ClinVar Miner

List of variants studied for Carney complex, type 1 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 211
Download table as spreadsheet
HGVS dbSNP
NC_000017.11:g.(?_68512379)_(68515586_?)del
NC_000017.11:g.(?_68512379)_(68524087_?)del
NC_000017.11:g.(?_68512379)_(68530459_?)del
NC_000017.11:g.(?_68515384)_(68529001_?)del
NC_000017.11:g.(?_68515394)_(68530455_?)del
NC_000017.11:g.(?_68522746)_(68530459_?)del
NC_000017.11:g.68515571_68515576dup
NC_000017.11:g.68528870_68528871del
NM_002734.5(PRKAR1A):c.-11C>T
NM_002734.5(PRKAR1A):c.-15C>A
NM_002734.5(PRKAR1A):c.-6-4G>C rs190803359
NM_002734.5(PRKAR1A):c.-6-5C>T rs750536611
NM_002734.5(PRKAR1A):c.-7+1G>C
NM_002734.5(PRKAR1A):c.-7+6_-7+31del
NM_002734.5(PRKAR1A):c.-9C>G
NM_002734.5(PRKAR1A):c.1097T>G (p.Leu366Arg)
NM_002734.5(PRKAR1A):c.1098C>T (p.Leu366=) rs1600496468
NM_002734.5(PRKAR1A):c.1110C>T (p.Ile370=) rs62638722
NM_002734.5(PRKAR1A):c.122C>A (p.Ala41Asp)
NM_002734.5(PRKAR1A):c.127C>T (p.Pro43Ser)
NM_002734.5(PRKAR1A):c.137C>A (p.Pro46His)
NM_002734.5(PRKAR1A):c.139A>G (p.Met47Val) rs548529083
NM_002734.5(PRKAR1A):c.184G>A (p.Ala62Thr)
NM_002734.5(PRKAR1A):c.185C>T (p.Ala62Val)
NM_002734.5(PRKAR1A):c.206A>G (p.Gln69Arg) rs920361727
NM_002734.5(PRKAR1A):c.218C>T (p.Thr73Ile)
NM_002734.5(PRKAR1A):c.22G>A (p.Ala8Thr)
NM_002734.5(PRKAR1A):c.237G>A (p.Glu79=) rs1197286957
NM_002734.5(PRKAR1A):c.238G>T (p.Asp80Tyr)
NM_002734.5(PRKAR1A):c.23C>A (p.Ala8Asp)
NM_002734.5(PRKAR1A):c.240T>G (p.Asp80Glu)
NM_002734.5(PRKAR1A):c.25A>C (p.Ser9Arg) rs778468626
NM_002734.5(PRKAR1A):c.301A>C (p.Ser101Arg)
NM_002734.5(PRKAR1A):c.338A>G (p.Tyr113Cys)
NM_002734.5(PRKAR1A):c.378C>T (p.Ala126=) rs199974368
NM_002734.5(PRKAR1A):c.37C>T (p.Arg13Cys)
NM_002734.5(PRKAR1A):c.391G>A (p.Ala131Thr)
NM_002734.5(PRKAR1A):c.426T>A (p.Asp142Glu)
NM_002734.5(PRKAR1A):c.431_440del (p.Asn144fs)
NM_002734.5(PRKAR1A):c.436A>G (p.Arg146Gly)
NM_002734.5(PRKAR1A):c.438A>T (p.Arg146Ser)
NM_002734.5(PRKAR1A):c.502+6G>A
NM_002734.5(PRKAR1A):c.507T>A (p.Asp169Glu)
NM_002734.5(PRKAR1A):c.51A>T (p.Glu17Asp) rs771518581
NM_002734.5(PRKAR1A):c.522C>T (p.Phe174=) rs148109898
NM_002734.5(PRKAR1A):c.526G>A (p.Val176Met)
NM_002734.5(PRKAR1A):c.527T>A (p.Val176Glu)
NM_002734.5(PRKAR1A):c.531_534del (p.Asp178fs)
NM_002734.5(PRKAR1A):c.534T>G (p.Asp178Glu)
NM_002734.5(PRKAR1A):c.554A>G (p.Tyr185Cys)
NM_002734.5(PRKAR1A):c.572C>T (p.Ala191Val)
NM_002734.5(PRKAR1A):c.64G>A (p.Val22Ile)
NM_002734.5(PRKAR1A):c.658A>C (p.Asn220His)
NM_002734.5(PRKAR1A):c.683G>A (p.Arg228Gln) rs768934933
NM_002734.5(PRKAR1A):c.754A>G (p.Lys252Glu)
NM_002734.5(PRKAR1A):c.769+10A>T rs375239425
NM_002734.5(PRKAR1A):c.781A>G (p.Lys261Glu)
NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met) rs1329426125
