ClinVar Miner

List of variants studied for Carney complex by GeneReviews

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NC_000017.11:g.(?_68512379)_(68512548_?)del
NC_000017.11:g.(?_68512379)_(68533431_?)del
NC_000017.11:g.(?_68515394)_(68515576_?)del
NC_000017.11:g.(?_68528870)_(68530449_?)del
NM_002734.4(PRKAR1A):c.101_105del (p.Ser34fs) rs281864788
NM_002734.4(PRKAR1A):c.109C>T (p.Gln37Ter) rs281864781
NM_002734.4(PRKAR1A):c.124C>T (p.Arg42Ter) rs281864782
NM_002734.4(PRKAR1A):c.139del (p.Met47fs) rs281864789
NM_002734.4(PRKAR1A):c.177+3A>G rs797044568
NM_002734.4(PRKAR1A):c.178-2A>G rs281864796
NM_002734.4(PRKAR1A):c.1A>G (p.Met1Val) rs281864779
NM_002734.4(PRKAR1A):c.286C>T (p.Arg96Ter) rs281864783
NM_002734.4(PRKAR1A):c.348+1G>C rs281864797
NM_002734.4(PRKAR1A):c.489_490TG[1] (p.Val164fs) rs281864790
NM_002734.4(PRKAR1A):c.566_567delinsCAC (p.Glu189fs) rs281864792
NM_002734.4(PRKAR1A):c.638C>A (p.Ala213Asp) rs281864786
NM_002734.4(PRKAR1A):c.682C>T (p.Arg228Ter) rs281864784
NM_002734.4(PRKAR1A):c.693dup (p.Arg232Ter) rs281864793
NM_002734.4(PRKAR1A):c.708+1G>T rs281864798
NM_002734.4(PRKAR1A):c.711_712dup (p.Ser238fs) rs281864794
NM_002734.4(PRKAR1A):c.786_787delinsCT (p.Trp262_Glu263delinsCysTer) rs281864785
NM_002734.4(PRKAR1A):c.82C>T (p.Gln28Ter) rs281864780
NM_002734.4(PRKAR1A):c.846_847insA (p.Val283fs) rs281864795
NM_002734.4(PRKAR1A):c.85_95del (p.Ala29fs) rs281864787
NM_002734.4(PRKAR1A):c.891+3A>G rs281864799
NM_212472.2(PRKAR1A):c.178_348del171 (p.Glu60_Lys116del) rs1555813158
NM_212472.2(PRKAR1A):c.550-9_550-2del rs281864800

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