ClinVar Miner

List of variants studied for Multiple endocrine neoplasia, type 1 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 563
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HGVS dbSNP
NC_000011.9:g.(?_64570986)_(64572288_?)del
NC_000011.9:g.(?_64570986)_(64577604_?)del
NC_000011.9:g.(?_64571796)_(64578188_?)del
NC_000011.9:g.(?_64577131)_(64577587_?)del
NM_000244.3(MEN1):c.-22C>A rs374749001
NM_000244.3(MEN1):c.-2C>T rs653534
NM_000244.3(MEN1):c.1003C>T (p.Arg335Cys) rs1565644005
NM_000244.3(MEN1):c.1004G>A (p.Arg335His) rs373135175
NM_000244.3(MEN1):c.1004G>C (p.Arg335Pro) rs373135175
NM_000244.3(MEN1):c.1004G>T (p.Arg335Leu) rs373135175
NM_000244.3(MEN1):c.1008C>T (p.Asn336=) rs370176253
NM_000244.3(MEN1):c.100C>A (p.Leu34Met) rs771554497
NM_000244.3(MEN1):c.100C>T (p.Leu34=) rs771554497
NM_000244.3(MEN1):c.1014T>C (p.Asn338=) rs763133775
NM_000244.3(MEN1):c.1018C>A (p.Arg340=) rs371364206
NM_000244.3(MEN1):c.1018C>T (p.Arg340Trp) rs371364206
NM_000244.3(MEN1):c.1019G>A (p.Arg340Gln) rs764998893
NM_000244.3(MEN1):c.1024G>C (p.Ala342Pro) rs2071312
NM_000244.3(MEN1):c.1027C>G (p.Leu343Val) rs759337318
NM_000244.3(MEN1):c.1035C>A (p.Ala345=) rs1060503796
NM_000244.3(MEN1):c.1037G>A (p.Trp346Ter) rs1114167482
NM_000244.3(MEN1):c.1039G>C (p.Ala347Pro) rs776561706
NM_000244.3(MEN1):c.1040C>T (p.Ala347Val) rs377715802
NM_000244.3(MEN1):c.1041G>A (p.Ala347=) rs878855184
NM_000244.3(MEN1):c.1044C>G (p.Asp348Glu) rs878855185
NM_000244.3(MEN1):c.1046C>T (p.Thr349Met) rs1259681826
NM_000244.3(MEN1):c.1047G>A (p.Thr349=) rs760183888
NM_000244.3(MEN1):c.1055T>A (p.Val352Asp)
NM_000244.3(MEN1):c.1064+1G>A rs1114167489
NM_000244.3(MEN1):c.1064+9C>A rs200517349
NM_000244.3(MEN1):c.1064+9C>G rs200517349
NM_000244.3(MEN1):c.1064+9C>T rs200517349
NM_000244.3(MEN1):c.1065-2A>G
NM_000244.3(MEN1):c.1065-2A>T rs1565642765
NM_000244.3(MEN1):c.1073A>C (p.Tyr358Ser)
NM_000244.3(MEN1):c.1075T>C (p.Cys359Arg) rs371503251
NM_000244.3(MEN1):c.1076G>A (p.Cys359Tyr) rs904261642
NM_000244.3(MEN1):c.1078C>A (p.Arg360=) rs863224807
NM_000244.3(MEN1):c.1078C>T (p.Arg360Trp) rs863224807
NM_000244.3(MEN1):c.1079G>A (p.Arg360Gln) rs1114167474
NM_000244.3(MEN1):c.1084G>A (p.Asp362Asn)
NM_000244.3(MEN1):c.1086C>T (p.Asp362=) rs371964966
NM_000244.3(MEN1):c.1087_1089GAG[1] (p.Glu364del) rs1060499971
NM_000244.3(MEN1):c.1089G>A (p.Glu363=) rs776834299
NM_000244.3(MEN1):c.108_122dup (p.Leu37_Leu41dup) rs1555166695
NM_000244.3(MEN1):c.1095C>T (p.Ile365=) rs147331514
NM_000244.3(MEN1):c.1098C>T (p.Tyr366=) rs1168237114
NM_000244.3(MEN1):c.1102_1104del (p.Glu368del) rs869025185
NM_000244.3(MEN1):c.1107C>A (p.Phe369Leu) rs863224808
NM_000244.3(MEN1):c.1108T>C (p.Phe370Leu)
NM_000244.3(MEN1):c.1113A>T (p.Glu371Asp) rs149383809
NM_000244.3(MEN1):c.1114G>A (p.Val372Ile) rs758404089
NM_000244.3(MEN1):c.1138C>G (p.Leu380Val) rs1211957325
NM_000244.3(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_000244.3(MEN1):c.1145A>G (p.Lys382Arg) rs766075737
NM_000244.3(MEN1):c.1146G>A (p.Lys382=) rs1555164674
NM_000244.3(MEN1):c.114C>G (p.Ser38=) rs1252317486
NM_000244.3(MEN1):c.1154C>G (p.Ala385Gly) rs1565642307
NM_000244.3(MEN1):c.115T>C (p.Leu39=) rs863224438
NM_000244.3(MEN1):c.1164G>A (p.Leu388=) rs1555164667
NM_000244.3(MEN1):c.1169C>T (p.Ala390Val) rs1298484645
NM_000244.3(MEN1):c.1170G>A (p.Ala390=) rs201091135
NM_000244.3(MEN1):c.1172G>A (p.Gly391Asp) rs761360623
NM_000244.3(MEN1):c.1173C>T (p.Gly391=) rs794728653
NM_000244.3(MEN1):c.1174G>A (p.Glu392Lys) rs773978650
NM_000244.3(MEN1):c.1180C>T (p.Arg394Trp) rs566593066
