ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.-6G>A rs768088337 0.00023
NM_001370259.2(MEN1):c.-23-135G>A rs587777949 0.00012
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp) rs149383809 0.00004
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys) rs587780843 0.00004
NM_001370259.2(MEN1):c.774G>C (p.Gln258His) rs374659656 0.00004
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp) rs566593066 0.00003
NM_001370259.2(MEN1):c.215C>A (p.Pro72His) rs878856863 0.00003
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser) rs587780844 0.00003
NM_001370259.2(MEN1):c.94C>T (p.Pro32Ser) rs773089218 0.00003
NM_001370259.2(MEN1):c.1012C>G (p.Leu338Val) rs759337318 0.00002
NM_001370259.2(MEN1):c.1366C>T (p.Arg456Cys) rs765306552 0.00002
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys) rs386833403 0.00002
NM_001370259.2(MEN1):c.989G>A (p.Arg330His) rs373135175 0.00002
NM_001370259.2(MEN1):c.1025C>T (p.Ala342Val) rs377715802 0.00001
NM_001370259.2(MEN1):c.1138G>A (p.Ala380Thr) rs1225964479 0.00001
NM_001370259.2(MEN1):c.1157G>A (p.Gly386Asp) rs761360623 0.00001
NM_001370259.2(MEN1):c.1159G>A (p.Glu387Lys) rs773978650 0.00001
NM_001370259.2(MEN1):c.1379G>A (p.Arg460Gln) rs200035619 0.00001
NM_001370259.2(MEN1):c.1399G>A (p.Ala467Thr) rs779589005 0.00001
NM_001370259.2(MEN1):c.1465C>T (p.Pro489Ser) rs587778440 0.00001
NM_001370259.2(MEN1):c.1478C>T (p.Pro493Leu) rs766604600 0.00001
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln) rs1085307502 0.00001
NM_001370259.2(MEN1):c.1777T>C (p.Ser593Pro) rs1411766225 0.00001
NM_001370259.2(MEN1):c.188T>A (p.Phe63Tyr) rs1366457977 0.00001
NM_001370259.2(MEN1):c.189C>G (p.Phe63Leu) rs137880635 0.00001
NM_001370259.2(MEN1):c.210C>A (p.Asp70Glu) rs150308912 0.00001
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu) rs1389398299 0.00001
NM_001370259.2(MEN1):c.344G>A (p.Arg115His) rs1114167507 0.00001
NM_001370259.2(MEN1):c.485T>C (p.Val162Ala) rs748648909 0.00001
NM_001370259.2(MEN1):c.526G>T (p.Ala176Ser) rs376872829 0.00001
NM_001370259.2(MEN1):c.568G>A (p.Gly190Arg) rs1555165742 0.00001
NM_001370259.2(MEN1):c.635A>G (p.Asn212Ser) rs1438685841 0.00001
NM_001370259.2(MEN1):c.655-5C>G rs752563214 0.00001
NM_001370259.2(MEN1):c.710C>T (p.Ala237Val) rs760289964 0.00001
NM_001370259.2(MEN1):c.736T>G (p.Ser246Ala) rs1175283759 0.00001
NM_001370259.2(MEN1):c.74C>T (p.Ala25Val) rs1462138625 0.00001
NM_001370259.2(MEN1):c.839T>C (p.Leu280Ser) rs368619946 0.00001
NM_001370259.2(MEN1):c.940C>T (p.Arg314Trp) rs139936447 0.00001
NM_001370259.2(MEN1):c.1003C>T (p.Arg335Trp) rs371364206
NM_001370259.2(MEN1):c.1039G>A (p.Val347Ile)
NM_001370259.2(MEN1):c.1049+1G>A rs1114167489
NM_001370259.2(MEN1):c.1050-3C>G
NM_001370259.2(MEN1):c.1055A>G (p.Asn352Ser)
NM_001370259.2(MEN1):c.1117C>A (p.Pro373Thr) rs794728627
NM_001370259.2(MEN1):c.1121A>C (p.Asn374Thr)
NM_001370259.2(MEN1):c.1126C>A (p.Leu376Met)
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val) rs1298484645
NM_001370259.2(MEN1):c.1163A>G (p.Glu388Gly)
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln) rs775267651
NM_001370259.2(MEN1):c.1166G>C (p.Arg389Pro) rs775267651
NM_001370259.2(MEN1):c.1192C>G (p.Gln398Glu) rs886039418
NM_001370259.2(MEN1):c.1202G>T (p.Gly401Val) rs878855186
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs) rs1114167542
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) rs104894264
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr) rs386134249
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp) rs778670301
NM_001370259.2(MEN1):c.1366C>A (p.Arg456Ser)
NM_001370259.2(MEN1):c.1367G>A (p.Arg456His) rs372468697
NM_001370259.2(MEN1):c.1373T>C (p.Val458Ala)
NM_001370259.2(MEN1):c.1379G>C (p.Arg460Pro) rs200035619
NM_001370259.2(MEN1):c.1387G>A (p.Glu463Lys) rs748102589
