ClinVar Miner

List of variants in gene PRKAR1A reported as pathogenic by GeneDx

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_002734.5(PRKAR1A):c.-6-2A>G rs2143148184
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_002734.5(PRKAR1A):c.1122_1123del (p.Asn374fs) rs1057517806
NM_002734.5(PRKAR1A):c.124C>T (p.Arg42Ter) rs281864782
NM_002734.5(PRKAR1A):c.15dup (p.Thr6fs) rs1555811666
NM_002734.5(PRKAR1A):c.1A>G (p.Met1Val) rs281864779
NM_002734.5(PRKAR1A):c.213_247del (p.Gly72fs) rs1064793712
NM_002734.5(PRKAR1A):c.289C>T (p.Arg97Ter) rs1555813217
NM_002734.5(PRKAR1A):c.360del (p.Asp121fs) rs886041530
NM_002734.5(PRKAR1A):c.374dup (p.Met125fs) rs886041457
NM_002734.5(PRKAR1A):c.385dup (p.Ala129fs) rs1555813434
NM_002734.5(PRKAR1A):c.407_408del (p.Val136fs) rs1064794280
NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter) rs886041228
NM_002734.5(PRKAR1A):c.488del (p.Thr163fs) rs1064797015
NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs) rs281864790
NM_002734.5(PRKAR1A):c.499C>T (p.Gln167Ter) rs2143294238
NM_002734.5(PRKAR1A):c.502+1G>A rs1555813578
NM_002734.5(PRKAR1A):c.535C>T (p.Gln179Ter) rs141913727
NM_002734.5(PRKAR1A):c.623del (p.Gly208fs) rs727503379
NM_002734.5(PRKAR1A):c.672G>A (p.Trp224Ter) rs1555814100
NM_002734.5(PRKAR1A):c.682C>T (p.Arg228Ter) rs281864784
NM_002734.5(PRKAR1A):c.695dup (p.Arg233fs) rs1555814115
NM_002734.5(PRKAR1A):c.69_70dup (p.Lys24fs) rs1064793709
NM_002734.5(PRKAR1A):c.738T>G (p.Tyr246Ter) rs886041351
NM_002734.5(PRKAR1A):c.806A>G (p.Asp269Gly) rs1085307672
NM_002734.5(PRKAR1A):c.812dup (p.Leu271fs) rs1568701362
NM_002734.5(PRKAR1A):c.892-2A>G rs2143382661
NM_002734.5(PRKAR1A):c.951del (p.Arg317fs) rs1057517805
NM_002734.5(PRKAR1A):c.957del (p.Pro320fs) rs2143383985

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