NM_000244.3(MEN1):c.1181G>A (p.Arg394Gln) rs775267651
NM_000244.3(MEN1):c.1181G>C (p.Arg394Pro)
NM_000244.3(MEN1):c.1182G>C (p.Arg394=) rs1194388602
NM_000244.3(MEN1):c.1184C>G (p.Pro395Arg) rs761102084
NM_000244.3(MEN1):c.1184C>T (p.Pro395Leu) rs761102084
NM_000244.3(MEN1):c.1185G>A (p.Pro395=) rs587780841
NM_000244.3(MEN1):c.1185G>C (p.Pro395=) rs587780841
NM_000244.3(MEN1):c.1189G>T (p.Glu397Ter) rs772588551
NM_000244.3(MEN1):c.1192C>G (p.Gln398Glu) rs1060499984
NM_000244.3(MEN1):c.1196G>C (p.Ser399Thr) rs934222398
NM_000244.3(MEN1):c.119_124del (p.Val40_Leu41del) rs386134248
NM_000244.3(MEN1):c.11A>C (p.Lys4Thr)
NM_000244.3(MEN1):c.1200+4A>G rs863224809
NM_000244.3(MEN1):c.1200+5A>G
NM_000244.3(MEN1):c.1201-6G>A rs576193460
NM_000244.3(MEN1):c.1201-7C>T rs587780842
NM_000244.3(MEN1):c.1201-8del rs1555164452
NM_000244.3(MEN1):c.1201-9C>T rs1555164455
NM_000244.3(MEN1):c.1206C>T (p.Thr402=) rs1166154585
NM_000244.3(MEN1):c.1208dup (p.Ser404fs) rs1555164430
NM_000244.3(MEN1):c.1209G>C (p.Gln403His)
NM_000244.3(MEN1):c.1217G>T (p.Gly406Val) rs878855186
NM_000244.3(MEN1):c.1218T>C (p.Gly406=) rs878855187
NM_000244.3(MEN1):c.1221C>A (p.Ser407=) rs770037856
NM_000244.3(MEN1):c.1221C>T (p.Ser407=) rs770037856
NM_000244.3(MEN1):c.1222G>A (p.Ala408Thr) rs746135199
NM_000244.3(MEN1):c.1225C>T (p.Leu409Phe) rs1060499989
NM_000244.3(MEN1):c.1227C>G (p.Leu409=) rs577268289
NM_000244.3(MEN1):c.1228C>T (p.Gln410Ter) rs864622615
NM_000244.3(MEN1):c.1234C>G (p.Pro412Ala) rs1060499985
NM_000244.3(MEN1):c.1234_1235del (p.Asp411_Pro412insTer)
NM_000244.3(MEN1):c.1235_1236del (p.Pro412fs)
NM_000244.3(MEN1):c.1239_1240insGTCC (p.Cys414fs) rs1114167524
NM_000244.3(MEN1):c.1241G>A (p.Cys414Tyr) rs1060499988
NM_000244.3(MEN1):c.1245C>T (p.Phe415=) rs878855188
NM_000244.3(MEN1):c.1246G>A (p.Ala416Thr) rs757179911
NM_000244.3(MEN1):c.1246G>T (p.Ala416Ser) rs757179911
NM_000244.3(MEN1):c.1258C>T (p.Arg420Ter) rs1060499974
NM_000244.3(MEN1):c.1259G>A (p.Arg420Gln) rs1446518998
NM_000244.3(MEN1):c.1259G>C (p.Arg420Pro) rs1446518998
NM_000244.3(MEN1):c.125G>C (p.Gly42Ala)
NM_000244.3(MEN1):c.1266C>T (p.Tyr422=) rs751481164
NM_000244.3(MEN1):c.1267G>A (p.Asp423Asn) rs104894264
NM_000244.3(MEN1):c.1268_1271del (p.Asp423fs)
NM_000244.3(MEN1):c.1269C>G (p.Asp423Glu)
NM_000244.3(MEN1):c.1269C>T (p.Asp423=) rs2071313
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
NM_000244.3(MEN1):c.1282T>C (p.Trp428Arg) rs1555164270
NM_000244.3(MEN1):c.1294A>C (p.Ser432Arg) rs1555164245
NM_000244.3(MEN1):c.129C>G (p.Phe43Leu)
NM_000244.3(MEN1):c.1302G>A (p.Thr434=) rs376598079
NM_000244.3(MEN1):c.1302G>T (p.Thr434=) rs376598079
NM_000244.3(MEN1):c.1311G>A (p.Leu437=) rs138770431
NM_000244.3(MEN1):c.1314C>T (p.His438=) rs540012
NM_000244.3(MEN1):c.1321T>A (p.Trp441Arg) rs104894259
NM_000244.3(MEN1):c.1323G>T (p.Trp441Cys) rs398124435
NM_000244.3(MEN1):c.1326del (p.Thr443fs)
NM_000244.3(MEN1):c.1329C>G (p.Thr443=) rs897481809
NM_000244.3(MEN1):c.132G>T (p.Val44=) rs1555166691
NM_000244.3(MEN1):c.1339C>T (p.Gln447Ter) rs794728654
NM_000244.3(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_000244.3(MEN1):c.1343C>A (p.Ser448Tyr) rs1060499981
NM_000244.3(MEN1):c.1348G>T (p.Gly450Cys) rs1555164153
NM_000244.3(MEN1):c.1349del (p.Gly450fs) rs1565640081
NM_000244.3(MEN1):c.134A>G (p.Glu45Gly)
NM_000244.3(MEN1):c.1351C>T (p.Arg451Cys)
NM_000244.3(MEN1):c.1352G>A (p.Arg451His) rs1555164143
NM_000244.3(MEN1):c.135G>C (p.Glu45Asp) rs778670301
NM_000244.3(MEN1):c.1365+1_1365+11del rs764570645
NM_000244.3(MEN1):c.1365+2T>C rs1555164115
NM_000244.3(MEN1):c.1365+4_1365+6del rs1565639798
