ClinVar Miner

List of variants in gene MEN1 reported as likely pathogenic for parathyroid gland disorder

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 117
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu) rs761102084 0.00001
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser) rs1085307471 0.00001
NM_001370259.2(MEN1):c.1009G>C (p.Ala337Pro) rs2071312
NM_001370259.2(MEN1):c.1013dup (p.Gln339fs) rs386134245
NM_001370259.2(MEN1):c.1024G>C (p.Ala342Pro) rs776561706
NM_001370259.2(MEN1):c.1043T>A (p.Ile348Asn)
NM_001370259.2(MEN1):c.1049+2T>C rs1555164946
NM_001370259.2(MEN1):c.1049A>T (p.Asp350Val)
NM_001370259.2(MEN1):c.1063C>T (p.Arg355Trp) rs863224807
NM_001370259.2(MEN1):c.1063del (p.Arg355fs) rs386134246
NM_001370259.2(MEN1):c.1102del (p.Ala368fs) rs2136110242
NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser) rs794728627
NM_001370259.2(MEN1):c.113C>A (p.Ser38Tyr)
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_001370259.2(MEN1):c.1174dup (p.Glu392fs) rs386134247
NM_001370259.2(MEN1):c.1185+1G>A rs1941661315
NM_001370259.2(MEN1):c.1230del (p.Phe410fs)
NM_001370259.2(MEN1):c.1231G>C (p.Ala411Pro)
NM_001370259.2(MEN1):c.1232C>T (p.Ala411Val)
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs) rs1114167542
NM_001370259.2(MEN1):c.1256G>T (p.Gly419Val) rs1941615895
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr) rs386134249
NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg) rs1555164270
NM_001370259.2(MEN1):c.1270dup (p.Glu424fs)
NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg) rs1114167528
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg) rs104894259
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.1311dup (p.Thr438fs) rs1555164184
NM_001370259.2(MEN1):c.1328C>A (p.Ser443Tyr) rs1060499981
NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser) rs1941604532
NM_001370259.2(MEN1):c.134A>T (p.Glu45Val)
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His) rs1592636161
NM_001370259.2(MEN1):c.1354C>G (p.Arg452Gly)
NM_001370259.2(MEN1):c.1355G>C (p.Arg452Pro) rs775922507
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp) rs778670301
NM_001370259.2(MEN1):c.1364T>A (p.Val455Glu) rs878855189
NM_001370259.2(MEN1):c.137A>C (p.His46Pro) rs2136192730
NM_001370259.2(MEN1):c.137A>G (p.His46Arg)
NM_001370259.2(MEN1):c.137A>T (p.His46Leu)
NM_001370259.2(MEN1):c.1397_1410del (p.Glu466fs)
NM_001370259.2(MEN1):c.1417G>T (p.Glu473Ter)
NM_001370259.2(MEN1):c.1471G>T (p.Glu491Ter)
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs) rs761695866
NM_001370259.2(MEN1):c.154C>G (p.Arg52Gly) rs1555166664
NM_001370259.2(MEN1):c.1564dup (p.Val522fs) rs1941522995
NM_001370259.2(MEN1):c.1663A>G (p.Ser555Gly)
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs) rs1114167510
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del) rs794728661
NM_001370259.2(MEN1):c.1673T>C (p.Met558Thr)
NM_001370259.2(MEN1):c.1732C>T (p.Gln578Ter)
NM_001370259.2(MEN1):c.1739del (p.Thr580fs) rs864622617
NM_001370259.2(MEN1):c.1756C>T (p.Gln586Ter)
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter) rs1555166567
NM_001370259.2(MEN1):c.252dup (p.Ile85fs) rs386134253
NM_001370259.2(MEN1):c.274del (p.Arg92fs) rs2136186754
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_001370259.2(MEN1):c.416A>C (p.His139Pro)
NM_001370259.2(MEN1):c.416A>G (p.His139Arg) rs1114167515
NM_001370259.2(MEN1):c.417C>A (p.His139Gln) rs386134254
NM_001370259.2(MEN1):c.417C>G (p.His139Gln) rs386134254
NM_001370259.2(MEN1):c.428T>G (p.Leu143Arg)
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_001370259.2(MEN1):c.445+1G>A
NM_001370259.2(MEN1):c.445+1G>T
NM_001370259.2(MEN1):c.458A>C (p.Asp153Ala) rs1565648789
NM_001370259.2(MEN1):c.465_466insAATT (p.Gly156fs) rs386134255
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys) rs1085307471
NM_001370259.2(MEN1):c.491C>T (p.Ala164Val) rs1565648547
NM_001370259.2(MEN1):c.493T>C (p.Cys165Arg)
NM_001370259.2(MEN1):c.494G>A (p.Cys165Tyr) rs1057521111
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro) rs386134256
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro) rs376872829
NM_001370259.2(MEN1):c.639C>A (p.Ala213=) rs746067825
NM_001370259.2(MEN1):c.643G>A (p.Val215Met) rs794728621
NM_001370259.2(MEN1):c.644T>A (p.Val215Glu)
NM_001370259.2(MEN1):c.649_654+2del rs386134258
NM_001370259.2(MEN1):c.64C>A (p.Leu22Met)
NM_001370259.2(MEN1):c.654+3A>G rs1064793168
NM_001370259.2(MEN1):c.655-15_658del rs1592649598
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_001370259.2(MEN1):c.673G>A (p.Gly225Arg) rs1057521110
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg) rs1592649108
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val) rs2136141530
NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter) rs386134259
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) rs386134259
NM_001370259.2(MEN1):c.762_768dup (p.Leu257fs) rs1555165488
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys) rs104894268
NM_001370259.2(MEN1):c.763G>C (p.Glu255Gln) rs104894268
NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe) rs878855198
NM_001370259.2(MEN1):c.767T>C (p.Leu256Pro)
NM_001370259.2(MEN1):c.783+2del
NM_001370259.2(MEN1):c.784-1G>A rs1555165377
NM_001370259.2(MEN1):c.784-1G>C rs1555165377
NM_001370259.2(MEN1):c.784-2A>T
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001370259.2(MEN1):c.791T>C (p.Leu264Pro) rs1941794175
NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro) rs1592647281
NM_001370259.2(MEN1):c.818T>G (p.Leu273Arg)
NM_001370259.2(MEN1):c.824+2T>C
NM_001370259.2(MEN1):c.825-1_825del rs2136130282
NM_001370259.2(MEN1):c.830C>A (p.Pro277His) rs1060499973
NM_001370259.2(MEN1):c.912+2T>A
NM_001370259.2(MEN1):c.912G>T (p.Lys304Asn) rs1592646211
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr) rs2136120898
NM_001370259.2(MEN1):c.955dup (p.Tyr319fs) rs386134261
NM_001370259.2(MEN1):c.958C>A (p.Pro320Thr)
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu) rs1114167469
NM_001370259.2(MEN1):c.970_984del (p.Leu324_His328del) rs1941723156
NM_001370259.2(MEN1):c.970del (p.Leu324fs) rs1114167508
NM_001370259.2(MEN1):c.97G>C (p.Asp33His)
NM_001370259.2(MEN1):c.97G>T (p.Asp33Tyr)
NM_001370259.2(MEN1):c.983A>C (p.His328Pro)

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.