ClinVar Miner

List of variants studied for Carney complex by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 103
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HGVS dbSNP
NC_000017.10:g.(?_66508520)_(66526600_?)del
NC_000017.10:g.(?_66511525)_(66525142_?)del
NC_000017.10:g.(?_66511535)_(66526596_?)del
NM_002734.4(PRKAR1A):c.177+1G>A rs1555811753
NM_002734.4(PRKAR1A):c.177+7A>G rs1555811756
NM_002734.4(PRKAR1A):c.441-5T>C rs771949207
NM_002734.4(PRKAR1A):c.441-5T>G rs771949207
NM_002734.4(PRKAR1A):c.502+1G>A rs1555813578
NM_002734.4(PRKAR1A):c.550-6C>T rs1555814031
NM_002734.4(PRKAR1A):c.769+3G>A rs1555814484
NM_002734.4(PRKAR1A):c.891+6G>A rs1222751049
NM_002734.4(PRKAR1A):c.891+6G>T
NM_002734.4(PRKAR1A):c.892-5T>C rs1181021204
NM_002734.4(PRKAR1A):c.973+4T>G rs1555815055
NM_002734.4(PRKAR1A):c.974-6C>A rs745570426
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.1031C>T (p.Pro344Leu)
NM_212472.2(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504
NM_212472.2(PRKAR1A):c.1042G>A (p.Val348Ile) rs772571340
NM_212472.2(PRKAR1A):c.1062A>G (p.Arg354=)
NM_212472.2(PRKAR1A):c.1079G>T (p.Gly360Val)
NM_212472.2(PRKAR1A):c.1081C>G (p.Pro361Ala)
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)
NM_212472.2(PRKAR1A):c.13A>C (p.Ser5Arg)
NM_212472.2(PRKAR1A):c.151A>G (p.Arg51Gly) rs967277610
NM_212472.2(PRKAR1A):c.155A>G (p.Glu52Gly)
NM_212472.2(PRKAR1A):c.166A>G (p.Arg56Gly)
NM_212472.2(PRKAR1A):c.178-3C>T
NM_212472.2(PRKAR1A):c.196C>A (p.Gln66Lys)
NM_212472.2(PRKAR1A):c.19G>A (p.Ala7Thr) rs369210646
NM_212472.2(PRKAR1A):c.218C>G (p.Thr73Ser)
NM_212472.2(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303
NM_212472.2(PRKAR1A):c.221G>C (p.Arg74Pro)
NM_212472.2(PRKAR1A):c.25A>G (p.Ser9Gly)
NM_212472.2(PRKAR1A):c.260C>T (p.Pro87Leu)
NM_212472.2(PRKAR1A):c.271G>A (p.Val91Ile) rs759197325
NM_212472.2(PRKAR1A):c.280_282AGG[1] (p.Arg97del)
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.317C>T (p.Thr106Met)
NM_212472.2(PRKAR1A):c.320A>C (p.Glu107Ala)
NM_212472.2(PRKAR1A):c.329C>T (p.Ala110Val) rs1194755479
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)
NM_212472.2(PRKAR1A):c.35C>G (p.Ala12Gly)
NM_212472.2(PRKAR1A):c.360A>G (p.Lys120=) rs1555813428
NM_212472.2(PRKAR1A):c.424_426GAT[1] (p.Asp143del)
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.478G>A (p.Ala160Thr) rs765675434
NM_212472.2(PRKAR1A):c.489T>G (p.Thr163=) rs143672551
NM_212472.2(PRKAR1A):c.4G>C (p.Glu2Gln)
NM_212472.2(PRKAR1A):c.502+2dup rs1555813585
NM_212472.2(PRKAR1A):c.506A>G (p.Asp169Gly)
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.535C>G (p.Gln179Glu)
NM_212472.2(PRKAR1A):c.545C>T (p.Thr182Met) rs199801675
NM_212472.2(PRKAR1A):c.54T>C (p.Cys18=) rs1555811690
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)
NM_212472.2(PRKAR1A):c.571G>A (p.Ala191Thr) rs1555814054
NM_212472.2(PRKAR1A):c.577A>G (p.Ser193Gly)
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)
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.693T>C (p.Tyr231=) rs1555814113
NM_212472.2(PRKAR1A):c.71A>G (p.Lys24Arg) rs763158372
NM_212472.2(PRKAR1A):c.733A>G (p.Met245Val)
NM_212472.2(PRKAR1A):c.73C>T (p.His25Tyr)
NM_212472.2(PRKAR1A):c.761C>G (p.Ser254Cys) rs1555814475
NM_212472.2(PRKAR1A):c.764_768del (p.Ile255fs) rs1555814477
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.812dup (p.Leu271fs) rs1568701362
NM_212472.2(PRKAR1A):c.838C>G (p.Gln280Glu) rs1568701408
NM_212472.2(PRKAR1A):c.850G>A (p.Val284Met)
NM_212472.2(PRKAR1A):c.85G>T (p.Ala29Ser) rs760726941
NM_212472.2(PRKAR1A):c.86C>T (p.Ala29Val)
NM_212472.2(PRKAR1A):c.87G>A (p.Ala29=) rs3730349
NM_212472.2(PRKAR1A):c.892-26_905del rs1568702458
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)
NM_212472.2(PRKAR1A):c.972T>C (p.Phe324=)
NM_212472.2(PRKAR1A):c.973+3A>T rs745972497

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