NM_000244.3(MEN1):c.1365+5G>A rs1565639811
NM_000244.3(MEN1):c.1365+6G>A
NM_000244.3(MEN1):c.1366-10A>G rs757569943
NM_000244.3(MEN1):c.1366-1G>A rs794728629
NM_000244.3(MEN1):c.1366-1G>C rs794728629
NM_000244.3(MEN1):c.1366-2A>G rs1060499986
NM_000244.3(MEN1):c.1366-2_*132del rs1565634591
NM_000244.3(MEN1):c.1366-4C>T rs764408631
NM_000244.3(MEN1):c.1366-6G>A rs1555164004
NM_000244.3(MEN1):c.1366-8T>G rs751932519
NM_000244.3(MEN1):c.1366-9C>G
NM_000244.3(MEN1):c.1366_*820del (p.Val456fs)
NM_000244.3(MEN1):c.1369C>T (p.Arg457Trp) rs863224810
NM_000244.3(MEN1):c.1370G>A (p.Arg457Gln)
NM_000244.3(MEN1):c.1379T>A (p.Val460Glu) rs878855189
NM_000244.3(MEN1):c.1382G>A (p.Arg461His) rs372468697
NM_000244.3(MEN1):c.1390_1397del (p.Ser464fs) rs1555163883
NM_000244.3(MEN1):c.1393C>A (p.Arg465=) rs104894267
NM_000244.3(MEN1):c.1393C>T (p.Arg465Ter) rs104894267
NM_000244.3(MEN1):c.1394G>A (p.Arg465Gln) rs200035619
NM_000244.3(MEN1):c.1394G>C (p.Arg465Pro) rs200035619
NM_000244.3(MEN1):c.1397_1404dup (p.Ala469fs) rs1114167531
NM_000244.3(MEN1):c.1397_1419dup (p.Glu474fs) rs1555163780
NM_000244.3(MEN1):c.1401C>A (p.Ala467=) rs771827808
NM_000244.3(MEN1):c.1401C>G (p.Ala467=) rs771827808
NM_000244.3(MEN1):c.1401C>T (p.Ala467=) rs771827808
NM_000244.3(MEN1):c.1404G>C (p.Glu468Asp) rs1555163863
NM_000244.3(MEN1):c.1406C>T (p.Ala469Val) rs778728934
NM_000244.3(MEN1):c.1406_1411dup (p.Ala469_Ala470dup) rs1555163821
NM_000244.3(MEN1):c.1406_1420del (p.Ala469_Glu473del)
NM_000244.3(MEN1):c.1407G>A (p.Ala469=) rs754445482
NM_000244.3(MEN1):c.1408_1422del (p.Ala470_Glu474del) rs1064792907
NM_000244.3(MEN1):c.1409_1417dup (p.467_469AEA[3])
NM_000244.3(MEN1):c.1410C>T (p.Ala470=) rs748820252
NM_000244.3(MEN1):c.1412A>T (p.Glu471Val) rs1352053477
NM_000244.3(MEN1):c.1413G>T (p.Glu471Asp) rs990566024
NM_000244.3(MEN1):c.1414G>A (p.Ala472Thr) rs779589005
NM_000244.3(MEN1):c.1415_1428del (p.Ala472fs)
NM_000244.3(MEN1):c.1416C>T (p.Ala472=) rs878855190
NM_000244.3(MEN1):c.1419G>A (p.Glu473=) rs755734265
NM_000244.3(MEN1):c.1421_1428dup (p.Gly477fs) rs1114167536
NM_000244.3(MEN1):c.1422_1436del (p.Pro475_Glu479del) rs1033303123
NM_000244.3(MEN1):c.1424C>T (p.Pro475Leu) rs750112288
NM_000244.3(MEN1):c.1425G>A (p.Pro475=) rs1060503795
NM_000244.3(MEN1):c.1427G>A (p.Trp476Ter) rs1060499991
NM_000244.3(MEN1):c.142del (p.Leu48fs) rs1555166681
NM_000244.3(MEN1):c.1431C>T (p.Gly477=) rs764509990
NM_000244.3(MEN1):c.1435del (p.Glu479fs)
NM_000244.3(MEN1):c.1439_1447del (p.Ala480_Glu482del)
NM_000244.3(MEN1):c.1443G>C (p.Arg481=) rs1555163730
NM_000244.3(MEN1):c.1444G>C (p.Glu482Gln) rs863224526
NM_000244.3(MEN1):c.1444G>T (p.Glu482Ter) rs863224526
NM_000244.3(MEN1):c.1446A>T (p.Glu482Asp) rs863224811
NM_000244.3(MEN1):c.1449C>T (p.Gly483=) rs200280309
NM_000244.3(MEN1):c.1451G>C (p.Arg484Pro) rs1555163716
NM_000244.3(MEN1):c.1458G>A (p.Arg486=) rs864622641
NM_000244.3(MEN1):c.1468C>T (p.Arg490Trp) rs1254459338
NM_000244.3(MEN1):c.146C>T (p.Ala49Val) rs1555166674
NM_000244.3(MEN1):c.1473G>A (p.Glu491=) rs1413990417
NM_000244.3(MEN1):c.1474T>C (p.Ser492Pro) rs1057427859
NM_000244.3(MEN1):c.1480C>T (p.Pro494Ser) rs587778440
NM_000244.3(MEN1):c.1488G>A (p.Glu496=) rs1555163642
NM_000244.3(MEN1):c.1488del (p.Glu496fs) rs1555163646
NM_000244.3(MEN1):c.1493C>T (p.Pro498Leu) rs766604600
NM_000244.3(MEN1):c.1494G>A (p.Pro498=) rs546721780
NM_000244.3(MEN1):c.1496C>T (p.Pro499Leu) rs1060499993
NM_000244.3(MEN1):c.1497G>A (p.Pro499=) rs773363654
NM_000244.3(MEN1):c.1507C>G (p.Pro503Ala)
NM_000244.3(MEN1):c.1509A>T (p.Pro503=) rs1037335560
