ClinVar Miner

List of variants in gene PRKAR1A studied for Cushing syndrome

Included ClinVar conditions (24):
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Gene type:
ClinVar version:
Total variants: 163
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HGVS dbSNP
NC_000017.10:g.(?_66511525)_(66525142_?)del
NC_000017.11:g.(?_68512379)_(68512548_?)del
NC_000017.11:g.(?_68515394)_(68515576_?)del
NM_002734.4(PRKAR1A):c.-16C>A rs886053305
NM_002734.4(PRKAR1A):c.-25C>T rs546338099
NM_002734.4(PRKAR1A):c.-53C>T rs886053304
NM_002734.4(PRKAR1A):c.-6-7C>T rs373646911
NM_002734.4(PRKAR1A):c.-7+1G>A rs587776773
NM_002734.4(PRKAR1A):c.-75G>T rs559757120
NM_002734.4(PRKAR1A):c.101C>G (p.Ser34Cys)
NM_002734.4(PRKAR1A):c.101_105del (p.Ser34fs) rs281864788
NM_002734.4(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504
NM_002734.4(PRKAR1A):c.109C>T (p.Gln37Ter) rs281864781
NM_002734.4(PRKAR1A):c.121G>A (p.Ala41Thr) rs1356757839
NM_002734.4(PRKAR1A):c.124C>T (p.Arg42Ter) rs281864782
NM_002734.4(PRKAR1A):c.125G>A (p.Arg42Gln)
NM_002734.4(PRKAR1A):c.132G>A (p.Glu44=) rs145590804
NM_002734.4(PRKAR1A):c.135A>G (p.Arg45=) rs1060504125
NM_002734.4(PRKAR1A):c.139del (p.Met47fs) rs281864789
NM_002734.4(PRKAR1A):c.13A>C (p.Ser5Arg)
NM_002734.4(PRKAR1A):c.151A>G (p.Arg51Gly)
NM_002734.4(PRKAR1A):c.155A>G (p.Glu52Gly)
NM_002734.4(PRKAR1A):c.156A>G (p.Glu52=) rs141432364
NM_002734.4(PRKAR1A):c.166A>G (p.Arg56Gly)
NM_002734.4(PRKAR1A):c.177+1G>A rs1555811753
NM_002734.4(PRKAR1A):c.177+3A>G rs797044568
NM_002734.4(PRKAR1A):c.177+7A>G rs1555811756
NM_002734.4(PRKAR1A):c.178-2A>G rs281864796
NM_002734.4(PRKAR1A):c.178-3C>T
NM_002734.4(PRKAR1A):c.178-8T>G rs771192586
NM_002734.4(PRKAR1A):c.189A>G (p.Lys63=) rs1060504126
NM_002734.4(PRKAR1A):c.18C>T (p.Thr6=) rs755978926
NM_002734.4(PRKAR1A):c.196C>A (p.Gln66Lys)
NM_002734.4(PRKAR1A):c.19G>A (p.Ala7Thr) rs369210646
NM_002734.4(PRKAR1A):c.1A>G (p.Met1Val) rs281864779
NM_002734.4(PRKAR1A):c.204G>A (p.Leu68=) rs74863634
NM_002734.4(PRKAR1A):c.218C>G (p.Thr73Ser)
NM_002734.4(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303
NM_002734.4(PRKAR1A):c.221G>A (p.Arg74His) rs200069356
NM_002734.4(PRKAR1A):c.221G>C (p.Arg74Pro)
NM_002734.4(PRKAR1A):c.25A>G (p.Ser9Gly)
NM_002734.4(PRKAR1A):c.260C>T (p.Pro87Leu)
NM_002734.4(PRKAR1A):c.271G>A (p.Val91Ile) rs759197325
NM_002734.4(PRKAR1A):c.280A>C (p.Arg94=) rs1443738914
NM_002734.4(PRKAR1A):c.280_282AGG[1] (p.Arg97del)
NM_002734.4(PRKAR1A):c.286C>T (p.Arg96Ter) rs281864783
NM_002734.4(PRKAR1A):c.287G>A (p.Arg96Gln) rs1555813215
NM_002734.4(PRKAR1A):c.289C>T (p.Arg97Ter) rs1555813217
NM_002734.4(PRKAR1A):c.296C>T (p.Ala99Val) rs1568695224
NM_002734.4(PRKAR1A):c.303C>T (p.Ser101=) rs1294747986
NM_002734.4(PRKAR1A):c.309G>A (p.Glu103=) rs746113372
NM_002734.4(PRKAR1A):c.317C>T (p.Thr106Met)
