ClinVar Miner

List of variants studied for Multiple endocrine neoplasia, type 1 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.492C>T (p.Ala164=) rs146759807 0.00010
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter) rs1060499974 0.00001
NM_001370259.2(MEN1):c.1013dup (p.Gln339fs) rs386134245
NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter) rs1114167482
NM_001370259.2(MEN1):c.1043T>A (p.Ile348Asn)
NM_001370259.2(MEN1):c.1045C>T (p.Gln349Ter) rs2136117686
NM_001370259.2(MEN1):c.1063del (p.Arg355fs) rs386134246
NM_001370259.2(MEN1):c.1102del (p.Ala368fs) rs2136110242
NM_001370259.2(MEN1):c.1174dup (p.Glu392fs) rs386134247
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.1340T>C (p.Phe447Ser) rs1941604532
NM_001370259.2(MEN1):c.134A>T (p.Glu45Val)
NM_001370259.2(MEN1):c.1375_1391dup (p.Ala467fs) rs2136092832
NM_001370259.2(MEN1):c.1400_1413del (p.Ala467fs) rs1592633463
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter) rs863224526
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.1564dup (p.Val522fs) rs1941522995
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.1715C>A (p.Ser572Ter)
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.211_212del (p.Pro71fs) rs386134251
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter) rs1555166567
NM_001370259.2(MEN1):c.249G>A (p.Leu83=) rs386134252
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_001370259.2(MEN1):c.252dup (p.Ile85fs) rs386134253
NM_001370259.2(MEN1):c.274del (p.Arg92fs) rs2136186754
NM_001370259.2(MEN1):c.307del (p.Leu103fs) rs794728639
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
NM_001370259.2(MEN1):c.402del (p.Phe134fs) rs397515385
NM_001370259.2(MEN1):c.417C>G (p.His139Gln) rs386134254
NM_001370259.2(MEN1):c.465_466insAATT (p.Gly156fs) rs386134255
NM_001370259.2(MEN1):c.466G>C (p.Gly156Arg) rs1085307471
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.542A>G (p.His181Arg) rs1941861451
NM_001370259.2(MEN1):c.594G>A (p.Trp198Ter) rs104894257
NM_001370259.2(MEN1):c.649_654+2del rs386134258
NM_001370259.2(MEN1):c.654+18C>T rs180737290
NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter) rs386134259
NM_001370259.2(MEN1):c.772C>T (p.Gln258Ter) rs886039416
NM_001370259.2(MEN1):c.783+1G>A rs794728652
NM_001370259.2(MEN1):c.796del (p.Leu266fs)
NM_001370259.2(MEN1):c.912+1G>A rs398124437
NM_001370259.2(MEN1):c.912+2T>A
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.955dup (p.Tyr319fs) rs386134261

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