ClinVar Miner

List of variants in gene CEP152 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001194998.2(CEP152):c.87+26A>G rs72739872 0.11222
NM_001194998.2(CEP152):c.1577+6G>A rs78525896 0.01033
NM_001194998.2(CEP152):c.1783-30T>C rs74012146 0.00510
NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg) rs200879436 0.00450
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro) rs77745570 0.00243
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720 0.00215
NM_001194998.2(CEP152):c.2262G>A (p.Glu754=) rs149176738 0.00195
NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro) rs202237336 0.00029
NM_001194998.2(CEP152):c.3852T>C (p.Tyr1284=) rs199898600 0.00009
NM_001194998.2(CEP152):c.3867G>A (p.Lys1289=) rs370253625 0.00006
NM_001194998.2(CEP152):c.2985G>T (p.Ala995=) rs377506426 0.00003
NM_001194998.2(CEP152):c.1158C>T (p.Thr386=) rs771559023 0.00002
NM_001194998.2(CEP152):c.2517C>T (p.Leu839=) rs566937763
NM_001194998.2(CEP152):c.5079G>A (p.Pro1693=) rs577873248

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