NM_002734.4(PRKAR1A):c.318G>A (p.Thr106=) rs113994213
NM_002734.4(PRKAR1A):c.320A>C (p.Glu107Ala)
NM_002734.4(PRKAR1A):c.329C>T (p.Ala110Val) rs1194755479
NM_002734.4(PRKAR1A):c.330G>A (p.Ala110=) rs371834376
NM_002734.4(PRKAR1A):c.331G>A (p.Ala111Thr) rs1472324247
NM_002734.4(PRKAR1A):c.348+1G>C rs281864797
NM_002734.4(PRKAR1A):c.349-5T>C rs1456043929
NM_002734.4(PRKAR1A):c.349-5dup rs3841514
NM_002734.4(PRKAR1A):c.355C>A (p.Pro119Thr)
NM_002734.4(PRKAR1A):c.35C>G (p.Ala12Gly)
NM_002734.4(PRKAR1A):c.360A>G (p.Lys120=) rs1555813428
NM_002734.4(PRKAR1A):c.381T>C (p.Ala127=) rs372669687
NM_002734.4(PRKAR1A):c.424_426GAT[1] (p.Asp143del)
NM_002734.4(PRKAR1A):c.441-5T>C rs771949207
NM_002734.4(PRKAR1A):c.441-5T>G rs771949207
NM_002734.4(PRKAR1A):c.441-5del rs777677808
NM_002734.4(PRKAR1A):c.464C>T (p.Ser155Leu) rs1568696484
NM_002734.4(PRKAR1A):c.46C>T (p.Arg16Ter) rs886041228
NM_002734.4(PRKAR1A):c.470C>T (p.Ser157Phe) rs776071358
NM_002734.4(PRKAR1A):c.477C>T (p.Ile159=) rs372389205
NM_002734.4(PRKAR1A):c.478G>A (p.Ala160Thr) rs765675434
NM_002734.4(PRKAR1A):c.483A>G (p.Gly161=) rs141518491
NM_002734.4(PRKAR1A):c.489T>C (p.Thr163=) rs143672551
NM_002734.4(PRKAR1A):c.489T>G (p.Thr163=) rs143672551
NM_002734.4(PRKAR1A):c.489_490TG[1] (p.Val164fs) rs281864790
NM_002734.4(PRKAR1A):c.4G>C (p.Glu2Gln)
NM_002734.4(PRKAR1A):c.502+1G>A rs1555813578
NM_002734.4(PRKAR1A):c.502+2dup rs1555813585
NM_002734.4(PRKAR1A):c.506A>G (p.Asp169Gly)
NM_002734.4(PRKAR1A):c.525T>C (p.Tyr175=) rs1168113151
NM_002734.4(PRKAR1A):c.528G>A (p.Val176=) rs752927621
NM_002734.4(PRKAR1A):c.535C>G (p.Gln179Glu)
NM_002734.4(PRKAR1A):c.535C>T (p.Gln179Ter) rs141913727
NM_002734.4(PRKAR1A):c.545C>T (p.Thr182Met) rs199801675
NM_002734.4(PRKAR1A):c.546G>A (p.Thr182=) rs117639566
NM_002734.4(PRKAR1A):c.549+10A>C rs751413552
NM_002734.4(PRKAR1A):c.54T>C (p.Cys18=) rs1555811690
NM_002734.4(PRKAR1A):c.550-6C>T rs1555814031
NM_002734.4(PRKAR1A):c.550-8C>T rs375936679
NM_002734.4(PRKAR1A):c.550-8_550-1del rs281864800
NM_002734.4(PRKAR1A):c.552C>G (p.Val184=) rs751501857
NM_002734.4(PRKAR1A):c.566_567delinsCAC (p.Glu189fs) rs281864792
NM_002734.4(PRKAR1A):c.567A>C (p.Glu189Asp) rs767405408
NM_002734.4(PRKAR1A):c.567A>G (p.Glu189=) rs767405408
NM_002734.4(PRKAR1A):c.567A>T (p.Glu189Asp)
NM_002734.4(PRKAR1A):c.571G>A (p.Ala191Thr) rs1555814054
NM_002734.4(PRKAR1A):c.577A>G (p.Ser193Gly)
NM_002734.4(PRKAR1A):c.591A>G (p.Gly197=) rs991638429
NM_002734.4(PRKAR1A):c.596G>A (p.Ser199Asn) rs755798109
NM_002734.4(PRKAR1A):c.606A>G (p.Glu202=) rs878884422
NM_002734.4(PRKAR1A):c.60C>G (p.Leu20=) rs372451862
NM_002734.4(PRKAR1A):c.623del (p.Gly208fs) rs727503379
NM_002734.4(PRKAR1A):c.626C>T (p.Thr209Ile)
NM_002734.4(PRKAR1A):c.630G>A (p.Pro210=) rs756720013
NM_002734.4(PRKAR1A):c.638C>A (p.Ala213Asp) rs281864786