NM_000244.3(MEN1):c.1521G>C (p.Lys507Asn) rs774296730
NM_000244.3(MEN1):c.1523G>A (p.Gly508Asp) rs375804228
NM_000244.3(MEN1):c.1531A>C (p.Thr511Pro) rs1060499994
NM_000244.3(MEN1):c.1532C>T (p.Thr511Ile) rs1347992299
NM_000244.3(MEN1):c.1533C>T (p.Thr511=) rs749265222
NM_000244.3(MEN1):c.1534G>T (p.Gly512Cys) rs1423874145
NM_000244.3(MEN1):c.1537C>A (p.Gln513Lys) rs386833403
NM_000244.3(MEN1):c.153C>T (p.Asn51=) rs1555166669
NM_000244.3(MEN1):c.1541G>T (p.Gly514Val) rs769355346
NM_000244.3(MEN1):c.1550C>G (p.Ser517Ter) rs141679530
NM_000244.3(MEN1):c.1550C>T (p.Ser517Leu) rs141679530
NM_000244.3(MEN1):c.1555C>A (p.Pro519Thr) rs150202288
NM_000244.3(MEN1):c.1555C>T (p.Pro519Ser)
NM_000244.3(MEN1):c.1556C>G (p.Pro519Arg) rs753022747
NM_000244.3(MEN1):c.1556C>T (p.Pro519Leu) rs753022747
NM_000244.3(MEN1):c.1560C>A (p.Pro520=) rs1555163491
NM_000244.3(MEN1):c.1561C>G (p.Arg521Gly)
NM_000244.3(MEN1):c.1561del (p.Arg521fs) rs767319284
NM_000244.3(MEN1):c.1561dup (p.Arg521fs) rs767319284
NM_000244.3(MEN1):c.1562G>A (p.Arg521Gln)
NM_000244.3(MEN1):c.1567C>T (p.Pro523Ser)
NM_000244.3(MEN1):c.1576A>T (p.Thr526Ser) rs1565636917
NM_000244.3(MEN1):c.1577C>G (p.Thr526Ser)
NM_000244.3(MEN1):c.1577C>T (p.Thr526Ile) rs1565636898
NM_000244.3(MEN1):c.1579G>C (p.Val527Leu) rs1060499983
NM_000244.3(MEN1):c.1582G>A (p.Ala528Thr) rs760683615
NM_000244.3(MEN1):c.1582G>C (p.Ala528Pro) rs760683615
NM_000244.3(MEN1):c.1593C>A (p.Ala531=) rs767655504
NM_000244.3(MEN1):c.1594C>T (p.Arg532Ter) rs104894261
NM_000244.3(MEN1):c.1598G>A (p.Gly533Asp) rs1555163392
NM_000244.3(MEN1):c.15C>A (p.Ala5=) rs757821521
NM_000244.3(MEN1):c.1609G>T (p.Gly537Cys) rs587780843
NM_000244.3(MEN1):c.1623G>A (p.Gln541=) rs1055457298
NM_000244.3(MEN1):c.1625T>G (p.Val542Gly)
NM_000244.3(MEN1):c.162C>T (p.Ile54=) rs1555166662
NM_000244.3(MEN1):c.1633C>T (p.Pro545Ser) rs745404679
NM_000244.3(MEN1):c.1636G>A (p.Ala546Thr) rs2959656
NM_000244.3(MEN1):c.1636G>C (p.Ala546Pro)
NM_000244.3(MEN1):c.1643C>T (p.Ser548Leu)
NM_000244.3(MEN1):c.1648_1650CCG[3] (p.Pro551dup) rs774350463
NM_000244.3(MEN1):c.1650G>A (p.Pro550=) rs1349729840
NM_000244.3(MEN1):c.1652C>T (p.Pro551Leu) rs779413959
NM_000244.3(MEN1):c.1653G>A (p.Pro551=) rs368783097
NM_000244.3(MEN1):c.1655A>G (p.Glu552Gly) rs914488914
NM_000244.3(MEN1):c.1656G>A (p.Glu552=) rs1555163295
NM_000244.3(MEN1):c.165T>A (p.Pro55=) rs1060503790
NM_000244.3(MEN1):c.1663G>C (p.Val555Leu)
NM_000244.3(MEN1):c.1671T>C (p.Thr557=) rs143423552
NM_000244.3(MEN1):c.1675C>T (p.Gln559Ter) rs794728631
NM_000244.3(MEN1):c.1679G>A (p.Ser560Asn) rs863224527
NM_000244.3(MEN1):c.1685del (p.Lys562fs)
NM_000244.3(MEN1):c.1689dup (p.Lys564fs) rs1565635941
NM_000244.3(MEN1):c.168del (p.Asn57fs) rs1060499990
NM_000244.3(MEN1):c.16G>T (p.Ala6Ser) rs966793401
NM_000244.3(MEN1):c.1707G>T (p.Leu569=) rs367581776
NM_000244.3(MEN1):c.1710G>T (p.Leu570=) rs767677287
NM_000244.3(MEN1):c.1716C>T (p.Ala572=) rs757417271
NM_000244.3(MEN1):c.1754del (p.Thr585fs) rs864622617
NM_000244.3(MEN1):c.1755G>C (p.Thr585=) rs1114167530
NM_000244.3(MEN1):c.175C>G (p.Pro59Ala) rs1352823623
NM_000244.3(MEN1):c.1764G>C (p.Ser588=) rs765105348
NM_000244.3(MEN1):c.1769T>G (p.Val590Gly)
NM_000244.3(MEN1):c.176C>G (p.Pro59Arg)
NM_000244.3(MEN1):c.1773G>A (p.Gln591=) rs759563305
NM_000244.3(MEN1):c.1776G>A (p.Met592Ile) rs1555163058
NM_000244.3(MEN1):c.1777_1779AAG[1] (p.Lys594del) rs1303070443
NM_000244.3(MEN1):c.1779G>A (p.Lys593=) rs373669288
NM_000244.3(MEN1):c.177C>T (p.Pro59=) rs749001511
NM_000244.3(MEN1):c.1792T>C (p.Ser598Pro) rs1411766225
NM_000244.3(MEN1):c.1794C>T (p.Ser598=) rs1157546350
