ClinVar Miner

List of variants reported as likely pathogenic for Multiple endocrine neoplasia, type 1 by Invitae

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Total variants: 16
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HGVS dbSNP
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_130799.2(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_130799.2(MEN1):c.1328C>A (p.Ser443Tyr) rs1060499981
NM_130799.2(MEN1):c.1350+2T>C rs1555164115
NM_130799.2(MEN1):c.1351-1G>A rs794728629
NM_130799.2(MEN1):c.1351-1G>C rs794728629
NM_130799.2(MEN1):c.1351-2A>G rs1060499986
NM_130799.2(MEN1):c.1660C>T (p.Gln554Ter) rs794728631
NM_130799.2(MEN1):c.1739delC (p.Thr580Argfs) rs864622617
NM_130799.2(MEN1):c.1A>T (p.Met1Leu) rs386134250
NM_130799.2(MEN1):c.35C>T (p.Pro12Leu) rs794728614
NM_130799.2(MEN1):c.446-2A>G rs886042035
NM_130799.2(MEN1):c.526G>C (p.Ala176Pro) rs376872829
NM_130799.2(MEN1):c.851C>A (p.Ala284Glu)
NM_130799.2(MEN1):c.912+1G>C rs398124437

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