2199G>T (p.Thr733=)
NM_001130965.3(SUN1):c.219C>T (p.Ala73=)
NM_001130965.3(SUN1):c.2241+16G>A
NM_001130965.3(SUN1):c.2241+9T>C rs2128602540
NM_001130965.3(SUN1):c.2241+9dup
NM_001130965.3(SUN1):c.2242-10T>C
NM_001130965.3(SUN1):c.2253C>T (p.Asp751=)
NM_001130965.3(SUN1):c.2265C>T (p.Phe755=)
NM_001130965.3(SUN1):c.2277A>G (p.Glu759=)
NM_001130965.3(SUN1):c.2295C>T (p.Asn765=) rs1465729615
NM_001130965.3(SUN1):c.240T>C (p.Ala80=)
NM_001130965.3(SUN1):c.243C>T (p.Val81=) rs774928207
NM_001130965.3(SUN1):c.258A>G (p.Arg86=)
NM_001130965.3(SUN1):c.261G>A (p.Ala87=)
NM_001130965.3(SUN1):c.266+19C>G
NM_001130965.3(SUN1):c.266+20C>T
NM_001130965.3(SUN1):c.267-10T>C
NM_001130965.3(SUN1):c.267-16T>G rs2128296251
NM_001130965.3(SUN1):c.309T>C (p.Ser103=) rs1810486661
NM_001130965.3(SUN1):c.357C>T (p.Gly119=)
NM_001130965.3(SUN1):c.369C>T (p.Ser123=)
NM_001130965.3(SUN1):c.402A>T (p.Val134=)
NM_001130965.3(SUN1):c.42T>C (p.Cys14=) rs1470629872
NM_001130965.3(SUN1):c.451+19_451+20del
NM_001130965.3(SUN1):c.452-11T>G
NM_001130965.3(SUN1):c.452-13T>G rs1562623023
NM_001130965.3(SUN1):c.452-13_452-12insG rs537734027
NM_001130965.3(SUN1):c.452-18G>A
NM_001130965.3(SUN1):c.510G>C (p.Gly170=) rs771738533
NM_001130965.3(SUN1):c.528C>T (p.Ala176=)
NM_001130965.3(SUN1):c.576C>T (p.Ser192=)
NM_001130965.3(SUN1):c.588C>T (p.Asp196=) rs766319627
NM_001130965.3(SUN1):c.615C>G (p.Pro205=)
NM_001130965.3(SUN1):c.615C>T (p.Pro205=)
NM_001130965.3(SUN1):c.659-10C>T
NM_001130965.3(SUN1):c.659-20C>T
NM_001130965.3(SUN1):c.723G>A (p.Ala241=) rs537602092
NM_001130965.3(SUN1):c.744C>G (p.Ala248=) rs776155785
NM_001130965.3(SUN1):c.757+11T>C
NM_001130965.3(SUN1):c.757+20G>A
NM_001130965.3(SUN1):c.757+9T>G rs1584857820
NM_001130965.3(SUN1):c.77+12C>T
NM_001130965.3(SUN1):c.77+13C>T
NM_001130965.3(SUN1):c.77+18C>T
NM_001130965.3(SUN1):c.78-15G>A rs1806085115
NM_001130965.3(SUN1):c.851+11G>T
NM_001130965.3(SUN1):c.851+9A>G rs1182624920
NM_001130965.3(SUN1):c.852-5C>T
NM_001130965.3(SUN1):c.852-7C>T rs372242822
NM_001130965.3(SUN1):c.910+9A>G
NM_001130965.3(SUN1):c.910+9A>T rs1584888130
NM_001130965.3(SUN1):c.918C>G (p.Leu306=)
NM_015374.3(SUN2):c.1002G>C (p.Gly334=)
NM_015374.3(SUN2):c.1069-10C>T rs751557207
NM_015374.3(SUN2):c.1146+14C>T
NM_015374.3(SUN2):c.1146+15G>A
NM_015374.3(SUN2):c.1146+9G>T
NM_015374.3(SUN2):c.1147-11T>C
NM_015374.3(SUN2):c.1190+15C>A
NM_015374.3(SUN2):c.1218C>T (p.Ser406=) rs1368002307
NM_015374.3(SUN2):c.123-14T>C rs759683752
NM_015374.3(SUN2):c.123-19C>G rs767573606
NM_015374.3(SUN2):c.1231C>G (p.Leu411Val) rs552540669
