ClinVar Miner

List of variants in gene SEMA3E studied for CHARGE syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 508
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HGVS dbSNP gnomAD frequency
NM_012431.3(SEMA3E):c.1143+41A>G rs2709930 0.97100
NM_012431.3(SEMA3E):c.550+40G>A rs2713145 0.52350
NM_012431.3(SEMA3E):c.998+12A>T rs2245441 0.51207
NM_012431.3(SEMA3E):c.603G>T (p.Ala201=) rs2722985 0.49353
NM_012431.3(SEMA3E):c.671-47A>T rs2709941 0.49328
NM_012431.3(SEMA3E):c.276+3966C>G rs2255715 0.45623
NM_012431.3(SEMA3E):c.1272G>A (p.Leu424=) rs2722974 0.35335
NM_012431.3(SEMA3E):c.337-38T>C rs7806439 0.34425
NM_012431.3(SEMA3E):c.623G>C (p.Arg208Pro) rs61729612 0.11028
NM_012431.3(SEMA3E):c.2211A>G (p.Arg737=) rs2371545 0.07602
NM_012431.3(SEMA3E):c.1566T>C (p.Tyr522=) rs61636768 0.03837
NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val) rs61729610 0.02589
NM_012431.3(SEMA3E):c.900T>C (p.Asn300=) rs28505908 0.01156
NM_012431.3(SEMA3E):c.1722A>T (p.Gly574=) rs61729608 0.00518
NM_012431.3(SEMA3E):c.2283C>T (p.Ser761=) rs80079143 0.00465
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile) rs142204796 0.00396
NM_012431.3(SEMA3E):c.951C>G (p.Thr317=) rs201663991 0.00080
NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu) rs192697566 0.00069
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) rs186628513 0.00056
NM_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg) rs181129823 0.00035
NM_012431.3(SEMA3E):c.15G>A (p.Gly5=) rs140094033 0.00035
NM_012431.3(SEMA3E):c.2048A>G (p.Asn683Ser) rs144370841 0.00029
NM_012431.3(SEMA3E):c.999-12T>C rs373951907 0.00029
NM_012431.3(SEMA3E):c.1522G>A (p.Ala508Thr) rs758060734 0.00024
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=) rs757610572 0.00016
NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile) rs200779956 0.00016
NM_012431.3(SEMA3E):c.1855C>T (p.Arg619Cys) rs143631464 0.00015
NM_012431.3(SEMA3E):c.1348G>A (p.Val450Ile) rs190791287 0.00014
NM_012431.3(SEMA3E):c.1892G>A (p.Arg631Lys) rs553630404 0.00014
NM_012431.3(SEMA3E):c.155C>G (p.Pro52Arg) rs370543242 0.00013
NM_012431.3(SEMA3E):c.1668-16A>G rs371322188 0.00013
NM_012431.3(SEMA3E):c.1738G>A (p.Asp580Asn) rs201699077 0.00011
NM_012431.3(SEMA3E):c.1739A>G (p.Asp580Gly) rs754158945 0.00010
NM_012431.3(SEMA3E):c.2152G>A (p.Gly718Ser) rs148649507 0.00010
NM_012431.3(SEMA3E):c.1366+11G>A rs369202554 0.00009
NM_012431.3(SEMA3E):c.511C>T (p.Pro171Ser) rs145249878 0.00009
NM_012431.3(SEMA3E):c.651C>T (p.Asp217=) rs766680673 0.00009
NM_012431.3(SEMA3E):c.1290A>T (p.Lys430Asn) rs61729605 0.00008
NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn) rs768818178 0.00008
NM_012431.3(SEMA3E):c.615C>T (p.Ser205=) rs758229846 0.00008
NM_012431.3(SEMA3E):c.671-10G>A rs372840645 0.00007
NM_012431.3(SEMA3E):c.1076A>G (p.His359Arg) rs373965521 0.00006
NM_012431.3(SEMA3E):c.1366+10C>T rs144608744 0.00006
NM_012431.3(SEMA3E):c.1498C>A (p.Arg500=) rs111300014 0.00006
NM_012431.3(SEMA3E):c.1856G>A (p.Arg619His) rs140160399 0.00006
NM_012431.3(SEMA3E):c.264C>T (p.Asp88=) rs142305186 0.00006
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu) rs142392597 0.00006
NM_012431.3(SEMA3E):c.999-16T>C rs376833826 0.00006
NM_012431.3(SEMA3E):c.167T>C (p.Leu56Pro) rs375067711 0.00005
