ClinVar Miner

List of variants in gene PRKAR1A reported by OMIM

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303 0.00002
NM_002734.5(PRKAR1A):c.-7+1G>A rs587776773
NM_002734.5(PRKAR1A):c.1004G>C (p.Arg335Pro) rs387906694
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_002734.5(PRKAR1A):c.1117T>C (p.Tyr373His) rs387906693
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.618_621del (p.Ile206fs) rs281864791
NM_002734.5(PRKAR1A):c.623del (p.Gly208fs) rs727503379
NM_002734.5(PRKAR1A):c.708+1G>T rs281864798
NM_002734.5(PRKAR1A):c.709-7_709-2del rs281864801
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
NM_002734.5(PRKAR1A):c.892-1G>A rs587776774
NM_002734.5(PRKAR1A):c.980T>C (p.Ile327Thr) rs387906695
PRKAR1A, 16-BP DEL

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