ClinVar Miner

List of variants in gene MEN1 reported as likely pathogenic by Ambry Genetics

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_001370259.2(MEN1):c.1013T>C (p.Leu338Pro) rs1114167480
NM_001370259.2(MEN1):c.1049+1G>C rs1114167489
NM_001370259.2(MEN1):c.1051T>A (p.Tyr351Asn)
NM_001370259.2(MEN1):c.1064G>A (p.Arg355Gln) rs1114167474
NM_001370259.2(MEN1):c.108_122del (p.Leu37_Leu41del) rs1555166695
NM_001370259.2(MEN1):c.1102G>A (p.Ala368Thr) rs1114167473
NM_001370259.2(MEN1):c.1102G>C (p.Ala368Pro) rs1114167473
NM_001370259.2(MEN1):c.1127T>C (p.Leu376Pro) rs1114167471
NM_001370259.2(MEN1):c.112T>C (p.Ser38Pro)
NM_001370259.2(MEN1):c.124G>C (p.Gly42Arg)
NM_001370259.2(MEN1):c.1258A>T (p.Ile420Phe) rs1114167526
NM_001370259.2(MEN1):c.1259T>G (p.Ile420Ser) rs1114167539
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.1279A>C (p.Ser427Arg) rs1555164245
NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg) rs1114167528
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His) rs1592636161
NM_001370259.2(MEN1):c.1351-2A>C rs1060499986
NM_001370259.2(MEN1):c.1355G>T (p.Arg452Leu)
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp) rs778670301
NM_001370259.2(MEN1):c.143T>C (p.Leu48Pro) rs1592660057
NM_001370259.2(MEN1):c.1539del (p.Arg516fs) rs1592631908
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.1669A>G (p.Lys557Glu) rs1114167517
NM_001370259.2(MEN1):c.1682T>G (p.Met561Arg)
NM_001370259.2(MEN1):c.1708_1728del (p.Ile570_Lys576del) rs1555163115
NM_001370259.2(MEN1):c.1710del (p.Asn571fs)
NM_001370259.2(MEN1):c.1725del (p.Lys576fs) rs1555163124
NM_001370259.2(MEN1):c.1730T>C (p.Leu577Pro) rs794728634
NM_001370259.2(MEN1):c.249_266del (p.Ser84_Leu89del)
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
NM_001370259.2(MEN1):c.431T>G (p.Phe144Cys)
NM_001370259.2(MEN1):c.473C>A (p.Ala158Asp) rs794728617
NM_001370259.2(MEN1):c.514G>T (p.Asp172Tyr) rs1114167494
NM_001370259.2(MEN1):c.515A>T (p.Asp172Val) rs794728618
NM_001370259.2(MEN1):c.530T>G (p.Leu177Arg)
NM_001370259.2(MEN1):c.541C>G (p.His181Asp)
NM_001370259.2(MEN1):c.542A>G (p.His181Arg) rs1941861451
NM_001370259.2(MEN1):c.654G>T (p.Arg218=)
NM_001370259.2(MEN1):c.658T>C (p.Trp220Arg) rs1085307971
NM_001370259.2(MEN1):c.662T>C (p.Leu221Pro) rs2136143369
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg) rs1592649108
NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr) rs794728624
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) rs386134259
NM_001370259.2(MEN1):c.776T>C (p.Leu259Pro) rs2136139920
NM_001370259.2(MEN1):c.788T>C (p.Leu263Pro) rs1114167502
NM_001370259.2(MEN1):c.824+1G>C rs1060499976
NM_001370259.2(MEN1):c.825-1G>A rs1114167505
NM_001370259.2(MEN1):c.830C>A (p.Pro277His) rs1060499973
NM_001370259.2(MEN1):c.841G>A (p.Gly281Arg) rs1114167493
NM_001370259.2(MEN1):c.851C>T (p.Ala284Val)
NM_001370259.2(MEN1):c.912G>A (p.Lys304=) rs1592646211
NM_001370259.2(MEN1):c.913-1G>A rs1057518572
NM_001370259.2(MEN1):c.913-2A>G rs1114167498
NM_001370259.2(MEN1):c.922T>C (p.Ser308Pro) rs1064793169
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr) rs2136120898
NM_001370259.2(MEN1):c.950A>G (p.His317Arg) rs1114167495
NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg)

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