NM_012431.3(SEMA3E):c.196T>C (p.Tyr66His) rs558904762 0.00005
NM_012431.3(SEMA3E):c.814-11G>T rs781715218 0.00005
NM_012431.3(SEMA3E):c.949A>T (p.Thr317Ser) rs752718717 0.00005
NM_012431.3(SEMA3E):c.998+10T>C rs769133097 0.00005
NM_012431.3(SEMA3E):c.1017T>A (p.His339Gln) rs746431820 0.00004
NM_012431.3(SEMA3E):c.1043G>A (p.Ser348Asn) rs1293541067 0.00004
NM_012431.3(SEMA3E):c.1048C>T (p.Arg350Trp) rs546414937 0.00004
NM_012431.3(SEMA3E):c.1081G>A (p.Glu361Lys) rs754754690 0.00004
NM_012431.3(SEMA3E):c.1147G>T (p.Ala383Ser) rs373711827 0.00004
NM_012431.3(SEMA3E):c.1173C>T (p.Tyr391=) rs370540865 0.00004
NM_012431.3(SEMA3E):c.1239G>A (p.Gln413=) rs776317078 0.00004
NM_012431.3(SEMA3E):c.1500G>T (p.Arg500=) rs767115234 0.00004
NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln) rs769248913 0.00004
NM_012431.3(SEMA3E):c.1827G>A (p.Ala609=) rs756346342 0.00004
NM_012431.3(SEMA3E):c.186G>T (p.Leu62=) rs148264760 0.00004
NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val) rs771976054 0.00004
NM_012431.3(SEMA3E):c.213C>T (p.Phe71=) rs146189665 0.00004
NM_012431.3(SEMA3E):c.2279G>A (p.Arg760His) rs143423970 0.00004
NM_012431.3(SEMA3E):c.322A>C (p.Lys108Gln) rs201465097 0.00004
NM_012431.3(SEMA3E):c.355G>C (p.Val119Leu) rs145267516 0.00004
NM_012431.3(SEMA3E):c.5C>G (p.Ala2Gly) rs763295904 0.00004
NM_012431.3(SEMA3E):c.814-10G>T rs1053672541 0.00004
NM_012431.3(SEMA3E):c.1667+7C>T rs757094477 0.00003
NM_012431.3(SEMA3E):c.1944T>C (p.Asp648=) rs199840463 0.00003
NM_012431.3(SEMA3E):c.2054A>G (p.Asp685Gly) rs747326285 0.00003
NM_012431.3(SEMA3E):c.2108C>T (p.Ser703Leu) rs121918341 0.00003
NM_012431.3(SEMA3E):c.2316G>A (p.Thr772=) rs753767962 0.00003
NM_012431.3(SEMA3E):c.339T>C (p.Gly113=) rs564120268 0.00003
NM_012431.3(SEMA3E):c.359G>A (p.Arg120Gln) rs781381659 0.00003
NM_012431.3(SEMA3E):c.551-6G>A rs535143722 0.00003
NM_012431.3(SEMA3E):c.754G>T (p.Ala252Ser) rs779163443 0.00003
NM_012431.3(SEMA3E):c.94C>T (p.Arg32Trp) rs774777538 0.00003
NM_012431.3(SEMA3E):c.1084G>A (p.Gly362Arg) rs751565672 0.00002
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe) rs753965043 0.00002
NM_012431.3(SEMA3E):c.1303C>G (p.Gln435Glu) rs752774852 0.00002
NM_012431.3(SEMA3E):c.1320A>G (p.Arg440=) rs750937375 0.00002
NM_012431.3(SEMA3E):c.1383G>T (p.Leu461=) rs139043841 0.00002
NM_012431.3(SEMA3E):c.1413G>A (p.Met471Ile) rs752959572 0.00002
NM_012431.3(SEMA3E):c.1500+5G>A rs201772961 0.00002
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=) rs574901886 0.00002
NM_012431.3(SEMA3E):c.1997G>A (p.Arg666His) rs779454555 0.00002
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys) rs538244011 0.00002
NM_012431.3(SEMA3E):c.2320G>T (p.Asp774Tyr) rs767621375 0.00002
NM_012431.3(SEMA3E):c.266G>A (p.Gly89Asp) rs773688938 0.00002
NM_012431.3(SEMA3E):c.267C>T (p.Gly89=) rs375209449 0.00002
NM_012431.3(SEMA3E):c.335C>T (p.Ala112Val) rs780025635 0.00002
NM_012431.3(SEMA3E):c.446A>G (p.Tyr149Cys) rs775302619 0.00002
NM_012431.3(SEMA3E):c.659G>A (p.Arg220His) rs150833995 0.00002
NM_012431.3(SEMA3E):c.671-19C>A rs375797663 0.00002
NM_012431.3(SEMA3E):c.796G>A (p.Val266Ile) rs762866887 0.00002
NM_012431.3(SEMA3E):c.798C>T (p.Val266=) rs1475070881 0.00002
NM_012431.3(SEMA3E):c.929-10A>G rs1032615953 0.00002
