ClinVar Miner

List of variants studied for Multiple endocrine neoplasia, type 1 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 17
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HGVS dbSNP
NM_000244.3(MEN1):c.-23-16C>G rs509606
NM_000244.3(MEN1):c.1185G>A (p.Pro395=) rs587780841
NM_000244.3(MEN1):c.1296T>A (p.Ser432Arg) rs1114167528
NM_000244.3(MEN1):c.1444G>T (p.Glu482Ter) rs863224526
NM_000244.3(MEN1):c.1523G>A (p.Gly508Asp) rs375804228
NM_000244.3(MEN1):c.1561del (p.Arg521fs) rs767319284
NM_000244.3(MEN1):c.1623G>A (p.Gln541=) rs1055457298
NM_000244.3(MEN1):c.1A>T (p.Met1Leu) rs386134250
NM_000244.3(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_000244.3(MEN1):c.435C>T (p.Ser145=) rs61736636
NM_000244.3(MEN1):c.843C>A (p.Tyr281Ter) rs1060503789
NM_001370259.2(MEN1):c.1136dup (p.Ala380fs) rs1592640181
NM_001370259.2(MEN1):c.1254C>T (p.Asp418=) rs2071313
NM_001370259.2(MEN1):c.355_357AAG[1] (p.Lys120del) rs794728657
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969
NM_001370259.2(MEN1):c.783+1G>C rs794728652
NM_001370259.2(MEN1):c.912G>A (p.Lys304=) rs1592646211

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