NM_002734.4(PRKAR1A):c.63C>T (p.Tyr21=) rs777110464
NM_002734.4(PRKAR1A):c.64G>T (p.Val22Phe) rs878854561
NM_002734.4(PRKAR1A):c.660_661TG[1] (p.Val221fs) rs1568698487
NM_002734.4(PRKAR1A):c.671G>A (p.Trp224Ter) rs1568698504
NM_002734.4(PRKAR1A):c.675C>A (p.Gly225=) rs150244650
NM_002734.4(PRKAR1A):c.678C>T (p.Ile226=) rs200592054
NM_002734.4(PRKAR1A):c.682C>T (p.Arg228Ter) rs281864784
NM_002734.4(PRKAR1A):c.693T>C (p.Tyr231=) rs1555814113
NM_002734.4(PRKAR1A):c.693dup (p.Arg232Ter) rs281864793
NM_002734.4(PRKAR1A):c.708+1G>T rs281864798
NM_002734.4(PRKAR1A):c.709-6T>C rs1060504127
NM_002734.4(PRKAR1A):c.709-7_709-2del rs281864801
NM_002734.4(PRKAR1A):c.711_712dup (p.Ser238fs) rs281864794
NM_002734.4(PRKAR1A):c.71A>G (p.Lys24Arg) rs763158372
NM_002734.4(PRKAR1A):c.727C>A (p.Arg243=) rs770136522
NM_002734.4(PRKAR1A):c.733A>G (p.Met245Val)
NM_002734.4(PRKAR1A):c.73C>T (p.His25Tyr)
NM_002734.4(PRKAR1A):c.761C>G (p.Ser254Cys) rs1555814475
NM_002734.4(PRKAR1A):c.762T>C (p.Ser254=) rs753621663
NM_002734.4(PRKAR1A):c.764_768del (p.Ile255fs) rs1555814477
NM_002734.4(PRKAR1A):c.769+3G>A rs1555814484
NM_002734.4(PRKAR1A):c.770-9G>T rs562094333
NM_002734.4(PRKAR1A):c.778G>C (p.Asp260His) rs1255519868
NM_002734.4(PRKAR1A):c.782A>G (p.Lys261Arg) rs1568701297
NM_002734.4(PRKAR1A):c.786_787delinsCT (p.Trp262_Glu263delinsCysTer) rs281864785
NM_002734.4(PRKAR1A):c.798G>T (p.Thr266=) rs201774040
NM_002734.4(PRKAR1A):c.812dup (p.Leu271fs) rs1568701362
NM_002734.4(PRKAR1A):c.82C>T (p.Gln28Ter) rs281864780
NM_002734.4(PRKAR1A):c.838C>G (p.Gln280Glu) rs1568701408
NM_002734.4(PRKAR1A):c.846_847insA (p.Val283fs) rs281864795
NM_002734.4(PRKAR1A):c.850G>A (p.Val284Met)
NM_002734.4(PRKAR1A):c.852G>A (p.Val284=) rs771167809
NM_002734.4(PRKAR1A):c.858A>G (p.Gly286=) rs746582369
NM_002734.4(PRKAR1A):c.85G>T (p.Ala29Ser) rs760726941
NM_002734.4(PRKAR1A):c.85_95del (p.Ala29fs) rs281864787
NM_002734.4(PRKAR1A):c.86C>T (p.Ala29Val)
NM_002734.4(PRKAR1A):c.87G>A (p.Ala29=) rs3730349
NM_002734.4(PRKAR1A):c.891+3A>G rs281864799
NM_002734.4(PRKAR1A):c.891+6G>A rs1222751049
NM_002734.4(PRKAR1A):c.891+6G>T
NM_002734.4(PRKAR1A):c.892-26_905del rs1568702458
NM_002734.4(PRKAR1A):c.892-5T>C rs1181021204
NM_002734.4(PRKAR1A):c.894G>C (p.Gly298=) rs933520060
NM_002734.4(PRKAR1A):c.914G>A (p.Arg305His) rs768253469
NM_002734.4(PRKAR1A):c.94A>G (p.Lys32Glu) rs756985434
NM_002734.4(PRKAR1A):c.959C>T (p.Pro320Leu)
NM_002734.4(PRKAR1A):c.972T>C (p.Phe324=)
NM_002734.4(PRKAR1A):c.973+3A>T
NM_002734.4(PRKAR1A):c.973+4T>G rs1555815055
NM_002734.4(PRKAR1A):c.974-10C>T rs774715675
NM_002734.4(PRKAR1A):c.974-6C>A rs745570426
NM_212472.2(PRKAR1A):c.178_348del171 (p.Glu60_Lys116del) rs1555813158
PRKAR1A, 1-BP DEL, 710G
PRKAR1A, 16-BP DEL
PRKAR1A, 2-BP DEL, 576TG
PRKAR1A, 2-BP DEL, 845TC

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