NM_015374.3(SUN2):c.126C>A (p.Thr42=)
NM_015374.3(SUN2):c.1273C>T (p.Leu425=)
NM_015374.3(SUN2):c.1278G>A (p.Ala426=)
NM_015374.3(SUN2):c.1290G>T (p.Leu430=)
NM_015374.3(SUN2):c.1308G>A (p.Ala436=) rs537365600
NM_015374.3(SUN2):c.1338C>T (p.Ile446=)
NM_015374.3(SUN2):c.1357-10G>T rs2145950862
NM_015374.3(SUN2):c.1392C>T (p.Phe464=)
NM_015374.3(SUN2):c.1437G>A (p.Glu479=) rs1426973731
NM_015374.3(SUN2):c.1455G>A (p.Leu485=) rs1049599036
NM_015374.3(SUN2):c.1485T>C (p.His495=)
NM_015374.3(SUN2):c.1521C>T (p.Ala507=)
NM_015374.3(SUN2):c.1593C>T (p.Ile531=)
NM_015374.3(SUN2):c.165A>C (p.Pro55=)
NM_015374.3(SUN2):c.1664-11T>C
NM_015374.3(SUN2):c.1664-18C>T
NM_015374.3(SUN2):c.1664-8T>C
NM_015374.3(SUN2):c.1677C>T (p.Ile559=) rs1318955450
NM_015374.3(SUN2):c.1734C>A (p.Gly578=)
NM_015374.3(SUN2):c.1779+17C>A
NM_015374.3(SUN2):c.1830C>T (p.Phe610=)
NM_015374.3(SUN2):c.1947+7A>G rs1569294585
NM_015374.3(SUN2):c.2040+19C>G
NM_015374.3(SUN2):c.2041-16T>C
NM_015374.3(SUN2):c.2043C>A (p.Ala681=) rs751159582
NM_015374.3(SUN2):c.2043C>G (p.Ala681=)
NM_015374.3(SUN2):c.2074C>T (p.Leu692=) rs1603210228
NM_015374.3(SUN2):c.2145C>T (p.Pro715=)
NM_015374.3(SUN2):c.247A>C (p.Arg83=) rs1474913633
NM_015374.3(SUN2):c.252C>T (p.Ser84=)
NM_015374.3(SUN2):c.286+12G>T rs2146081428
NM_015374.3(SUN2):c.286+19G>A
NM_015374.3(SUN2):c.287-17G>C
NM_015374.3(SUN2):c.287-7T>C rs1603230014
NM_015374.3(SUN2):c.306G>A (p.Arg102=)
NM_015374.3(SUN2):c.321G>A (p.Thr107=)
NM_015374.3(SUN2):c.348C>T (p.Ser116=)
NM_015374.3(SUN2):c.405C>T (p.Ser135=)
NM_015374.3(SUN2):c.450T>C (p.Ser150=)
NM_015374.3(SUN2):c.486G>A (p.Ala162=)
NM_015374.3(SUN2):c.520+14C>T
NM_015374.3(SUN2):c.520+18C>G
NM_015374.3(SUN2):c.521-20C>T
NM_015374.3(SUN2):c.561C>G (p.Thr187=) rs775025047
NM_015374.3(SUN2):c.567C>T (p.Tyr189=)
NM_015374.3(SUN2):c.614+14C>T
NM_015374.3(SUN2):c.614+18C>T
NM_015374.3(SUN2):c.628C>T (p.Leu210=)
NM_015374.3(SUN2):c.66C>T (p.Ser22=)
NM_015374.3(SUN2):c.686-13C>G
NM_015374.3(SUN2):c.705C>T (p.Pro235=)
NM_015374.3(SUN2):c.753G>A (p.Ala251=)
NM_015374.3(SUN2):c.771G>A (p.Pro257=)
NM_015374.3(SUN2):c.78G>A (p.Ser26=) rs757655044
NM_015374.3(SUN2):c.801G>A (p.Ser267=)
NM_015374.3(SUN2):c.814-17T>G
NM_015374.3(SUN2):c.915G>A (p.Leu305=) rs1189059505
NM_015374.3(SUN2):c.924G>C (p.Leu308=)
NM_015374.3(SUN2):c.993G>A (p.Leu331=)
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_182914.3(SYNE2):c.15290TTC[1] (p.Leu5098del) rs368230785
NM_182961.4(SYNE1):c.17203-7_17203-6del rs55633181

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