ClinVar Miner

List of variants in gene PCARE reported as likely benign for Retinitis pigmentosa

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.*1704A>G rs72788189 0.04109
NM_001029883.3(PCARE):c.*3041A>G rs17007522 0.02184
NM_001029883.3(PCARE):c.*1601G>A rs72861029 0.02029
NM_001029883.3(PCARE):c.*983G>A rs74315958 0.01979
NM_001029883.3(PCARE):c.*2584C>T rs79961309 0.01867
NM_001029883.3(PCARE):c.*2293G>C rs1562394 0.01852
NM_001029883.3(PCARE):c.*2300C>T rs115478100 0.01474
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) rs140776870 0.01391
NM_001029883.3(PCARE):c.*1748C>T rs114193888 0.01296
NM_001029883.3(PCARE):c.*286G>T rs78759931 0.01291
NM_001029883.3(PCARE):c.*2209G>A rs77448535 0.01239
NM_001029883.3(PCARE):c.366T>C (p.His122=) rs17007546 0.01047
NM_001029883.3(PCARE):c.*686A>T rs116550481 0.00990
NM_001029883.3(PCARE):c.*1742G>C rs138102302 0.00848
NM_001029883.3(PCARE):c.*1145G>A rs115327633 0.00846
NM_001029883.3(PCARE):c.*778A>T rs114774220 0.00686
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) rs200278694 0.00371
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=) rs188815175 0.00296
NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln) rs184249075 0.00126

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