ClinVar Miner

List of variants studied for Multiple endocrine neoplasia, type 1 by Illumina Laboratory Services, Illumina

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.1254C>T (p.Asp418=) rs2071313 0.30843
NM_001370259.2(MEN1):c.435C>T (p.Ser145=) rs61736636 0.02784
NM_001370259.2(MEN1):c.*302C>T rs1804849 0.01607
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_001370259.2(MEN1):c.*307T>G rs1804848 0.00855
NM_001370259.2(MEN1):c.*185C>T rs111895237 0.00133
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00119
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_001370259.2(MEN1):c.*272T>C rs563783609 0.00051
NM_001370259.2(MEN1):c.*470A>G rs778272737 0.00048
NM_001370259.2(MEN1):c.1049+9C>T rs200517349 0.00048
NM_001370259.2(MEN1):c.*794G>A rs117705251 0.00020
NM_001370259.2(MEN1):c.762G>A (p.Leu254=) rs199909967 0.00018
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp) rs375804228 0.00015
NM_001370259.2(MEN1):c.1351-4C>T rs764408631 0.00014
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679 0.00012
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu) rs141679530 0.00011
NM_001370259.2(MEN1):c.*438C>T rs886048474 0.00008
NM_001370259.2(MEN1):c.1003C>A (p.Arg335=) rs371364206 0.00006
NM_001370259.2(MEN1):c.753C>T (p.Thr251=) rs763326062 0.00004
NM_001370259.2(MEN1):c.774G>C (p.Gln258His) rs374659656 0.00004
NM_001370259.2(MEN1):c.941G>A (p.Arg314Gln) rs771645621 0.00004
NM_001370259.2(MEN1):c.*693T>C rs1229690026 0.00003
NM_001370259.2(MEN1):c.*104C>T rs886048477 0.00001
NM_001370259.2(MEN1):c.*400G>A rs1351825181 0.00001
NM_001370259.2(MEN1):c.*89G>A rs886048478 0.00001
NM_001370259.2(MEN1):c.570G>A (p.Gly190=) rs547249181 0.00001
NM_000244.4(MEN1):c.-35A>C rs679946
NM_000244.4(MEN1):c.-35A>T rs679946
NM_001370259.2(MEN1):c.*126C>T rs138595686
NM_001370259.2(MEN1):c.*245C>T rs1941463518
NM_001370259.2(MEN1):c.*341C>G rs892949876
NM_001370259.2(MEN1):c.*373G>C rs886048476
NM_001370259.2(MEN1):c.*392G>A rs886048475
NM_001370259.2(MEN1):c.1186-10C>T rs762303621
NM_001370259.2(MEN1):c.1414G>C (p.Gly472Arg) rs1941555781
NM_001370259.2(MEN1):c.274C>A (p.Arg92Ser) rs1488275961
NM_001370259.2(MEN1):c.327A>C (p.Glu109Asp) rs773976527
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser) rs541476418
NM_001370259.2(MEN1):c.643G>A (p.Val215Met) rs794728621
NM_001370259.2(MEN1):c.655-6C>G rs77461664
NM_001370259.2(MEN1):c.655-6C>T rs77461664
NM_001370259.2(MEN1):c.849G>T (p.Leu283=) rs1592646641
NM_001370259.2(MEN1):c.965T>C (p.Met322Thr) rs1941725569
NM_130799.2(MEN1):c.-94G>A rs886048480

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