ClinVar Miner

List of variants studied for Carney complex by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303 0.00002
NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln) rs121434590 0.00001
NM_002734.5(PRKAR1A):c.1A>G (p.Met1Val) rs281864779
NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs) rs281864790
NM_002734.5(PRKAR1A):c.623del (p.Gly208fs) rs727503379
NM_002734.5(PRKAR1A):c.708+1G>T rs281864798
NM_002734.5(PRKAR1A):c.761_762del (p.Ser254fs)
NM_002734.5(PRKAR1A):c.786_787delinsCT (p.Trp262_Glu263delinsCysTer) rs281864785
NM_002734.5(PRKAR1A):c.891+3A>G rs281864799

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