ClinVar Miner

List of variants in gene MEN1 reported as pathogenic for Hereditary cancer-predisposing syndrome

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Gene type:
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Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter) rs1060499974 0.00001
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter) rs104894267 0.00001
NM_001370259.2(MEN1):c.1001_1005dup (p.Glu336fs) rs1114167483
NM_001370259.2(MEN1):c.1004delinsTT (p.Arg335fs) rs1114167506
NM_001370259.2(MEN1):c.1010C>A (p.Ala337Asp) rs2136118998
NM_001370259.2(MEN1):c.1015C>T (p.Gln339Ter) rs1592643178
NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter) rs1114167482
NM_001370259.2(MEN1):c.1049+1G>A rs1114167489
NM_001370259.2(MEN1):c.1049+2T>G
NM_001370259.2(MEN1):c.1053C>G (p.Tyr351Ter) rs767078097
NM_001370259.2(MEN1):c.1059C>G (p.Tyr353Ter)
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del) rs869025185
NM_001370259.2(MEN1):c.1099del (p.Glu366_Val367insTer)
NM_001370259.2(MEN1):c.1100_1131del (p.Val367fs) rs1592640213
NM_001370259.2(MEN1):c.1110del (p.Asp370fs) rs794728658
NM_001370259.2(MEN1):c.1132G>T (p.Glu378Ter)
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_001370259.2(MEN1):c.1154_1155dup (p.Gly386fs) rs1592640081
NM_001370259.2(MEN1):c.1174G>T (p.Glu392Ter) rs772588551
NM_001370259.2(MEN1):c.1177C>T (p.Gln393Ter) rs1060499984
NM_001370259.2(MEN1):c.1180del (p.Ser394fs)
NM_001370259.2(MEN1):c.1202del (p.Gly401fs) rs1941625647
NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter) rs864622615
NM_001370259.2(MEN1):c.1214dup (p.Asp406fs) rs1114167513
NM_001370259.2(MEN1):c.1224_1225insGTCC (p.Cys409fs) rs1114167524
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.1252G>T (p.Asp418Tyr) rs104894264
NM_001370259.2(MEN1):c.1269G>A (p.Trp423Ter) rs1114167533
NM_001370259.2(MEN1):c.1270G>T (p.Glu424Ter) rs1114167477
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg) rs104894259
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys) rs398124435
NM_001370259.2(MEN1):c.1330del (p.Ser443_Leu444insTer) rs1114167520
NM_001370259.2(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_001370259.2(MEN1):c.1348C>T (p.Gln450Ter) rs1114167509
NM_001370259.2(MEN1):c.1350+1G>A rs863223311
NM_001370259.2(MEN1):c.1350+1_1350+11del rs764570645
NM_001370259.2(MEN1):c.1375_1391dup (p.Ala467fs) rs2136092832
NM_001370259.2(MEN1):c.1380_1383del (p.Glu461fs)
NM_001370259.2(MEN1):c.1382_1389dup (p.Ala464fs) rs1114167531
NM_001370259.2(MEN1):c.1387G>T (p.Glu463Ter)
NM_001370259.2(MEN1):c.1390delinsCCT (p.Ala464fs) rs1114167500
NM_001370259.2(MEN1):c.1400_1413del (p.Ala467fs) rs1592633463
NM_001370259.2(MEN1):c.1406_1413dup (p.Gly472fs) rs1114167536
NM_001370259.2(MEN1):c.1413G>A (p.Trp471Ter) rs1941556077
NM_001370259.2(MEN1):c.1417G>T (p.Glu473Ter)
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter) rs863224526
NM_001370259.2(MEN1):c.1429del (p.Glu477fs)
NM_001370259.2(MEN1):c.1445del (p.Gly482fs)
NM_001370259.2(MEN1):c.1461dup (p.Lys488fs)
NM_001370259.2(MEN1):c.1464del (p.Lys488fs) rs886039420
NM_001370259.2(MEN1):c.1478del (p.Pro493fs)
NM_001370259.2(MEN1):c.1504_1507dup (p.Gly503fs) rs1114167476