NM_000244.3(MEN1):c.1811_1812CT[1] (p.Leu605fs) rs1555163017
NM_000244.3(MEN1):c.1815G>T (p.Leu605=) rs148825200
NM_000244.3(MEN1):c.1821C>T (p.Phe607=) rs1060503794
NM_000244.3(MEN1):c.183C>A (p.Leu61=) rs1555166622
NM_000244.3(MEN1):c.1841G>T (p.Gly614Val) rs1186858249
NM_000244.3(MEN1):c.184A>C (p.Thr62Pro) rs1555166619
NM_000244.3(MEN1):c.188T>A (p.Phe63Tyr)
NM_000244.3(MEN1):c.189C>G (p.Phe63Leu) rs137880635
NM_000244.3(MEN1):c.18C>T (p.Ala6=) rs369348210
NM_000244.3(MEN1):c.191_195AGCCC[3] (p.Asp70fs) rs1555166609
NM_000244.3(MEN1):c.193C>A (p.Pro65Thr) rs1235900915
NM_000244.3(MEN1):c.195C>A (p.Pro65=) rs1438097332
NM_000244.3(MEN1):c.197_201GCCCC[3] (p.Asp70fs) rs730882136
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.1A>T (p.Met1Leu) rs386134250
NM_000244.3(MEN1):c.201C>T (p.Pro67=) rs1060503791
NM_000244.3(MEN1):c.202G>A (p.Ala68Thr) rs1343345477
NM_000244.3(MEN1):c.203C>T (p.Ala68Val) rs1319371332
NM_000244.3(MEN1):c.205C>T (p.Pro69Ser) rs1060499995
NM_000244.3(MEN1):c.208G>T (p.Asp70Tyr)
NM_000244.3(MEN1):c.210C>A (p.Asp70Glu) rs150308912
NM_000244.3(MEN1):c.211C>T (p.Pro71Ser)
NM_000244.3(MEN1):c.211_212del (p.Pro71fs) rs386134251
NM_000244.3(MEN1):c.215C>A (p.Pro72His)
NM_000244.3(MEN1):c.231C>G (p.Tyr77Ter) rs1555166567
NM_000244.3(MEN1):c.236C>G (p.Pro79Arg) rs1555166557
NM_000244.3(MEN1):c.236C>T (p.Pro79Leu)
NM_000244.3(MEN1):c.237del (p.Val80fs) rs1114167486
NM_000244.3(MEN1):c.240G>T (p.Val80=) rs1555166545
NM_000244.3(MEN1):c.244G>C (p.Asp82His) rs1419086083
NM_000244.3(MEN1):c.246C>G (p.Asp82Glu) rs1238113583
NM_000244.3(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_000244.3(MEN1):c.252_253insTT (p.Ile85fs) rs386134253
NM_000244.3(MEN1):c.266_286del (p.Leu89_Ala95del) rs1064792906
NM_000244.3(MEN1):c.267C>G (p.Leu89=) rs1060499972
NM_000244.3(MEN1):c.269A>G (p.Tyr90Cys) rs1565651873
NM_000244.3(MEN1):c.280_284dup (p.Gln96fs) rs1555166494
NM_000244.3(MEN1):c.281C>T (p.Thr94Ile) rs1565651820
NM_000244.3(MEN1):c.282C>T (p.Thr94=) rs760442763
NM_000244.3(MEN1):c.283G>T (p.Ala95Ser)
NM_000244.3(MEN1):c.293G>A (p.Arg98Gln)
NM_000244.3(MEN1):c.298G>T (p.Ala100Ser)
NM_000244.3(MEN1):c.299C>T (p.Ala100Val) rs998337367
NM_000244.3(MEN1):c.300C>G (p.Ala100=) rs773136972
NM_000244.3(MEN1):c.303C>T (p.Val101=) rs1463347315
NM_000244.3(MEN1):c.307C>T (p.Leu103=) rs1313314117
NM_000244.3(MEN1):c.307del (p.Leu103fs) rs794728639
NM_000244.3(MEN1):c.30G>T (p.Leu10=) rs371192390
NM_000244.3(MEN1):c.317A>G (p.Tyr106Cys) rs1555166469
NM_000244.3(MEN1):c.317_318del (p.Tyr106fs) rs1555166466
NM_000244.3(MEN1):c.318T>A (p.Tyr106Ter) rs1060499987
NM_000244.3(MEN1):c.322C>G (p.Arg108Gly)
NM_000244.3(MEN1):c.322C>T (p.Arg108Ter) rs794728647
NM_000244.3(MEN1):c.322_323insT (p.Arg108fs) rs1565651568
NM_000244.3(MEN1):c.323del (p.Arg108fs) rs878855191
NM_000244.3(MEN1):c.326A>G (p.Glu109Gly) rs1555166447
NM_000244.3(MEN1):c.327A>C (p.Glu109Asp) rs773976527
NM_000244.3(MEN1):c.330G>C (p.Gly110=) rs1060503792
NM_000244.3(MEN1):c.333T>C (p.Gly111=) rs1555166432
NM_000244.3(MEN1):c.339C>T (p.Ser113=) rs559635859
NM_000244.3(MEN1):c.343C>G (p.Arg115Gly) rs1565651402
NM_000244.3(MEN1):c.344G>A (p.Arg115His) rs1114167507
NM_000244.3(MEN1):c.345T>C (p.Arg115=) rs748948131
NM_000244.3(MEN1):c.346G>T (p.Glu116Ter) rs1060499992
NM_000244.3(MEN1):c.352G>A (p.Val118Met) rs1060499975
NM_000244.3(MEN1):c.355_357AAG[1] (p.Lys120del) rs794728657
NM_000244.3(MEN1):c.358A>T (p.Lys120Ter) rs878855192
NM_000244.3(MEN1):c.35C>T (p.Pro12Leu) rs794728614
NM_000244.3(MEN1):c.361G>A (p.Val121Ile) rs863224812