NM_002734.5(PRKAR1A):c.810A>G (p.Ala270=) rs778165219
NM_002734.5(PRKAR1A):c.825G>A (p.Gln275=) rs1267422534
NM_002734.5(PRKAR1A):c.827T>C (p.Phe276Ser)
NM_002734.5(PRKAR1A):c.82C>G (p.Gln28Glu)
NM_002734.5(PRKAR1A):c.837G>C (p.Gly279=) rs1600492307
NM_002734.5(PRKAR1A):c.891+4A>G
NM_002734.5(PRKAR1A):c.892-6T>C rs1600494784
NM_002734.5(PRKAR1A):c.912A>G (p.Gln304=) rs200223045
NM_002734.5(PRKAR1A):c.988C>G (p.Leu330Val)
NM_002734.5(PRKAR1A):c.997C>T (p.Arg333Cys)
NM_212472.2(PRKAR1A):c.-6-4G>A rs190803359
NM_212472.2(PRKAR1A):c.-6-7C>T rs373646911
NM_212472.2(PRKAR1A):c.101C>G (p.Ser34Cys) rs944887425
NM_212472.2(PRKAR1A):c.1024C>T (p.Arg342Cys) rs146383819
NM_212472.2(PRKAR1A):c.1025G>A (p.Arg342His) rs760033566
NM_212472.2(PRKAR1A):c.1029C>T (p.Gly343=) rs1803241
NM_212472.2(PRKAR1A):c.1031C>T (p.Pro344Leu) rs1600496295
NM_212472.2(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504
NM_212472.2(PRKAR1A):c.1041C>T (p.Cys347=) rs1192354369
NM_212472.2(PRKAR1A):c.1042G>A (p.Val348Ile) rs772571340
NM_212472.2(PRKAR1A):c.1062A>G (p.Arg354=) rs763228564
NM_212472.2(PRKAR1A):c.1079G>T (p.Gly360Val) rs1600496410
NM_212472.2(PRKAR1A):c.1081C>G (p.Pro361Ala) rs1600496423
NM_212472.2(PRKAR1A):c.1088C>T (p.Ser363Leu) rs1555815165
NM_212472.2(PRKAR1A):c.1143C>G (p.Val381=) rs755043531
NM_212472.2(PRKAR1A):c.121G>A (p.Ala41Thr) rs1356757839
NM_212472.2(PRKAR1A):c.125G>A (p.Arg42Gln) rs746486900
NM_212472.2(PRKAR1A):c.132G>A (p.Glu44=) rs145590804
NM_212472.2(PRKAR1A):c.135A>G (p.Arg45=) rs1060504125
NM_212472.2(PRKAR1A):c.13A>C (p.Ser5Arg) rs1600461789
NM_212472.2(PRKAR1A):c.151A>G (p.Arg51Gly) rs967277610
NM_212472.2(PRKAR1A):c.155A>G (p.Glu52Gly) rs748547646
NM_212472.2(PRKAR1A):c.156A>G (p.Glu52=) rs141432364
NM_212472.2(PRKAR1A):c.166A>G (p.Arg56Gly) rs1471017649
NM_212472.2(PRKAR1A):c.177+1G>A rs1555811753
NM_212472.2(PRKAR1A):c.177+7A>G rs1555811756
NM_212472.2(PRKAR1A):c.178-3C>T rs745980273
NM_212472.2(PRKAR1A):c.178-8T>G rs771192586
NM_212472.2(PRKAR1A):c.189A>G (p.Lys63=) rs1060504126
NM_212472.2(PRKAR1A):c.18C>T (p.Thr6=) rs755978926
NM_212472.2(PRKAR1A):c.196C>A (p.Gln66Lys) rs1600478559
NM_212472.2(PRKAR1A):c.19G>A (p.Ala7Thr) rs369210646
NM_212472.2(PRKAR1A):c.204G>A (p.Leu68=) rs74863634
NM_212472.2(PRKAR1A):c.218C>G (p.Thr73Ser) rs769706055
NM_212472.2(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303
NM_212472.2(PRKAR1A):c.221G>A (p.Arg74His) rs200069356
NM_212472.2(PRKAR1A):c.221G>C (p.Arg74Pro) rs200069356
NM_212472.2(PRKAR1A):c.25A>G (p.Ser9Gly) rs778468626
NM_212472.2(PRKAR1A):c.260C>T (p.Pro87Leu) rs1165953688
NM_212472.2(PRKAR1A):c.271G>A (p.Val91Ile) rs759197325
NM_212472.2(PRKAR1A):c.280A>C (p.Arg94=) rs1443738914