NM_001370259.2(MEN1):c.1529_1530del (p.Ala510fs) rs1114167522
NM_001370259.2(MEN1):c.1533_1534dup (p.Ser512fs) rs794728659
NM_001370259.2(MEN1):c.1546del (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs) rs761695866
NM_001370259.2(MEN1):c.1549A>T (p.Lys517Ter) rs794728630
NM_001370259.2(MEN1):c.1574del (p.Thr525fs) rs1114167514
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
NM_001370259.2(MEN1):c.1602_1618del (p.Ala535fs) rs794728660
NM_001370259.2(MEN1):c.1609del (p.Val537fs) rs2136083128
NM_001370259.2(MEN1):c.1614dup (p.Ala539fs)
NM_001370259.2(MEN1):c.1638_1639dup (p.Glu547fs) rs1114167496
NM_001370259.2(MEN1):c.1643_1721delinsTG (p.Gly548fs) rs1555163136
NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter) rs794728631
NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs) rs1114167510
NM_001370259.2(MEN1):c.1666G>T (p.Glu556Ter) rs1114167501
NM_001370259.2(MEN1):c.1675A>T (p.Lys559Ter)
NM_001370259.2(MEN1):c.16_17del (p.Ala6fs) rs1114167523
NM_001370259.2(MEN1):c.190_196delinsAAGCCCAGCCCC (p.Gln64fs)
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs) rs1555166609
NM_001370259.2(MEN1):c.1A>C (p.Met1Leu) rs386134250
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.1A>T (p.Met1Leu) rs386134250
NM_001370259.2(MEN1):c.202_206dup (p.Asp70fs) rs730882136
NM_001370259.2(MEN1):c.223del (p.Leu75fs) rs1114167485
NM_001370259.2(MEN1):c.231C>A (p.Tyr77Ter)
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter) rs1555166567
NM_001370259.2(MEN1):c.234dup (p.Pro79fs) rs2136188431
NM_001370259.2(MEN1):c.237del (p.Val80fs) rs1114167486
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_001370259.2(MEN1):c.265del (p.Leu89fs) rs1114167490
NM_001370259.2(MEN1):c.270T>A (p.Tyr90Ter) rs1114167527
NM_001370259.2(MEN1):c.273_276del (p.Arg92fs) rs1114167516
NM_001370259.2(MEN1):c.292C>T (p.Arg98Ter) rs886039413
NM_001370259.2(MEN1):c.2T>C (p.Met1Thr)
NM_001370259.2(MEN1):c.2T>G (p.Met1Arg)
NM_001370259.2(MEN1):c.307del (p.Leu103fs) rs794728639
NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter) rs794728647
NM_001370259.2(MEN1):c.32del (p.Phe11fs) rs1592661082
NM_001370259.2(MEN1):c.336del (p.Ser113fs) rs1114167478
NM_001370259.2(MEN1):c.340dup (p.Ser114fs) rs886041213
NM_001370259.2(MEN1):c.343del (p.Arg115fs)
NM_001370259.2(MEN1):c.346G>T (p.Glu116Ter) rs1060499992
NM_001370259.2(MEN1):c.350del (p.Leu117fs) rs1555166387
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del) rs794728657
NM_001370259.2(MEN1):c.378del (p.Ile125_Trp126insTer) rs1114167492
NM_001370259.2(MEN1):c.386del (p.Leu129fs) rs1565651223
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_001370259.2(MEN1):c.402del (p.Phe134fs) rs397515385
NM_001370259.2(MEN1):c.415C>G (p.His139Asp) rs104894263
NM_001370259.2(MEN1):c.416A>G (p.His139Arg) rs1114167515
NM_001370259.2(MEN1):c.417del (p.His139fs) rs1114167540
NM_001370259.2(MEN1):c.41_42dup (p.Ser15fs) rs1592660983
NM_001370259.2(MEN1):c.429_432delinsATT (p.Phe144fs) rs1114167481
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_001370259.2(MEN1):c.431_432delinsAA (p.Phe144Ter) rs1114167511
NM_001370259.2(MEN1):c.435delinsTT (p.Ile147fs)
NM_001370259.2(MEN1):c.442del (p.Thr148fs) rs1941975256