NM_001370259.2(MEN1):c.1391_1405del (p.Ala464_Glu468del) rs1592633626
NM_001370259.2(MEN1):c.1397_1410del (p.Glu466fs)
NM_001370259.2(MEN1):c.1398G>T (p.Glu466Asp) rs990566024
NM_001370259.2(MEN1):c.1399G>T (p.Ala467Ser)
NM_001370259.2(MEN1):c.1427G>A (p.Arg476Gln) rs753185026
NM_001370259.2(MEN1):c.1441C>T (p.Arg481Trp)
NM_001370259.2(MEN1):c.1473G>T (p.Glu491Asp)
NM_001370259.2(MEN1):c.14C>T (p.Ala5Val)
NM_001370259.2(MEN1):c.1502A>T (p.Asp501Val)
NM_001370259.2(MEN1):c.1502_1513del (p.Asp501_Leu504del)
NM_001370259.2(MEN1):c.1541C>G (p.Pro514Arg) rs753022747
NM_001370259.2(MEN1):c.1547G>A (p.Arg516Gln) rs1565637104
NM_001370259.2(MEN1):c.1588G>A (p.Glu530Lys)
NM_001370259.2(MEN1):c.1637C>T (p.Pro546Leu) rs779413959
NM_001370259.2(MEN1):c.1648G>C (p.Val550Leu) rs562257963
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu) rs562257963
NM_001370259.2(MEN1):c.1682T>C (p.Met561Thr) rs1941501393
NM_001370259.2(MEN1):c.1699G>C (p.Ala567Pro) rs1555163185
NM_001370259.2(MEN1):c.1735C>T (p.Leu579Phe) rs1328296968
NM_001370259.2(MEN1):c.1760T>G (p.Met587Arg)
NM_001370259.2(MEN1):c.1778C>T (p.Ser593Phe)
NM_001370259.2(MEN1):c.1780A>C (p.Thr594Pro)
NM_001370259.2(MEN1):c.1795A>G (p.Thr599Ala) rs1941487702
NM_001370259.2(MEN1):c.179A>G (p.Glu60Gly) rs1942007547
NM_001370259.2(MEN1):c.196A>C (p.Ser66Arg) rs1942005110
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs) rs1555166609
NM_001370259.2(MEN1):c.205C>T (p.Pro69Ser) rs1060499995
NM_001370259.2(MEN1):c.208G>A (p.Asp70Asn) rs1283021293
NM_001370259.2(MEN1):c.244G>T (p.Asp82Tyr)
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_001370259.2(MEN1):c.253A>G (p.Ile85Val)
NM_001370259.2(MEN1):c.259G>A (p.Ala87Thr)
NM_001370259.2(MEN1):c.281C>T (p.Thr94Ile) rs1565651820
NM_001370259.2(MEN1):c.313C>G (p.Leu105Val) rs1941990096
NM_001370259.2(MEN1):c.319C>G (p.Pro107Ala)
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
NM_001370259.2(MEN1):c.327A>C (p.Glu109Asp) rs773976527
NM_001370259.2(MEN1):c.332G>A (p.Gly111Asp)
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del) rs794728657
NM_001370259.2(MEN1):c.361G>A (p.Val121Ile) rs863224812
NM_001370259.2(MEN1):c.367G>A (p.Asp123Asn) rs1941982745
NM_001370259.2(MEN1):c.418A>T (p.Ile140Phe) rs376510601
NM_001370259.2(MEN1):c.432C>G (p.Phe144Leu)
NM_001370259.2(MEN1):c.443C>T (p.Thr148Ile)
NM_001370259.2(MEN1):c.44C>G (p.Ser15Cys) rs1056705868
NM_001370259.2(MEN1):c.526G>A (p.Ala176Thr) rs376872829
NM_001370259.2(MEN1):c.577A>G (p.Thr193Ala)
NM_001370259.2(MEN1):c.619A>G (p.Arg207Gly) rs1941853632
NM_001370259.2(MEN1):c.638C>G (p.Ala213Gly)
NM_001370259.2(MEN1):c.653G>A (p.Arg218Gln) rs1423517569
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro) rs886039415
NM_001370259.2(MEN1):c.682A>G (p.Met228Val) rs1060499982
NM_001370259.2(MEN1):c.686G>A (p.Arg229His) rs878855197
NM_001370259.2(MEN1):c.691G>C (p.Asp231His) rs1941827572
NM_001370259.2(MEN1):c.700A>T (p.Met234Leu) rs1296948476
NM_001370259.2(MEN1):c.71C>T (p.Ala24Val) rs1328062930
NM_001370259.2(MEN1):c.751A>G (p.Thr251Ala)
NM_001370259.2(MEN1):c.754G>C (p.Asp252His) rs770368608
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) rs386134259
NM_001370259.2(MEN1):c.785A>G (p.Lys262Arg) rs1555165373
NM_001370259.2(MEN1):c.809T>C (p.Leu270Pro) rs1592647333
NM_001370259.2(MEN1):c.869A>C (p.Glu290Ala) rs1213891703
NM_001370259.2(MEN1):c.899C>T (p.Thr300Ile) rs1941776482
NM_001370259.2(MEN1):c.92A>T (p.Glu31Val) rs1060499977
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr) rs2136120898
NM_001370259.2(MEN1):c.958C>T (p.Pro320Ser) rs1941726727
NM_001370259.2(MEN1):c.964A>T (p.Met322Leu) rs1555165089
NM_001370259.2(MEN1):c.970del (p.Leu324fs) rs1114167508

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.