NM_012431.3(SEMA3E):c.1049G>A (p.Arg350Gln) rs748722795 0.00001
NM_012431.3(SEMA3E):c.1053A>G (p.Ala351=) rs1208777030 0.00001
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp) rs1378507372 0.00001
NM_012431.3(SEMA3E):c.1144T>C (p.Cys382Arg) rs200162096 0.00001
NM_012431.3(SEMA3E):c.116-15C>T rs745461858 0.00001
NM_012431.3(SEMA3E):c.1198G>T (p.Asp400Tyr) rs766917020 0.00001
NM_012431.3(SEMA3E):c.1214C>T (p.Ala405Val) rs1390797360 0.00001
NM_012431.3(SEMA3E):c.1221T>C (p.Ser407=) rs1435041618 0.00001
NM_012431.3(SEMA3E):c.122T>C (p.Leu41Ser) rs778519947 0.00001
NM_012431.3(SEMA3E):c.1313T>C (p.Val438Ala) rs755186079 0.00001
NM_012431.3(SEMA3E):c.1322T>C (p.Val441Ala) rs765714534 0.00001
NM_012431.3(SEMA3E):c.1337G>A (p.Gly446Asp) rs1788207145 0.00001
NM_012431.3(SEMA3E):c.1367-4A>G rs927631455 0.00001
NM_012431.3(SEMA3E):c.1429G>A (p.Val477Ile) rs1327334624 0.00001
NM_012431.3(SEMA3E):c.1443A>T (p.Glu481Asp) rs764562322 0.00001
NM_012431.3(SEMA3E):c.1480A>G (p.Met494Val) rs145819479 0.00001
NM_012431.3(SEMA3E):c.149A>G (p.His50Arg) rs777818746 0.00001
NM_012431.3(SEMA3E):c.1506G>T (p.Gln502His) rs1170846873 0.00001
NM_012431.3(SEMA3E):c.154C>A (p.Pro52Thr) rs1033262030 0.00001
NM_012431.3(SEMA3E):c.1667+3G>A rs778403800 0.00001
NM_012431.3(SEMA3E):c.1690C>T (p.Arg564Ter) rs1420638220 0.00001
NM_012431.3(SEMA3E):c.1754C>A (p.Thr585Asn) rs761147897 0.00001
NM_012431.3(SEMA3E):c.1876-11T>C rs542379432 0.00001
NM_012431.3(SEMA3E):c.1918C>T (p.Leu640Phe) rs1246755098 0.00001
NM_012431.3(SEMA3E):c.1959T>C (p.Phe653=) rs755163849 0.00001
NM_012431.3(SEMA3E):c.1977T>C (p.His659=) rs1451860370 0.00001
NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met) rs375536813 0.00001
NM_012431.3(SEMA3E):c.1992G>A (p.Thr664=) rs753319647 0.00001
NM_012431.3(SEMA3E):c.2034C>T (p.Val678=) rs146635766 0.00001
NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn) rs768606535 0.00001
NM_012431.3(SEMA3E):c.2057A>T (p.Asp686Val) rs371910815 0.00001
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=) rs765040215 0.00001
NM_012431.3(SEMA3E):c.233T>C (p.Val78Ala) rs765517064 0.00001
NM_012431.3(SEMA3E):c.237T>C (p.Tyr79=) rs1790350122 0.00001
NM_012431.3(SEMA3E):c.265G>A (p.Gly89Ser) rs759100269 0.00001
NM_012431.3(SEMA3E):c.276+19G>C rs186974190 0.00001
NM_012431.3(SEMA3E):c.321G>A (p.Met107Ile) rs1789839857 0.00001
NM_012431.3(SEMA3E):c.336G>A (p.Ala112=) rs770979660 0.00001
NM_012431.3(SEMA3E):c.378C>T (p.Asn126=) rs758897440 0.00001
NM_012431.3(SEMA3E):c.475G>C (p.Glu159Gln) rs1241693530 0.00001
NM_012431.3(SEMA3E):c.520C>T (p.Pro174Ser) rs1441322114 0.00001
NM_012431.3(SEMA3E):c.551-17C>T rs771573182 0.00001
NM_012431.3(SEMA3E):c.566C>T (p.Ala189Val) rs765052488 0.00001
NM_012431.3(SEMA3E):c.576C>T (p.Tyr192=) rs756263299 0.00001
NM_012431.3(SEMA3E):c.58T>C (p.Trp20Arg) rs963545974 0.00001
NM_012431.3(SEMA3E):c.597C>T (p.Asp199=) rs200688368 0.00001
NM_012431.3(SEMA3E):c.600T>G (p.Ala200=) rs773812106 0.00001
NM_012431.3(SEMA3E):c.616A>G (p.Met206Val) rs745626807 0.00001
NM_012431.3(SEMA3E):c.635T>C (p.Ile212Thr) rs1429112884 0.00001
NM_012431.3(SEMA3E):c.642T>G (p.Thr214=) rs1457393978 0.00001
NM_012431.3(SEMA3E):c.670+12G>A rs1383072223 0.00001