NM_000244.3(MEN1):c.361G>T (p.Val121Phe)
NM_000244.3(MEN1):c.366C>T (p.Ser122=)
NM_000244.3(MEN1):c.369T>C (p.Asp123=) rs1555166369
NM_000244.3(MEN1):c.375A>C (p.Ile125=) rs184896922
NM_000244.3(MEN1):c.375A>T (p.Ile125=) rs184896922
NM_000244.3(MEN1):c.378G>A (p.Trp126Ter) rs1555166365
NM_000244.3(MEN1):c.386del (p.Leu129fs) rs1565651223
NM_000244.3(MEN1):c.38T>C (p.Leu13Pro)
NM_000244.3(MEN1):c.38T>G (p.Leu13Arg) rs1262285748
NM_000244.3(MEN1):c.398A>G (p.Tyr133Cys) rs1555166357
NM_000244.3(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_000244.3(MEN1):c.402del (p.Phe134fs) rs397515385
NM_000244.3(MEN1):c.403A>C (p.Lys135Gln) rs121913034
NM_000244.3(MEN1):c.406_415delinsTCCCT (p.Asp136fs)
NM_000244.3(MEN1):c.40C>T (p.Arg14Cys)
NM_000244.3(MEN1):c.418A>T (p.Ile140Phe) rs376510601
NM_000244.3(MEN1):c.421C>T (p.Gln141Ter) rs886039553
NM_000244.3(MEN1):c.426C>T (p.Ser142=) rs753252650
NM_000244.3(MEN1):c.435C>T (p.Ser145=) rs61736636
NM_000244.3(MEN1):c.441C>T (p.Ile147=) rs878855193
NM_000244.3(MEN1):c.461-1G>C
NM_000244.3(MEN1):c.461-2A>G rs886042035
NM_000244.3(MEN1):c.461-3C>A rs377461506
NM_000244.3(MEN1):c.461-9C>A rs1371109251
NM_000244.3(MEN1):c.473A>T (p.Asp158Val) rs1565648789
NM_000244.3(MEN1):c.480C>T (p.Ser160=) rs936786553
NM_000244.3(MEN1):c.481G>A (p.Gly161Ser)
NM_000244.3(MEN1):c.482G>A (p.Gly161Asp) rs794728648
NM_000244.3(MEN1):c.484G>A (p.Val162Met) rs1555165872
NM_000244.3(MEN1):c.486G>A (p.Val162=) rs878855194
NM_000244.3(MEN1):c.488C>A (p.Ala163Asp) rs794728617
NM_000244.3(MEN1):c.488C>T (p.Ala163Val)
NM_000244.3(MEN1):c.489C>T (p.Ala163=) rs772526802
NM_000244.3(MEN1):c.48C>T (p.Ile16=) rs1060503797
NM_000244.3(MEN1):c.493G>C (p.Ala165Pro) rs1565648656
NM_000244.3(MEN1):c.49G>A (p.Asp17Asn) rs1399824473
NM_000244.3(MEN1):c.500T>C (p.Val167Ala) rs748648909
NM_000244.3(MEN1):c.505G>T (p.Ala169Ser)
NM_000244.3(MEN1):c.506C>T (p.Ala169Val) rs1565648547
NM_000244.3(MEN1):c.507C>T (p.Ala169=) rs146759807
NM_000244.3(MEN1):c.509G>A (p.Cys170Tyr) rs1057521111
NM_000244.3(MEN1):c.510C>A (p.Cys170Ter)
NM_000244.3(MEN1):c.517C>G (p.Leu173Val) rs1555165846
NM_000244.3(MEN1):c.518T>C (p.Leu173Pro) rs386134256
NM_000244.3(MEN1):c.526C>T (p.Arg176Trp) rs143329068
NM_000244.3(MEN1):c.527G>A (p.Arg176Gln) rs607969
NM_000244.3(MEN1):c.528G>C (p.Arg176=) rs560870111
NM_000244.3(MEN1):c.540C>T (p.Leu180=) rs200155578
NM_000244.3(MEN1):c.541G>C (p.Ala181Pro) rs376872829
NM_000244.3(MEN1):c.541G>T (p.Ala181Ser) rs376872829
NM_000244.3(MEN1):c.544C>G (p.Leu182Val)
NM_000244.3(MEN1):c.546G>A (p.Leu182=) rs146568011
NM_000244.3(MEN1):c.54C>T (p.Asp18=) rs1316973259
NM_000244.3(MEN1):c.552_553delinsTT (p.Glu184_Asp185delinsAspTyr) rs1555165809
NM_000244.3(MEN1):c.563G>A (p.Trp188Ter) rs794728650
NM_000244.3(MEN1):c.569T>C (p.Val190Ala) rs764847812
NM_000244.3(MEN1):c.578C>T (p.Pro193Leu) rs199706698
NM_000244.3(MEN1):c.578_579del (p.Pro193fs) rs1555165756
NM_000244.3(MEN1):c.581A>G (p.Asn194Ser) rs587780844
NM_000244.3(MEN1):c.583G>A (p.Gly195Arg) rs1555165742
NM_000244.3(MEN1):c.584G>A (p.Gly195Glu) rs878855195
NM_000244.3(MEN1):c.585G>A (p.Gly195=) rs547249181
NM_000244.3(MEN1):c.593C>G (p.Thr198Arg)
NM_000244.3(MEN1):c.5G>A (p.Gly2Glu)
NM_000244.3(MEN1):c.600G>A (p.Glu200=) rs864622177
NM_000244.3(MEN1):c.605C>T (p.Thr202Ile)
NM_000244.3(MEN1):c.606C>G (p.Thr202=) rs527294715
NM_000244.3(MEN1):c.609G>A (p.Trp203Ter) rs104894257
NM_000244.3(MEN1):c.60G>C (p.Val20=) rs776432516
NM_000244.3(MEN1):c.612C>A (p.His204Gln) rs150512958
NM_000244.3(MEN1):c.612C>T (p.His204=) rs150512958
NM_000244.3(MEN1):c.613G>A (p.Gly205Ser)
