ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_000244.3(MEN1):c.1028T>C (p.Leu343Pro) rs1114167480
NM_000244.3(MEN1):c.1064+1G>C rs1114167489
NM_000244.3(MEN1):c.1079G>A (p.Arg360Gln) rs1114167474
NM_000244.3(MEN1):c.1117G>A (p.Ala373Thr) rs1114167473
NM_000244.3(MEN1):c.1117G>C (p.Ala373Pro) rs1114167473
NM_000244.3(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_000244.3(MEN1):c.1142T>C (p.Leu381Pro) rs1114167471
NM_000244.3(MEN1):c.1273A>T (p.Ile425Phe) rs1114167526
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
NM_000244.3(MEN1):c.1296T>A (p.Ser432Arg) rs1114167528
NM_000244.3(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_000244.3(MEN1):c.1679G>A (p.Ser560Asn) rs863224527
NM_000244.3(MEN1):c.1684A>G (p.Lys562Glu) rs1114167517
NM_000244.3(MEN1):c.1723_1743del (p.Ile575_Lys581del) rs1555163115
NM_000244.3(MEN1):c.1740del (p.Lys581fs) rs1555163124
NM_000244.3(MEN1):c.1745T>C (p.Leu582Pro) rs794728634
NM_000244.3(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_000244.3(MEN1):c.461-2A>G rs886042035
NM_000244.3(MEN1):c.529G>T (p.Asp177Tyr) rs1114167494
NM_000244.3(MEN1):c.530A>T (p.Asp177Val) rs794728618
NM_000244.3(MEN1):c.541G>C (p.Ala181Pro) rs376872829
NM_000244.3(MEN1):c.683T>C (p.Leu228Pro) rs886039415
NM_000244.3(MEN1):c.718G>A (p.Glu240Lys) rs1114167488
NM_000244.3(MEN1):c.737G>A (p.Cys246Tyr) rs794728624
NM_000244.3(MEN1):c.803T>C (p.Leu268Pro) rs1114167502
NM_000244.3(MEN1):c.839+1G>C rs1060499976
NM_000244.3(MEN1):c.840-1G>A rs1114167505
NM_000244.3(MEN1):c.845C>A (p.Pro282His) rs1060499973
NM_000244.3(MEN1):c.856G>A (p.Gly286Arg) rs1114167493
NM_000244.3(MEN1):c.928-2A>G rs1114167498
NM_000244.3(MEN1):c.937T>C (p.Ser313Pro) rs1064793169
NM_000244.3(MEN1):c.965A>G (p.His322Arg) rs1114167495

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