ClinVar Miner

List of variants in gene CEP152 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001194998.2(CEP152):c.3466+8G>C rs2306187 0.25704
NM_001194998.2(CEP152):c.691+9C>T rs77732888 0.07084
NM_001194998.2(CEP152):c.4094-9A>T rs80090788 0.00380
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709 0.00373
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720 0.00215
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199 0.00203
NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr) rs201217824 0.00120
NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn) rs200957146 0.00118
NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln) rs199862615 0.00118
NM_001194998.2(CEP152):c.982A>C (p.Lys328Gln) rs201942310 0.00118
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_001194998.2(CEP152):c.2920C>A (p.Gln974Lys) rs370745843 0.00021
NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter) rs201442213 0.00017
NM_001194998.2(CEP152):c.4292T>C (p.Ile1431Thr) rs375113825 0.00002
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) rs141600901

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