ClinVar Miner

List of variants in gene PRKAR1A reported as pathogenic for Carney complex

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303 0.00002
NC_000017.10:g.(?_66518887)_(66519967_?)del
NC_000017.11:g.(?_68512379)_(68515586_?)del
NC_000017.11:g.(?_68512379)_(68524087_?)del
NC_000017.11:g.(?_68522746)_(68530459_?)del
NM_002734.4(PRKAR1A):c.770_771del rs2085876656
NM_002734.5(PRKAR1A):c.1054C>T (p.Arg352Ter)
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_002734.5(PRKAR1A):c.124C>T (p.Arg42Ter) rs281864782
NM_002734.5(PRKAR1A):c.177+1G>A rs1555811753
NM_002734.5(PRKAR1A):c.190_203del (p.Gln64fs) rs2143272157
NM_002734.5(PRKAR1A):c.1A>G (p.Met1Val) rs281864779
NM_002734.5(PRKAR1A):c.221_230del (p.Arg74fs) rs2085657588
NM_002734.5(PRKAR1A):c.286C>T (p.Arg96Ter) rs281864783
NM_002734.5(PRKAR1A):c.289C>T (p.Arg97Ter) rs1555813217
NM_002734.5(PRKAR1A):c.330_338dup (p.Tyr113Ter) rs2143275431
NM_002734.5(PRKAR1A):c.340del (p.Val114fs) rs2143275771
NM_002734.5(PRKAR1A):c.431_440del (p.Asn144fs) rs2085693506
NM_002734.5(PRKAR1A):c.440+1G>A rs2143289454
NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter) rs886041228
NM_002734.5(PRKAR1A):c.479del (p.Ala160fs) rs2143293708
NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs) rs281864790
NM_002734.5(PRKAR1A):c.493_497delinsGGCCTCTGTAAGGTAAGG (p.Ile165fs)
NM_002734.5(PRKAR1A):c.502+1G>A rs1555813578
NM_002734.5(PRKAR1A):c.502+1G>C rs1555813578
NM_002734.5(PRKAR1A):c.502+2T>G
NM_002734.5(PRKAR1A):c.531_534del (p.Asp178fs) rs2085739247
NM_002734.5(PRKAR1A):c.535C>T (p.Gln179Ter) rs141913727
NM_002734.5(PRKAR1A):c.545dup (p.Asp183fs) rs2143307557
NM_002734.5(PRKAR1A):c.590dup (p.Gly198fs) rs2143322263
NM_002734.5(PRKAR1A):c.623del (p.Gly208fs) rs727503379
NM_002734.5(PRKAR1A):c.629del (p.Pro210fs) rs2143322920
NM_002734.5(PRKAR1A):c.662_663del (p.Val221fs) rs1568698487
NM_002734.5(PRKAR1A):c.671G>A (p.Trp224Ter) rs1568698504
NM_002734.5(PRKAR1A):c.682C>T (p.Arg228Ter) rs281864784
NM_002734.5(PRKAR1A):c.708+1G>T rs281864798
NM_002734.5(PRKAR1A):c.709-7_709-2del rs281864801
NM_002734.5(PRKAR1A):c.715A>G (p.Thr239Ala)
NM_002734.5(PRKAR1A):c.718dup (p.Leu240fs) rs2143350378
NM_002734.5(PRKAR1A):c.738T>G (p.Tyr246Ter) rs886041351
NM_002734.5(PRKAR1A):c.761_762del (p.Ser254fs)
NM_002734.5(PRKAR1A):c.763_766del (p.Ser254_Ile255insTer)
NM_002734.5(PRKAR1A):c.764_768del (p.Ile255fs) rs1555814477
NM_002734.5(PRKAR1A):c.786G>A (p.Trp262Ter)
NM_002734.5(PRKAR1A):c.786_787delinsCT (p.Trp262_Glu263delinsCysTer) rs281864785
NM_002734.5(PRKAR1A):c.787G>T (p.Glu263Ter)
NM_002734.5(PRKAR1A):c.796dup (p.Thr266fs)
NM_002734.5(PRKAR1A):c.812dup (p.Leu271fs) rs1568701362
NM_002734.5(PRKAR1A):c.877T>A (p.Phe293Ile)
NM_002734.5(PRKAR1A):c.891+3A>G rs281864799
NM_002734.5(PRKAR1A):c.926_930del (p.Asn309fs) rs2143383396
NM_002734.5(PRKAR1A):c.932_933del (p.Glu311fs)
NM_002734.5(PRKAR1A):c.940G>T (p.Glu314Ter)
NM_002734.5(PRKAR1A):c.97del (p.Asp33fs) rs2143151469
NM_002734.5(PRKAR1A):c.998del (p.Arg333fs)
NM_212472.2(PRKAR1A):c.178_348del (p.Glu60_Lys116del)

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