NM_000244.3(MEN1):c.61C>G (p.Arg21Gly) rs541476418
NM_000244.3(MEN1):c.624C>T (p.Asn208=) rs749844029
NM_000244.3(MEN1):c.632G>A (p.Arg211His) rs1565647825
NM_000244.3(MEN1):c.633C>T (p.Arg211=) rs1555165717
NM_000244.3(MEN1):c.636G>A (p.Arg212=) rs779966911
NM_000244.3(MEN1):c.638_1065-143del
NM_000244.3(MEN1):c.640C>T (p.Gln214Ter) rs1565647767
NM_000244.3(MEN1):c.642G>C (p.Gln214His) rs1565647751
NM_000244.3(MEN1):c.643_646del (p.Thr215fs) rs794728640
NM_000244.3(MEN1):c.644C>G (p.Thr215Arg) rs756287855
NM_000244.3(MEN1):c.647T>G (p.Val216Gly) rs1565647698
NM_000244.3(MEN1):c.648del (p.Asn217fs) rs878855196
NM_000244.3(MEN1):c.649A>G (p.Asn217Asp) rs1060499980
NM_000244.3(MEN1):c.650A>G (p.Asn217Ser) rs1438685841
NM_000244.3(MEN1):c.654C>T (p.Ala218=) rs746067825
NM_000244.3(MEN1):c.655G>A (p.Gly219Ser) rs781493730
NM_000244.3(MEN1):c.658G>A (p.Val220Met) rs794728621
NM_000244.3(MEN1):c.659_667delinsGCCCCT (p.Val220_Arg223delinsGlyProTrp) rs386134257
NM_000244.3(MEN1):c.661G>C (p.Ala221Pro)
NM_000244.3(MEN1):c.667C>T (p.Arg223Trp) rs794728620
NM_000244.3(MEN1):c.669+10C>T rs921850475
NM_000244.3(MEN1):c.669+1G>T rs794728622
NM_000244.3(MEN1):c.669+9C>A rs202134234
NM_000244.3(MEN1):c.669+9C>G rs202134234
NM_000244.3(MEN1):c.669+9C>T rs202134234
NM_000244.3(MEN1):c.670-11dup rs772016629
NM_000244.3(MEN1):c.670-15_673del
NM_000244.3(MEN1):c.670-1G>A
NM_000244.3(MEN1):c.670-4del rs748005956
NM_000244.3(MEN1):c.670-5C>G rs752563214
NM_000244.3(MEN1):c.670-6C>A rs77461664
NM_000244.3(MEN1):c.670-6C>G rs77461664
NM_000244.3(MEN1):c.670-6C>T rs77461664
NM_000244.3(MEN1):c.670-6_670-4del rs1555165623
NM_000244.3(MEN1):c.670-7C>A rs771297371
NM_000244.3(MEN1):c.674G>A (p.Trp225Ter) rs1565647197
NM_000244.3(MEN1):c.675G>T (p.Trp225Cys)
NM_000244.3(MEN1):c.680A>C (p.Tyr227Ser) rs1555165601
NM_000244.3(MEN1):c.696C>A (p.Tyr232Ter) rs778921501
NM_000244.3(MEN1):c.697A>G (p.Met233Val) rs1060499982
NM_000244.3(MEN1):c.700C>T (p.Arg234Cys) rs754378887
NM_000244.3(MEN1):c.701G>A (p.Arg234His) rs878855197
NM_000244.3(MEN1):c.709C>T (p.Arg237Cys) rs1225847249
NM_000244.3(MEN1):c.711C>T (p.Arg237=)
NM_000244.3(MEN1):c.713A>C (p.Lys238Thr)
NM_000244.3(MEN1):c.717G>A (p.Met239Ile) rs1448041546
NM_000244.3(MEN1):c.71C>T (p.Ala24Val) rs1328062930
NM_000244.3(MEN1):c.725C>T (p.Ala242Val) rs760289964
NM_000244.3(MEN1):c.726G>A (p.Ala242=) rs144677807
NM_000244.3(MEN1):c.735G>T (p.Val245=) rs1555165534
NM_000244.3(MEN1):c.736T>C (p.Cys246Arg)
NM_000244.3(MEN1):c.737G>A (p.Cys246Tyr) rs794728624
NM_000244.3(MEN1):c.741C>T (p.Ala247=) rs1198651608
NM_000244.3(MEN1):c.744C>T (p.Ile248=) rs1353237754
NM_000244.3(MEN1):c.74C>T (p.Ala25Val) rs1462138625
NM_000244.3(MEN1):c.751T>G (p.Ser251Ala) rs1175283759
NM_000244.3(MEN1):c.754A>G (p.Ile252Val) rs1555165508
NM_000244.3(MEN1):c.754_760del (p.Ile252fs) rs1555165503
NM_000244.3(MEN1):c.761_764dup (p.Thr256fs)
NM_000244.3(MEN1):c.768C>T (p.Thr256=) rs763326062
NM_000244.3(MEN1):c.769G>C (p.Asp257His)
NM_000244.3(MEN1):c.769G>T (p.Asp257Tyr) rs770368608
NM_000244.3(MEN1):c.76G>A (p.Glu26Lys) rs28931612
NM_000244.3(MEN1):c.773C>G (p.Ser258Trp) rs386134259
NM_000244.3(MEN1):c.773C>T (p.Ser258Leu) rs386134259
NM_000244.3(MEN1):c.773del (p.Ser258fs)
NM_000244.3(MEN1):c.774G>A (p.Ser258=) rs201829546
NM_000244.3(MEN1):c.774G>T (p.Ser258=) rs201829546
NM_000244.3(MEN1):c.777G>A (p.Leu259=) rs199909967
NM_000244.3(MEN1):c.778G>C (p.Glu260Gln) rs104894268
NM_000244.3(MEN1):c.781C>T (p.Leu261Phe) rs878855198
NM_000244.3(MEN1):c.785_790TGCAGC[3] (p.262_263LQ[3]) rs1555165485
NM_000244.3(MEN1):c.787C>G (p.Gln263Glu)