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=) rs143878781 0.00001
NM_012431.3(SEMA3E):c.802C>A (p.Arg268=) rs769859383 0.00001
NM_012431.3(SEMA3E):c.869C>T (p.Ala290Val) rs749567149 0.00001
NM_012431.3(SEMA3E):c.870G>A (p.Ala290=) rs756513699 0.00001
NM_012431.3(SEMA3E):c.999-10T>C rs371994521 0.00001
NM_012431.3(SEMA3E):c.999-3C>T rs566304903 0.00001
NM_012431.3(SEMA3E):c.999-9A>G rs776954864 0.00001
NC_000007.13:g.(?_82996902)_(82997374_?)dup
NC_000007.13:g.(?_83047686)_(83047819_?)dup
NC_000007.13:g.(?_83047686)_(83119610_?)dup
NC_000007.13:g.(?_83277724)_(83277858_?)del
NM_012431.3(SEMA3E):c.1009C>A (p.Arg337=) rs965528935
NM_012431.3(SEMA3E):c.1009C>T (p.Arg337Ter) rs965528935
NM_012431.3(SEMA3E):c.1010G>A (p.Arg337Gln)
NM_012431.3(SEMA3E):c.1021A>G (p.Ile341Val)
NM_012431.3(SEMA3E):c.1025G>A (p.Cys342Tyr)
NM_012431.3(SEMA3E):c.102C>T (p.Arg34=)
NM_012431.3(SEMA3E):c.1034A>G (p.His345Arg)
NM_012431.3(SEMA3E):c.1046T>C (p.Ile349Thr)
NM_012431.3(SEMA3E):c.1052C>T (p.Ala351Val)
NM_012431.3(SEMA3E):c.1062C>T (p.Asn354=)
NM_012431.3(SEMA3E):c.1076A>T (p.His359Leu) rs373965521
NM_012431.3(SEMA3E):c.1085G>A (p.Gly362Glu)
NM_012431.3(SEMA3E):c.108A>G (p.Ser36=)
NM_012431.3(SEMA3E):c.1099T>C (p.Trp367Arg)
NM_012431.3(SEMA3E):c.1120G>A (p.Val374Ile) rs1788253309
NM_012431.3(SEMA3E):c.1125T>G (p.Pro375=) rs2115627595
NM_012431.3(SEMA3E):c.112A>C (p.Lys38Gln)
NM_012431.3(SEMA3E):c.1131A>G (p.Pro377=)
NM_012431.3(SEMA3E):c.1138G>C (p.Gly380Arg)
NM_012431.3(SEMA3E):c.1143+15A>G
NM_012431.3(SEMA3E):c.1143+17A>G
NM_012431.3(SEMA3E):c.1144-12C>T
NM_012431.3(SEMA3E):c.1144-13A>G
NM_012431.3(SEMA3E):c.1144-15C>A
NM_012431.3(SEMA3E):c.1144-19_1144-15del rs755190119
NM_012431.3(SEMA3E):c.1144-7T>C rs1370491845
NM_012431.3(SEMA3E):c.1146T>C (p.Cys382=)
NM_012431.3(SEMA3E):c.115+4G>A
NM_012431.3(SEMA3E):c.1154A>G (p.Lys385Arg)
NM_012431.3(SEMA3E):c.116-10T>A rs1562804630
NM_012431.3(SEMA3E):c.116-16T>A rs771714740
NM_012431.3(SEMA3E):c.116-7A>T rs2115977179
NM_012431.3(SEMA3E):c.1171T>C (p.Tyr391His) rs2115617387
NM_012431.3(SEMA3E):c.1177A>T (p.Thr393Ser) rs1027331615
NM_012431.3(SEMA3E):c.1182C>G (p.Thr394=)
NM_012431.3(SEMA3E):c.1194T>C (p.Pro398=)
NM_012431.3(SEMA3E):c.11C>T (p.Ala4Val)
NM_012431.3(SEMA3E):c.1208G>A (p.Arg403Gln)
NM_012431.3(SEMA3E):c.1216A>G (p.Arg406Gly) rs1584221582
NM_012431.3(SEMA3E):c.1220G>A (p.Ser407Asn) rs769258588
NM_012431.3(SEMA3E):c.1233G>A (p.Met411Ile) rs2115616756
NM_012431.3(SEMA3E):c.123G>A (p.Leu41=) rs2115977130
NM_012431.3(SEMA3E):c.1240G>A (p.Ala414Thr)
NM_012431.3(SEMA3E):c.1243A>T (p.Ile415Leu) rs1180431769
NM_012431.3(SEMA3E):c.1251T>G (p.Pro417=) rs2115616642
NM_012431.3(SEMA3E):c.1259A>G (p.Lys420Arg)
NM_012431.3(SEMA3E):c.1260A>G (p.Lys420=)
NM_012431.3(SEMA3E):c.1264C>A (p.Pro422Thr)
NM_012431.3(SEMA3E):c.1269A>G (p.Ile423Met)
NM_012431.3(SEMA3E):c.1273G>A (p.Val425Ile)
NM_012431.3(SEMA3E):c.1295A>G (p.Asn432Ser)
NM_012431.3(SEMA3E):c.1296C>A (p.Asn432Lys) rs769637710
NM_012431.3(SEMA3E):c.1309G>A (p.Ala437Thr) rs781593656
NM_012431.3(SEMA3E):c.1319G>A (p.Arg440Gln)
NM_012431.3(SEMA3E):c.1324G>C (p.Glu442Gln)
NM_012431.3(SEMA3E):c.1341A>C (p.Gln447His)
NM_012431.3(SEMA3E):c.1341A>G (p.Gln447=) rs149235216
NM_012431.3(SEMA3E):c.1346A>T (p.Asp449Val) rs1788206837
