ClinVar Miner

List of variants in gene PRKAR1A reported as likely pathogenic

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002734.5(PRKAR1A):c.545C>T (p.Thr182Met) rs199801675 0.00001
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys) rs1555815121
NM_002734.5(PRKAR1A):c.1075C>G (p.Leu359Val) rs2143391287
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_002734.5(PRKAR1A):c.1142_1145del (p.Val381fs) rs2143392408
NM_002734.5(PRKAR1A):c.125dup (p.Pro43fs) rs1555811735
NM_002734.5(PRKAR1A):c.177+3A>G rs797044568
NM_002734.5(PRKAR1A):c.179del (p.Glu60fs) rs2085656304
NM_002734.5(PRKAR1A):c.441-2A>G
NM_002734.5(PRKAR1A):c.502+1G>A rs1555813578
NM_002734.5(PRKAR1A):c.523del (p.Tyr175fs) rs1600484162
NM_002734.5(PRKAR1A):c.549+1G>A
NM_002734.5(PRKAR1A):c.565_566insC (p.Glu189fs) rs2143321666
NM_002734.5(PRKAR1A):c.569G>A (p.Trp190Ter)
NM_002734.5(PRKAR1A):c.620A>G (p.Tyr207Cys) rs1600486197
NM_002734.5(PRKAR1A):c.695G>A (p.Arg232Lys) rs2085775108
NM_002734.5(PRKAR1A):c.854A>G (p.Gln285Arg) rs1555814719
NM_002734.5(PRKAR1A):c.891+3A>G rs281864799
NM_002734.5(PRKAR1A):c.892-26_905del rs1568702458
NM_002734.5(PRKAR1A):c.932_933del (p.Glu311fs)
NM_002734.5(PRKAR1A):c.973+1G>C
NM_002734.5(PRKAR1A):c.974_981delinsCAAA (p.Gly325fs)

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