NM_001370259.2(MEN1):c.446-1G>A rs1064793672
NM_001370259.2(MEN1):c.446-2A>G rs886042035
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys) rs1085307471
NM_001370259.2(MEN1):c.467G>A (p.Gly156Asp) rs794728648
NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro) rs1565648656
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro) rs376872829
NM_001370259.2(MEN1):c.526del (p.Ala176fs)
NM_001370259.2(MEN1):c.529_530del (p.Leu177fs) rs1114167470
NM_001370259.2(MEN1):c.530del (p.Leu177fs) rs1114167503
NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter) rs794728650
NM_001370259.2(MEN1):c.563_564del (p.Pro188fs) rs1555165756
NM_001370259.2(MEN1):c.577del (p.Thr193fs) rs1592650986
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs) rs794728640
NM_001370259.2(MEN1):c.654+1G>A rs794728622
NM_001370259.2(MEN1):c.654+1G>T rs794728622
NM_001370259.2(MEN1):c.655-1G>C rs1592649615
NM_001370259.2(MEN1):c.660G>A (p.Trp220Ter) rs886039414
NM_001370259.2(MEN1):c.666C>A (p.Tyr222Ter) rs1555165597
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro) rs886039415
NM_001370259.2(MEN1):c.682_685dup (p.Arg229fs) rs1114167519
NM_001370259.2(MEN1):c.688dup (p.Cys230fs)
NM_001370259.2(MEN1):c.690T>A (p.Cys230Ter)
NM_001370259.2(MEN1):c.697A>T (p.Lys233Ter) rs1114167499
NM_001370259.2(MEN1):c.6del (p.Gly2_Leu3insTer) rs2136197117
NM_001370259.2(MEN1):c.703G>A (p.Glu235Lys) rs1114167488
NM_001370259.2(MEN1):c.706_709dup (p.Ala237fs) rs1114167534
NM_001370259.2(MEN1):c.723_724del (p.Ala242fs) rs1592649069
NM_001370259.2(MEN1):c.727_734del (p.Ile243fs) rs1114167532
NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter) rs104894266
NM_001370259.2(MEN1):c.781C>T (p.Gln261Ter) rs1057520733
NM_001370259.2(MEN1):c.783+1G>A rs794728652
NM_001370259.2(MEN1):c.783+1G>C rs794728652
NM_001370259.2(MEN1):c.783+1G>T rs794728652
NM_001370259.2(MEN1):c.784-2A>G rs1114167472
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001370259.2(MEN1):c.794G>A (p.Trp265Ter) rs2136134076
NM_001370259.2(MEN1):c.824+1G>A rs1060499976
NM_001370259.2(MEN1):c.824G>A (p.Arg275Lys) rs1187634059
NM_001370259.2(MEN1):c.825-1_828delinsTACCTAGAGGTT rs1592646831
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter) rs1060503789
NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter) rs794728615
NM_001370259.2(MEN1):c.89_90del (p.Glu30fs)
NM_001370259.2(MEN1):c.911del (p.Lys304fs) rs1592646226
NM_001370259.2(MEN1):c.912+1G>A rs398124437
NM_001370259.2(MEN1):c.912+1G>C rs398124437
NM_001370259.2(MEN1):c.923C>A (p.Ser308Ter) rs1565644366
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter) rs386134260
NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter) rs1555165128
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu) rs1114167469
NM_001370259.2(MEN1):c.961del (p.Tyr321fs)
NM_001370259.2(MEN1):c.967del (p.Tyr323fs) rs1114167541
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter) rs750904332
NM_001370259.2(MEN1):c.970del (p.Leu324fs) rs1114167508
NM_001370259.2(MEN1):c.979T>G (p.Tyr327Asp) rs1259383083
NM_130799.2(MEN1):c.1391_1392ins13 (p.?)
NM_130799.2:c.1430_1431insALU

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