NM_012431.3(SEMA3E):c.1347C>T (p.Asp449=) rs148072082
NM_012431.3(SEMA3E):c.1359T>C (p.Ile453=)
NM_012431.3(SEMA3E):c.1366+11G>T
NM_012431.3(SEMA3E):c.1366+1G>T
NM_012431.3(SEMA3E):c.1367-17GTTTT[3]
NM_012431.3(SEMA3E):c.1367-20C>T
NM_012431.3(SEMA3E):c.1367-7C>T rs2115601484
NM_012431.3(SEMA3E):c.1383G>A (p.Leu461=) rs139043841
NM_012431.3(SEMA3E):c.1390A>G (p.Ile464Val)
NM_012431.3(SEMA3E):c.1392C>T (p.Ile464=)
NM_012431.3(SEMA3E):c.1393A>C (p.Thr465Pro)
NM_012431.3(SEMA3E):c.1404C>G (p.Asn468Lys)
NM_012431.3(SEMA3E):c.1405C>G (p.Gln469Glu)
NM_012431.3(SEMA3E):c.1411A>G (p.Met471Val) rs575712751
NM_012431.3(SEMA3E):c.1444C>A (p.Leu482Ile)
NM_012431.3(SEMA3E):c.1457A>T (p.Lys486Met) rs1788128084
NM_012431.3(SEMA3E):c.1458+11C>T
NM_012431.3(SEMA3E):c.1458+19A>G rs2115600702
NM_012431.3(SEMA3E):c.1458+1G>T
NM_012431.3(SEMA3E):c.1459-11del
NM_012431.3(SEMA3E):c.1459-11dup rs1788078377
NM_012431.3(SEMA3E):c.1459-12_1459-11del rs1788078377
NM_012431.3(SEMA3E):c.1459-17del rs2115589623
NM_012431.3(SEMA3E):c.1461T>C (p.Asp487=)
NM_012431.3(SEMA3E):c.1462C>G (p.Pro488Ala)
NM_012431.3(SEMA3E):c.1476T>A (p.Ile492=)
NM_012431.3(SEMA3E):c.1484A>C (p.Glu495Ala)
NM_012431.3(SEMA3E):c.1485G>A (p.Glu495=)
NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp) rs111300014
NM_012431.3(SEMA3E):c.1500+16G>A
NM_012431.3(SEMA3E):c.1500+6T>C
NM_012431.3(SEMA3E):c.1500G>A (p.Arg500=) rs767115234
NM_012431.3(SEMA3E):c.1506G>C (p.Gln502His)
NM_012431.3(SEMA3E):c.150T>C (p.His50=)
NM_012431.3(SEMA3E):c.1518A>C (p.Gly506=) rs1788042634
NM_012431.3(SEMA3E):c.1550A>G (p.His517Arg)
NM_012431.3(SEMA3E):c.1557T>C (p.Cys519=)
NM_012431.3(SEMA3E):c.1563G>A (p.Met521Ile)
NM_012431.3(SEMA3E):c.1565A>G (p.Tyr522Cys)
NM_012431.3(SEMA3E):c.157T>G (p.Phe53Val)
NM_012431.3(SEMA3E):c.15G>C (p.Gly5=)
NM_012431.3(SEMA3E):c.161G>A (p.Gly54Glu)
NM_012431.3(SEMA3E):c.1620T>C (p.Asp540=)
NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg) rs2115581814
NM_012431.3(SEMA3E):c.1636C>T (p.Arg546Trp)
NM_012431.3(SEMA3E):c.1657C>G (p.His553Asp)
NM_012431.3(SEMA3E):c.1667+8G>A
NM_012431.3(SEMA3E):c.1667+8G>T
NM_012431.3(SEMA3E):c.1668-10T>G rs1284168796
NM_012431.3(SEMA3E):c.1668-18G>T rs771755120
NM_012431.3(SEMA3E):c.1686T>C (p.Asp562=)
NM_012431.3(SEMA3E):c.1691G>A (p.Arg564Gln)
NM_012431.3(SEMA3E):c.1709A>T (p.Gln570Leu) rs1787895198
NM_012431.3(SEMA3E):c.1710G>A (p.Gln570=) rs1584209229
NM_012431.3(SEMA3E):c.1727A>C (p.Gln576Pro)
NM_012431.3(SEMA3E):c.1728G>A (p.Gln576=) rs2116918980
NM_012431.3(SEMA3E):c.1733T>C (p.Val578Ala) rs776901860
NM_012431.3(SEMA3E):c.1735+17C>T
NM_012431.3(SEMA3E):c.1736-13G>T rs1296337014
NM_012431.3(SEMA3E):c.1736-9C>T
NM_012431.3(SEMA3E):c.1736G>T (p.Gly579Val)
NM_012431.3(SEMA3E):c.1739A>T (p.Asp580Val) rs754158945
NM_012431.3(SEMA3E):c.1745T>C (p.Leu582Ser)
NM_012431.3(SEMA3E):c.1748A>G (p.Asp583Gly)
NM_012431.3(SEMA3E):c.1753A>G (p.Thr585Ala) rs1166890439
NM_012431.3(SEMA3E):c.1803A>C (p.Glu601Asp)
NM_012431.3(SEMA3E):c.1806T>C (p.Cys602=)
NM_012431.3(SEMA3E):c.1811C>T (p.Pro604Leu)
NM_012431.3(SEMA3E):c.1814G>A (p.Arg605Gln)
NM_012431.3(SEMA3E):c.1822C>T (p.Gln608Ter)
NM_012431.3(SEMA3E):c.1826C>A (p.Ala609Glu)
NM_012431.3(SEMA3E):c.1826C>G (p.Ala609Gly) rs778141353
NM_012431.3(SEMA3E):c.1828A>C (p.Lys610Gln)
