ClinVar Miner

List of variants reported as likely pathogenic for Cushing syndrome by Invitae

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
Download table as spreadsheet
HGVS dbSNP
NC_000017.10:g.(?_7571720)_(7573008_?)del
NC_000017.10:g.(?_7572921)_(7574039_?)del
NM_000244.3(MEN1):c.113C>T (p.Ser38Phe) rs794728616
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.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.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.35C>T (p.Pro12Leu) rs794728614
NM_000244.3(MEN1):c.461-2A>G rs886042035
NM_000244.3(MEN1):c.541G>C (p.Ala181Pro) rs376872829
NM_000244.3(MEN1):c.670-15_673del
NM_000244.3(MEN1):c.736T>C (p.Cys246Arg)
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_000546.5(TP53):c.-202_-29+?del
NM_000546.5(TP53):c.1060C>T (p.Gln354Ter) rs755394212
NM_000546.5(TP53):c.283_375+21del114 rs1555526462
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.375+1G>C
NM_000546.5(TP53):c.375+2T>A rs1555526469
NM_000546.5(TP53):c.375+2T>C rs1555526469
NM_000546.5(TP53):c.375G>T (p.Thr125=) rs55863639
NM_000546.5(TP53):c.376-1G>A rs868137297
NM_000546.5(TP53):c.376-2A>G rs786202799
NM_000546.5(TP53):c.376-2A>T rs786202799
NM_000546.5(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.5(TP53):c.412G>C (p.Ala138Pro) rs28934875
NM_000546.5(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.5(TP53):c.532C>G (p.His178Asp) rs1064795203
NM_000546.5(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.5(TP53):c.559+1G>T
NM_000546.5(TP53):c.560-4_560-2delTTA rs1060501212
NM_000546.5(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.5(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.5(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.5(TP53):c.736A>G (p.Met246Val) rs483352695
NM_000546.5(TP53):c.737T>A (p.Met246Lys) rs587780074
NM_000546.5(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.5(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.5(TP53):c.761_763TCA[1] (p.Ile255del) rs1064794309
NM_000546.5(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.5(TP53):c.782+2_782+6delTCAGG rs1567548832
NM_000546.5(TP53):c.783-1G>A rs1555525367
NM_000546.5(TP53):c.783-2A>G rs1060501207
NM_000546.5(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.5(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.5(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_000546.5(TP53):c.919+2T>G rs1131691016
NM_000546.5(TP53):c.920-1G>C rs587781702
NM_000546.5(TP53):c.97-1G>A
NM_000546.5(TP53):c.97-1G>T
NM_000546.5(TP53):c.993G>A (p.Gln331=) rs11575996
NM_001126118.1(TP53):c.258+1dup rs1555526470
NM_002734.4(PRKAR1A):c.892-26_905del rs1568702458

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.