NM_212472.2(PRKAR1A):c.280_282AGG[1] (p.Arg97del) rs1600478948
NM_212472.2(PRKAR1A):c.286C>T (p.Arg96Ter) rs281864783
NM_212472.2(PRKAR1A):c.287G>A (p.Arg96Gln) rs1555813215
NM_212472.2(PRKAR1A):c.289C>T (p.Arg97Ter) rs1555813217
NM_212472.2(PRKAR1A):c.296C>T (p.Ala99Val) rs1568695224
NM_212472.2(PRKAR1A):c.303C>T (p.Ser101=) rs1294747986
NM_212472.2(PRKAR1A):c.306T>C (p.Ala102=) rs757511127
NM_212472.2(PRKAR1A):c.309G>A (p.Glu103=) rs746113372
NM_212472.2(PRKAR1A):c.317C>T (p.Thr106Met) rs1600479149
NM_212472.2(PRKAR1A):c.318G>A (p.Thr106=) rs113994213
NM_212472.2(PRKAR1A):c.320A>C (p.Glu107Ala) rs1600479179
NM_212472.2(PRKAR1A):c.329C>T (p.Ala110Val) rs1194755479
NM_212472.2(PRKAR1A):c.330G>A (p.Ala110=) rs371834376
NM_212472.2(PRKAR1A):c.331G>A (p.Ala111Thr) rs1472324247
NM_212472.2(PRKAR1A):c.349-5T>C rs1456043929
NM_212472.2(PRKAR1A):c.355C>A (p.Pro119Thr) rs1253034687
NM_212472.2(PRKAR1A):c.35C>G (p.Ala12Gly) rs1292133703
NM_212472.2(PRKAR1A):c.360A>G (p.Lys120=) rs1555813428
NM_212472.2(PRKAR1A):c.381T>C (p.Ala127=) rs372669687
NM_212472.2(PRKAR1A):c.424_426GAT[1] (p.Asp143del) rs1308936763
NM_212472.2(PRKAR1A):c.441-5T>C rs771949207
NM_212472.2(PRKAR1A):c.441-5T>G rs771949207
NM_212472.2(PRKAR1A):c.441-5del rs777677808
NM_212472.2(PRKAR1A):c.464C>T (p.Ser155Leu) rs1568696484
NM_212472.2(PRKAR1A):c.46C>T (p.Arg16Ter) rs886041228
NM_212472.2(PRKAR1A):c.470C>T (p.Ser157Phe) rs776071358
NM_212472.2(PRKAR1A):c.477C>T (p.Ile159=) rs372389205
NM_212472.2(PRKAR1A):c.478G>A (p.Ala160Thr) rs765675434
NM_212472.2(PRKAR1A):c.483A>G (p.Gly161=) rs141518491
NM_212472.2(PRKAR1A):c.489T>C (p.Thr163=) rs143672551
NM_212472.2(PRKAR1A):c.489T>G (p.Thr163=) rs143672551
NM_212472.2(PRKAR1A):c.489_490TG[1] (p.Val164fs) rs281864790
NM_212472.2(PRKAR1A):c.4G>C (p.Glu2Gln) rs1600461762
NM_212472.2(PRKAR1A):c.502+1G>A rs1555813578
NM_212472.2(PRKAR1A):c.502+2dup rs1555813585
NM_212472.2(PRKAR1A):c.506A>G (p.Asp169Gly) rs1600484143
NM_212472.2(PRKAR1A):c.525T>C (p.Tyr175=) rs1168113151
NM_212472.2(PRKAR1A):c.528G>A (p.Val176=) rs752927621
NM_212472.2(PRKAR1A):c.530T>C (p.Ile177Thr) rs587778626
NM_212472.2(PRKAR1A):c.535C>G (p.Gln179Glu) rs141913727
NM_212472.2(PRKAR1A):c.535C>T (p.Gln179Ter) rs141913727
NM_212472.2(PRKAR1A):c.545C>T (p.Thr182Met) rs199801675
NM_212472.2(PRKAR1A):c.546G>A (p.Thr182=) rs117639566
NM_212472.2(PRKAR1A):c.549+10A>C rs751413552
NM_212472.2(PRKAR1A):c.54T>C (p.Cys18=) rs1555811690
NM_212472.2(PRKAR1A):c.550-6C>T rs1555814031
NM_212472.2(PRKAR1A):c.550-8C>T rs375936679
NM_212472.2(PRKAR1A):c.552C>G (p.Val184=) rs751501857
NM_212472.2(PRKAR1A):c.567A>C (p.Glu189Asp) rs767405408
NM_212472.2(PRKAR1A):c.567A>G (p.Glu189=) rs767405408
NM_212472.2(PRKAR1A):c.567A>T (p.Glu189Asp) rs767405408