NM_012431.3(SEMA3E):c.1831G>A (p.Val611Ile)
NM_012431.3(SEMA3E):c.1834A>G (p.Ile612Val)
NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe) rs560983031
NM_012431.3(SEMA3E):c.1834del (p.Ile612fs)
NM_012431.3(SEMA3E):c.1850A>G (p.Lys617Arg)
NM_012431.3(SEMA3E):c.1857T>G (p.Arg619=)
NM_012431.3(SEMA3E):c.1861A>G (p.Thr621Ala)
NM_012431.3(SEMA3E):c.1862C>A (p.Thr621Lys)
NM_012431.3(SEMA3E):c.1875+15C>A rs1325542892
NM_012431.3(SEMA3E):c.1875+17T>G
NM_012431.3(SEMA3E):c.1875+19T>C
NM_012431.3(SEMA3E):c.1875+20T>G
NM_012431.3(SEMA3E):c.1876-14T>A rs891019060
NM_012431.3(SEMA3E):c.1876-4G>T rs1321372061
NM_012431.3(SEMA3E):c.1876-5T>C rs1794699166
NM_012431.3(SEMA3E):c.1876-8T>C
NM_012431.3(SEMA3E):c.1876G>A (p.Val626Met) rs2116892550
NM_012431.3(SEMA3E):c.1885G>T (p.Asp629Tyr)
NM_012431.3(SEMA3E):c.1887T>A (p.Asp629Glu)
NM_012431.3(SEMA3E):c.1890C>T (p.Asp630=)
NM_012431.3(SEMA3E):c.1893A>C (p.Arg631Ser) rs900496407
NM_012431.3(SEMA3E):c.1900A>C (p.Lys634Gln) rs1421745476
NM_012431.3(SEMA3E):c.1905G>A (p.Met635Ile) rs1794698535
NM_012431.3(SEMA3E):c.1914T>A (p.Gly638=) rs1794698394
NM_012431.3(SEMA3E):c.1929G>C (p.Arg643Ser)
NM_012431.3(SEMA3E):c.1932A>G (p.Leu644=)
NM_012431.3(SEMA3E):c.1939T>G (p.Ser647Ala) rs2116892427
NM_012431.3(SEMA3E):c.1953C>T (p.Thr651=)
NM_012431.3(SEMA3E):c.1967C>T (p.Thr656Ile)
NM_012431.3(SEMA3E):c.1970T>C (p.Val657Ala)
NM_012431.3(SEMA3E):c.1992G>T (p.Thr664=)
NM_012431.3(SEMA3E):c.2004C>T (p.Ile668=)
NM_012431.3(SEMA3E):c.2006C>T (p.Thr669Ile)
NM_012431.3(SEMA3E):c.2008T>C (p.Leu670=)
NM_012431.3(SEMA3E):c.2013G>A (p.Glu671=)
NM_012431.3(SEMA3E):c.2027A>G (p.Glu676Gly) rs775000046
NM_012431.3(SEMA3E):c.202G>A (p.Glu68Lys)
NM_012431.3(SEMA3E):c.2035G>A (p.Glu679Lys)
NM_012431.3(SEMA3E):c.2055C>T (p.Asp685=)
NM_012431.3(SEMA3E):c.2070G>A (p.Arg690=) rs757700378
NM_012431.3(SEMA3E):c.2075A>G (p.His692Arg)
NM_012431.3(SEMA3E):c.2079G>A (p.Arg693=)
NM_012431.3(SEMA3E):c.2106C>G (p.Ile702Met) rs2116892082
NM_012431.3(SEMA3E):c.2109G>A (p.Ser703=)
NM_012431.3(SEMA3E):c.214G>T (p.Val72Leu) rs371960755
NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=) rs375211355
NM_012431.3(SEMA3E):c.2155T>G (p.Tyr719Asp) rs879255398
NM_012431.3(SEMA3E):c.2159G>C (p.Ser720Thr) rs372156795
NM_012431.3(SEMA3E):c.2187C>T (p.Cys729=)
NM_012431.3(SEMA3E):c.2188G>T (p.Glu730Ter) rs752107396
NM_012431.3(SEMA3E):c.2193A>G (p.Lys731=) rs2116891865
NM_012431.3(SEMA3E):c.2199G>T (p.Trp733Cys)
NM_012431.3(SEMA3E):c.2201G>C (p.Cys734Ser)
NM_012431.3(SEMA3E):c.2208T>G (p.Asp736Glu) rs200621696
NM_012431.3(SEMA3E):c.2212_2215del (p.Lys738fs)
NM_012431.3(SEMA3E):c.2216G>A (p.Arg739Lys) rs750426538
NM_012431.3(SEMA3E):c.2224C>A (p.Leu742Ile)
NM_012431.3(SEMA3E):c.2234C>T (p.Ser745Leu) rs2116891755
NM_012431.3(SEMA3E):c.2239T>A (p.Ser747Thr)
NM_012431.3(SEMA3E):c.223A>G (p.Arg75Gly)
NM_012431.3(SEMA3E):c.2253T>C (p.Tyr751=)
NM_012431.3(SEMA3E):c.2282C>G (p.Ser761Cys)
NM_012431.3(SEMA3E):c.228C>A (p.Asp76Glu)
NM_012431.3(SEMA3E):c.229C>T (p.Leu77Phe)
NM_012431.3(SEMA3E):c.2300G>T (p.Arg767Leu)
NM_012431.3(SEMA3E):c.2302C>T (p.Leu768=) rs2116891596
NM_012431.3(SEMA3E):c.2303dup (p.Pro769fs) rs2116891594
NM_012431.3(SEMA3E):c.2307C>T (p.Pro769=) rs1199344717
