ClinVar Miner

List of variants in gene MEN1 reported as likely pathogenic for Cushing syndrome

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_000244.3(MEN1):c.1028dup (p.Gln344fs) rs386134245
NM_000244.3(MEN1):c.1064+2T>C rs1555164946
NM_000244.3(MEN1):c.1078del (p.Arg360fs) rs386134246
NM_000244.3(MEN1):c.1132C>T (p.Pro378Ser)
NM_000244.3(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_000244.3(MEN1):c.1189dup (p.Glu397fs) rs386134247
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
NM_000244.3(MEN1):c.1323G>T (p.Trp441Cys) rs398124435
NM_000244.3(MEN1):c.1326dup (p.Thr443fs) rs1555164184
NM_000244.3(MEN1):c.1343C>A (p.Ser448Tyr) rs1060499981
NM_000244.3(MEN1):c.134A>G (p.Glu45Gly)
NM_000244.3(MEN1):c.1365+2T>C rs1555164115
NM_000244.3(MEN1):c.1366-1G>A rs794728629
NM_000244.3(MEN1):c.1366-1G>C rs794728629
NM_000244.3(MEN1):c.1366-2A>G rs1060499986
NM_000244.3(MEN1):c.1679G>A (p.Ser560Asn) rs863224527
NM_000244.3(MEN1):c.1754del (p.Thr585fs) rs864622617
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.1A>T (p.Met1Leu) rs386134250
NM_000244.3(MEN1):c.252dup (p.Ile85fs) rs386134253
NM_000244.3(MEN1):c.35C>T (p.Pro12Leu) rs794728614
NM_000244.3(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_000244.3(MEN1):c.417C>G (p.His139Gln) rs386134254
NM_000244.3(MEN1):c.461-2A>G rs886042035
NM_000244.3(MEN1):c.480_481insAATT (p.Gly161fs) rs386134255
NM_000244.3(MEN1):c.541G>C (p.Ala181Pro) rs376872829
NM_000244.3(MEN1):c.664_669+2delGAGCGGGT rs386134258
NM_000244.3(MEN1):c.670-15_673del
NM_000244.3(MEN1):c.736T>C (p.Cys246Arg)
NM_000244.3(MEN1):c.773C>A (p.Ser258Ter) rs386134259
NM_000244.3(MEN1):c.777_783dup (p.Leu262fs) rs1555165488
NM_000244.3(MEN1):c.799-1G>C rs1555165377
NM_000244.3(MEN1):c.866C>A (p.Ala289Glu) rs1565645563
NM_000244.3(MEN1):c.927+1G>C rs398124437
NM_000244.3(MEN1):c.970dup (p.Tyr324fs) rs386134261

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