NM_000244.3(MEN1):c.787C>T (p.Gln263Ter) rs886039416
NM_000244.3(MEN1):c.789G>C (p.Gln263His) rs374659656
NM_000244.3(MEN1):c.796C>T (p.Gln266Ter) rs1057520733
NM_000244.3(MEN1):c.798+1G>A rs794728652
NM_000244.3(MEN1):c.798+7G>A rs1060503793
NM_000244.3(MEN1):c.799-10C>A rs71526470
NM_000244.3(MEN1):c.799-10C>T rs71526470
NM_000244.3(MEN1):c.799-1G>C rs1555165377
NM_000244.3(MEN1):c.799-9G>A rs794728625
NM_000244.3(MEN1):c.800A>G (p.Lys267Arg) rs1555165373
NM_000244.3(MEN1):c.803T>C (p.Leu268Pro) rs1114167502
NM_000244.3(MEN1):c.810G>A (p.Trp270Ter)
NM_000244.3(MEN1):c.816C>G (p.Leu272=)
NM_000244.3(MEN1):c.818A>G (p.Tyr273Cys) rs773500082
NM_000244.3(MEN1):c.820G>A (p.Asp274Asn) rs878855199
NM_000244.3(MEN1):c.826G>A (p.Gly276Arg) rs1565645918
NM_000244.3(MEN1):c.833T>C (p.Leu278Pro)
NM_000244.3(MEN1):c.834G>T (p.Leu278=) rs748369241
NM_000244.3(MEN1):c.838A>G (p.Arg280Gly)
NM_000244.3(MEN1):c.838del (p.Arg280fs) rs1555165360
NM_000244.3(MEN1):c.839+1G>T rs1060499976
NM_000244.3(MEN1):c.839G>A (p.Arg280Lys)
NM_000244.3(MEN1):c.840-10C>G rs999121619
NM_000244.3(MEN1):c.840-8T>C rs1555165330
NM_000244.3(MEN1):c.842A>G (p.Tyr281Cys) rs1555165327
NM_000244.3(MEN1):c.843C>A (p.Tyr281Ter) rs1060503789
NM_000244.3(MEN1):c.843C>T (p.Tyr281=) rs1060503789
NM_000244.3(MEN1):c.845C>A (p.Pro282His) rs1060499973
NM_000244.3(MEN1):c.845C>T (p.Pro282Leu) rs1060499973
NM_000244.3(MEN1):c.848T>G (p.Met283Arg)
NM_000244.3(MEN1):c.852C>T (p.Ala284=) rs762092675
NM_000244.3(MEN1):c.854T>C (p.Leu285Ser)
NM_000244.3(MEN1):c.858G>C (p.Gly286=) rs562620826
NM_000244.3(MEN1):c.85C>T (p.Arg29Ter) rs794728615
NM_000244.3(MEN1):c.866C>A (p.Ala289Glu) rs1565645563
NM_000244.3(MEN1):c.871C>T (p.Leu291=) rs542321016
NM_000244.3(MEN1):c.87A>C (p.Arg29=) rs1198070818
NM_000244.3(MEN1):c.883G>A (p.Glu295Lys)
NM_000244.3(MEN1):c.884A>C (p.Glu295Ala) rs1213891703
NM_000244.3(MEN1):c.884A>T (p.Glu295Val)
NM_000244.3(MEN1):c.895G>A (p.Gly299Ser) rs1565645429
NM_000244.3(MEN1):c.898C>T (p.Arg300Trp) rs1046929915
NM_000244.3(MEN1):c.899G>A (p.Arg300Gln) rs1397110438
NM_000244.3(MEN1):c.907C>G (p.Pro303Ala) rs1555165268
NM_000244.3(MEN1):c.923A>G (p.His308Arg)
NM_000244.3(MEN1):c.924C>T (p.His308=) rs878855200
NM_000244.3(MEN1):c.927+1G>C rs398124437
NM_000244.3(MEN1):c.927+5G>A
NM_000244.3(MEN1):c.928-2A>G rs1114167498
NM_000244.3(MEN1):c.928-4C>T rs770413697
NM_000244.3(MEN1):c.928G>A (p.Gly310Ser) rs1555165146
NM_000244.3(MEN1):c.92A>G (p.Glu31Gly) rs1060499977
NM_000244.3(MEN1):c.92A>T (p.Glu31Val) rs1060499977
NM_000244.3(MEN1):c.936C>T (p.Ala312=) rs1060503788
NM_000244.3(MEN1):c.947C>T (p.Thr316Ile) rs1565644342
NM_000244.3(MEN1):c.94C>T (p.Pro32Ser) rs773089218
NM_000244.3(MEN1):c.950A>T (p.Tyr317Phe)
NM_000244.3(MEN1):c.955_1065-227del rs1555164870
NM_000244.3(MEN1):c.956G>A (p.Arg319Gln) rs771645621
NM_000244.3(MEN1):c.967A>G (p.Ile323Val) rs1565644220
NM_000244.3(MEN1):c.970T>G (p.Tyr324Asp) rs1555165101
NM_000244.3(MEN1):c.978C>T (p.Tyr326=) rs1555165094
NM_000244.3(MEN1):c.979A>G (p.Met327Val) rs1555165089
NM_000244.3(MEN1):c.979A>T (p.Met327Leu) rs1555165089
NM_000244.3(MEN1):c.981G>A (p.Met327Ile)
NM_000244.3(MEN1):c.984C>A (p.Tyr328Ter) rs750904332
NM_000244.3(MEN1):c.984C>G (p.Tyr328Ter) rs750904332
NM_000244.3(MEN1):c.987G>A (p.Leu329=)
NM_000244.3(MEN1):c.989C>A (p.Ala330Asp) rs370840265
NM_000244.3(MEN1):c.993C>T (p.Gly331=) rs1555165071
NM_000244.3(MEN1):c.995A>G (p.Tyr332Cys)
NM_000244.3(MEN1):c.997C>A (p.His333Asn)
NM_000244.3(MEN1):c.997C>G (p.His333Asp) rs794727882

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