NM_012431.3(SEMA3E):c.2315C>T (p.Thr772Met)
NM_012431.3(SEMA3E):c.249G>T (p.Leu83Phe) rs2115976438
NM_012431.3(SEMA3E):c.25A>G (p.Thr9Ala)
NM_012431.3(SEMA3E):c.265G>C (p.Gly89Arg)
NM_012431.3(SEMA3E):c.266G>C (p.Gly89Ala)
NM_012431.3(SEMA3E):c.276+10T>C
NM_012431.3(SEMA3E):c.277-13_277-2dup
NM_012431.3(SEMA3E):c.277A>T (p.Ile93Leu)
NM_012431.3(SEMA3E):c.281A>G (p.His94Arg)
NM_012431.3(SEMA3E):c.287C>A (p.Pro96Gln)
NM_012431.3(SEMA3E):c.287C>T (p.Pro96Leu)
NM_012431.3(SEMA3E):c.288G>C (p.Pro96=)
NM_012431.3(SEMA3E):c.289A>T (p.Ser97Cys) rs1445294085
NM_012431.3(SEMA3E):c.306G>A (p.Met102Ile)
NM_012431.3(SEMA3E):c.30G>A (p.Leu10=)
NM_012431.3(SEMA3E):c.316A>G (p.Ile106Val)
NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys) rs1429296509
NM_012431.3(SEMA3E):c.335C>A (p.Ala112Glu)
NM_012431.3(SEMA3E):c.336+14A>G
NM_012431.3(SEMA3E):c.336+15T>C
NM_012431.3(SEMA3E):c.337-11del rs536827692
NM_012431.3(SEMA3E):c.337-11dup rs536827692
NM_012431.3(SEMA3E):c.337-18C>G
NM_012431.3(SEMA3E):c.337-1G>C rs1311561381
NM_012431.3(SEMA3E):c.337-9C>T rs1352755933
NM_012431.3(SEMA3E):c.344G>A (p.Cys115Tyr) rs2115880845
NM_012431.3(SEMA3E):c.352T>C (p.Tyr118His) rs1419581021
NM_012431.3(SEMA3E):c.358C>T (p.Arg120Trp)
NM_012431.3(SEMA3E):c.371A>G (p.His124Arg) rs1487949587
NM_012431.3(SEMA3E):c.37T>C (p.Trp13Arg)
NM_012431.3(SEMA3E):c.383C>A (p.Thr128Lys)
NM_012431.3(SEMA3E):c.387_388insAATAAAAACAATGCTTAAAACAACCTTGTTCTCAAAGAAAGACTACAGCATTT (p.Leu130delinsAsnLysAsnAsnAlaTer)
NM_012431.3(SEMA3E):c.396C>G (p.Thr132=) rs1584267738
NM_012431.3(SEMA3E):c.39G>A (p.Trp13Ter)
NM_012431.3(SEMA3E):c.414T>C (p.Phe138=)
NM_012431.3(SEMA3E):c.41G>T (p.Gly14Val)
NM_012431.3(SEMA3E):c.433A>G (p.Ile145Val)
NM_012431.3(SEMA3E):c.439G>T (p.Val147Phe)
NM_012431.3(SEMA3E):c.445T>C (p.Tyr149His) rs1789759218
NM_012431.3(SEMA3E):c.447T>A (p.Tyr149Ter) rs1789759019
NM_012431.3(SEMA3E):c.456+11T>A
NM_012431.3(SEMA3E):c.456+5G>A
NM_012431.3(SEMA3E):c.461C>T (p.Pro154Leu)
NM_012431.3(SEMA3E):c.482C>A (p.Pro161His)
NM_012431.3(SEMA3E):c.494G>A (p.Arg165Lys)
NM_012431.3(SEMA3E):c.508T>A (p.Cys170Ser)
NM_012431.3(SEMA3E):c.517G>T (p.Asp173Tyr) rs1562773446
NM_012431.3(SEMA3E):c.531C>T (p.Ser177=)
NM_012431.3(SEMA3E):c.532T>G (p.Phe178Val)
NM_012431.3(SEMA3E):c.535A>G (p.Ile179Val)
NM_012431.3(SEMA3E):c.537C>T (p.Ile179=) rs944160895
NM_012431.3(SEMA3E):c.550+14C>T
NM_012431.3(SEMA3E):c.550+17C>T
NM_012431.3(SEMA3E):c.550+5T>C
NM_012431.3(SEMA3E):c.550+6T>A rs1788600213
NM_012431.3(SEMA3E):c.551-11C>T
NM_012431.3(SEMA3E):c.551-14A>G
NM_012431.3(SEMA3E):c.551-14A>T
NM_012431.3(SEMA3E):c.551-18A>G rs774812464
NM_012431.3(SEMA3E):c.551-19del
NM_012431.3(SEMA3E):c.551-3T>G rs1351334262
NM_012431.3(SEMA3E):c.551-4G>A rs1788369989
NM_012431.3(SEMA3E):c.553A>G (p.Ser185Gly)
NM_012431.3(SEMA3E):c.555T>C (p.Ser185=)
NM_012431.3(SEMA3E):c.56T>G (p.Leu19Arg)
NM_012431.3(SEMA3E):c.570A>T (p.Gly190=) rs1788369340
NM_012431.3(SEMA3E):c.590G>A (p.Ser197Asn)
NM_012431.3(SEMA3E):c.5C>T (p.Ala2Val)
NM_012431.3(SEMA3E):c.603_604delinsTG (p.Ile202Val) rs2115654865
NM_012431.3(SEMA3E):c.603_604inv (p.Ile202Leu)
NM_012431.3(SEMA3E):c.609C>T (p.Phe203=)
NM_012431.3(SEMA3E):c.611G>A (p.Arg204His)
NM_012431.3(SEMA3E):c.612C>T (p.Arg204=) rs2115654801