NM_212472.2(PRKAR1A):c.571G>A (p.Ala191Thr) rs1555814054
NM_212472.2(PRKAR1A):c.577A>G (p.Ser193Gly) rs1600486090
NM_212472.2(PRKAR1A):c.591A>G (p.Gly197=) rs991638429
NM_212472.2(PRKAR1A):c.596G>A (p.Ser199Asn) rs755798109
NM_212472.2(PRKAR1A):c.606A>G (p.Glu202=) rs878884422
NM_212472.2(PRKAR1A):c.60C>G (p.Leu20=) rs372451862
NM_212472.2(PRKAR1A):c.626C>T (p.Thr209Ile) rs1600486256
NM_212472.2(PRKAR1A):c.630G>A (p.Pro210=) rs756720013
NM_212472.2(PRKAR1A):c.63C>T (p.Tyr21=) rs777110464
NM_212472.2(PRKAR1A):c.64G>T (p.Val22Phe) rs878854561
NM_212472.2(PRKAR1A):c.660_661TG[1] (p.Val221fs) rs1568698487
NM_212472.2(PRKAR1A):c.671G>A (p.Trp224Ter) rs1568698504
NM_212472.2(PRKAR1A):c.675C>A (p.Gly225=) rs150244650
NM_212472.2(PRKAR1A):c.678C>T (p.Ile226=) rs200592054
NM_212472.2(PRKAR1A):c.682C>T (p.Arg228Ter) rs281864784
NM_212472.2(PRKAR1A):c.693T>C (p.Tyr231=) rs1555814113
NM_212472.2(PRKAR1A):c.709-6T>C rs1060504127
NM_212472.2(PRKAR1A):c.71A>G (p.Lys24Arg) rs763158372
NM_212472.2(PRKAR1A):c.727C>A (p.Arg243=) rs770136522
NM_212472.2(PRKAR1A):c.733A>G (p.Met245Val) rs773430995
NM_212472.2(PRKAR1A):c.73C>T (p.His25Tyr) rs140795787
NM_212472.2(PRKAR1A):c.761C>G (p.Ser254Cys) rs1555814475
NM_212472.2(PRKAR1A):c.762T>C (p.Ser254=) rs753621663
NM_212472.2(PRKAR1A):c.764_768del (p.Ile255fs) rs1555814477
NM_212472.2(PRKAR1A):c.769+3G>A rs1555814484
NM_212472.2(PRKAR1A):c.770-9G>T rs562094333
NM_212472.2(PRKAR1A):c.778G>C (p.Asp260His) rs1255519868
NM_212472.2(PRKAR1A):c.782A>G (p.Lys261Arg) rs1568701297
NM_212472.2(PRKAR1A):c.798G>A (p.Thr266=) rs201774040
NM_212472.2(PRKAR1A):c.798G>T (p.Thr266=) rs201774040
NM_212472.2(PRKAR1A):c.812dup (p.Leu271fs) rs1568701362
NM_212472.2(PRKAR1A):c.838C>G (p.Gln280Glu) rs1568701408
NM_212472.2(PRKAR1A):c.850G>A (p.Val284Met) rs1264572252
NM_212472.2(PRKAR1A):c.852G>A (p.Val284=) rs771167809
NM_212472.2(PRKAR1A):c.858A>G (p.Gly286=) rs746582369
NM_212472.2(PRKAR1A):c.85G>T (p.Ala29Ser) rs760726941
NM_212472.2(PRKAR1A):c.86C>T (p.Ala29Val) rs763929951
NM_212472.2(PRKAR1A):c.87G>A (p.Ala29=) rs3730349
NM_212472.2(PRKAR1A):c.891+6G>A rs1222751049
NM_212472.2(PRKAR1A):c.891+6G>T rs1222751049
NM_212472.2(PRKAR1A):c.892-26_905del rs1568702458
NM_212472.2(PRKAR1A):c.892-5T>C rs1181021204
NM_212472.2(PRKAR1A):c.894G>C (p.Gly298=) rs933520060
NM_212472.2(PRKAR1A):c.914G>A (p.Arg305His) rs768253469
NM_212472.2(PRKAR1A):c.94A>G (p.Lys32Glu) rs756985434
NM_212472.2(PRKAR1A):c.959C>T (p.Pro320Leu) rs779141257
NM_212472.2(PRKAR1A):c.972T>C (p.Phe324=) rs889274189
NM_212472.2(PRKAR1A):c.973+3A>T rs745972497
NM_212472.2(PRKAR1A):c.973+4T>G rs1555815055
NM_212472.2(PRKAR1A):c.974-10C>T rs774715675
NM_212472.2(PRKAR1A):c.974-6C>A rs745570426

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.