NM_012431.3(SEMA3E):c.621del (p.Arg208fs) rs2115654665
NM_012431.3(SEMA3E):c.630C>T (p.Ala210=)
NM_012431.3(SEMA3E):c.638G>A (p.Arg213His)
NM_012431.3(SEMA3E):c.646C>T (p.His216Tyr)
NM_012431.3(SEMA3E):c.649G>A (p.Asp217Asn)
NM_012431.3(SEMA3E):c.657G>A (p.Glu219=)
NM_012431.3(SEMA3E):c.658C>T (p.Arg220Cys)
NM_012431.3(SEMA3E):c.670+11G>A
NM_012431.3(SEMA3E):c.670+20T>C
NM_012431.3(SEMA3E):c.670+8T>A
NM_012431.3(SEMA3E):c.671-16T>C
NM_012431.3(SEMA3E):c.671-19C>T rs375797663
NM_012431.3(SEMA3E):c.671-1G>C
NM_012431.3(SEMA3E):c.671-2A>G
NM_012431.3(SEMA3E):c.671-7C>T rs1255502131
NM_012431.3(SEMA3E):c.693C>T (p.Tyr231=) rs2115649282
NM_012431.3(SEMA3E):c.707A>G (p.Asn236Ser)
NM_012431.3(SEMA3E):c.707A>T (p.Asn236Ile)
NM_012431.3(SEMA3E):c.708T>C (p.Asn236=)
NM_012431.3(SEMA3E):c.713A>G (p.Asp238Gly) rs1554320716
NM_012431.3(SEMA3E):c.716G>C (p.Arg239Thr) rs1295531534
NM_012431.3(SEMA3E):c.718G>T (p.Asp240Tyr) rs777910966
NM_012431.3(SEMA3E):c.726C>T (p.Asn242=)
NM_012431.3(SEMA3E):c.732A>G (p.Val244=)
NM_012431.3(SEMA3E):c.733T>G (p.Tyr245Asp) rs2115649014
NM_012431.3(SEMA3E):c.758T>C (p.Leu253Pro)
NM_012431.3(SEMA3E):c.760G>C (p.Glu254Gln)
NM_012431.3(SEMA3E):c.780C>T (p.His260=) rs533306215
NM_012431.3(SEMA3E):c.781G>A (p.Ala261Thr) rs773917768
NM_012431.3(SEMA3E):c.781G>C (p.Ala261Pro)
NM_012431.3(SEMA3E):c.789C>T (p.Tyr263=) rs1467250504
NM_012431.3(SEMA3E):c.793A>G (p.Arg265Gly) rs2115648631
NM_012431.3(SEMA3E):c.795G>T (p.Arg265Ser) rs2115648620
NM_012431.3(SEMA3E):c.799G>A (p.Gly267Arg)
NM_012431.3(SEMA3E):c.802C>T (p.Arg268Ter)
NM_012431.3(SEMA3E):c.803G>A (p.Arg268Gln)
NM_012431.3(SEMA3E):c.807C>T (p.Leu269=)
NM_012431.3(SEMA3E):c.809G>C (p.Cys270Ser)
NM_012431.3(SEMA3E):c.813+10TC[3]
NM_012431.3(SEMA3E):c.813+20_813+22del
NM_012431.3(SEMA3E):c.813+6G>A
NM_012431.3(SEMA3E):c.814-18C>G rs1027659475
NM_012431.3(SEMA3E):c.814-20C>T
NM_012431.3(SEMA3E):c.814-9T>C rs1562767558
NM_012431.3(SEMA3E):c.815A>G (p.Asn272Ser)
NM_012431.3(SEMA3E):c.816T>C (p.Asn272=)
NM_012431.3(SEMA3E):c.841G>A (p.Val281Met) rs2115643274
NM_012431.3(SEMA3E):c.84T>C (p.Thr28=)
NM_012431.3(SEMA3E):c.864A>G (p.Leu288=) rs1584226009
NM_012431.3(SEMA3E):c.867A>G (p.Lys289=) rs2115643169
NM_012431.3(SEMA3E):c.868G>A (p.Ala290Thr)
NM_012431.3(SEMA3E):c.870G>T (p.Ala290=) rs756513699
NM_012431.3(SEMA3E):c.891A>G (p.Pro297=)
NM_012431.3(SEMA3E):c.901G>A (p.Gly301Arg)
NM_012431.3(SEMA3E):c.907G>A (p.Asp303Asn)
NM_012431.3(SEMA3E):c.907G>C (p.Asp303His)
NM_012431.3(SEMA3E):c.90C>T (p.His30=)
NM_012431.3(SEMA3E):c.928+10T>C
NM_012431.3(SEMA3E):c.928+12T>G
NM_012431.3(SEMA3E):c.930G>A (p.Glu310=) rs2115641011
NM_012431.3(SEMA3E):c.931G>A (p.Asp311Asn) rs1478459253
NM_012431.3(SEMA3E):c.955G>A (p.Asp319Asn) rs1788311567
NM_012431.3(SEMA3E):c.956A>G (p.Asp319Gly)
NM_012431.3(SEMA3E):c.957T>G (p.Asp319Glu) rs763045418
NM_012431.3(SEMA3E):c.960T>A (p.His320Gln)
NM_012431.3(SEMA3E):c.975dup (p.Phe326fs)
NM_012431.3(SEMA3E):c.988A>C (p.Asn330His)
NM_012431.3(SEMA3E):c.995C>G (p.Thr332Ser) rs1554320452
NM_012431.3(SEMA3E):c.998+15C>T
NM_012431.3(SEMA3E):c.998+9T>G
NM_012431.3(SEMA3E):c.999-12dup rs1418610753
NM_012431.3(SEMA3E):c.999-19T>C rs2115628543
NM_012431.3(SEMA3E):c.9C>A (p.Ser3=)

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