ClinVar Miner

List of variants in gene CEP152 reported by Ambry Genetics

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr) rs201217824 0.00120
NM_001194998.2(CEP152):c.3712C>G (p.Leu1238Val) rs116014437 0.00118
NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln) rs199862615 0.00118
NM_001194998.2(CEP152):c.4077C>G (p.Ser1359Arg) rs114263428 0.00117
NM_001194998.2(CEP152):c.3239A>G (p.Lys1080Arg) rs200167001 0.00036
NM_001194998.2(CEP152):c.4208C>T (p.Thr1403Ile) rs201317763 0.00019
NM_001194998.2(CEP152):c.3085A>G (p.Met1029Val) rs201172776 0.00016
NM_001194998.2(CEP152):c.620C>T (p.Ser207Leu) rs754777587 0.00011
NM_001194998.2(CEP152):c.2828A>G (p.Glu943Gly) rs200234298 0.00006
NM_001194998.2(CEP152):c.1598C>A (p.Pro533Gln) rs374376744 0.00004
NM_001194998.2(CEP152):c.2068C>T (p.Arg690Cys) rs587783419 0.00004
NM_001194998.2(CEP152):c.2905C>T (p.His969Tyr) rs775177277 0.00004
NM_001194998.2(CEP152):c.2082A>C (p.Leu694Phe) rs190580372 0.00003
NM_001194998.2(CEP152):c.3847C>T (p.Arg1283Cys) rs753625578 0.00003
NM_001194998.2(CEP152):c.494C>G (p.Ala165Gly) rs755941056 0.00003
NM_001194998.2(CEP152):c.962A>G (p.Asn321Ser) rs556609167 0.00003
NM_001194998.2(CEP152):c.540+6G>A rs770422442 0.00002
NM_001194998.2(CEP152):c.2864A>T (p.Lys955Met) rs756253532 0.00001
NM_001194998.2(CEP152):c.2939G>A (p.Arg980Gln) rs1042361244 0.00001
NM_001194998.2(CEP152):c.3781G>A (p.Gly1261Arg) rs369980055 0.00001
NM_001194998.2(CEP152):c.3800G>A (p.Arg1267His) rs750366915 0.00001
NM_001194998.2(CEP152):c.4222G>A (p.Glu1408Lys) rs767271070 0.00001
NM_001194998.2(CEP152):c.1137G>T (p.Lys379Asn)
NM_001194998.2(CEP152):c.1190G>A (p.Arg397His)
NM_001194998.2(CEP152):c.1291C>A (p.Gln431Lys)
NM_001194998.2(CEP152):c.1418A>G (p.Glu473Gly)
NM_001194998.2(CEP152):c.1445C>A (p.Ser482Tyr)
NM_001194998.2(CEP152):c.1526A>G (p.Tyr509Cys)
NM_001194998.2(CEP152):c.1655G>A (p.Arg552His)
NM_001194998.2(CEP152):c.1697A>G (p.Gln566Arg)
NM_001194998.2(CEP152):c.1741C>A (p.Leu581Ile)
NM_001194998.2(CEP152):c.1900C>G (p.Gln634Glu)
NM_001194998.2(CEP152):c.2087A>C (p.Lys696Thr)
NM_001194998.2(CEP152):c.2123A>C (p.Tyr708Ser)
NM_001194998.2(CEP152):c.2352G>T (p.Met784Ile)
NM_001194998.2(CEP152):c.2388C>G (p.Asp796Glu)
NM_001194998.2(CEP152):c.2489T>C (p.Ile830Thr)
NM_001194998.2(CEP152):c.25G>A (p.Ala9Thr)
NM_001194998.2(CEP152):c.2695-1G>T
NM_001194998.2(CEP152):c.2790G>C (p.Lys930Asn)
NM_001194998.2(CEP152):c.2950G>C (p.Asp984His)
NM_001194998.2(CEP152):c.2958C>A (p.His986Gln)
NM_001194998.2(CEP152):c.3056G>T (p.Cys1019Phe)
NM_001194998.2(CEP152):c.3071G>A (p.Arg1024His) rs199914670
NM_001194998.2(CEP152):c.3071G>T (p.Arg1024Leu) rs199914670
NM_001194998.2(CEP152):c.3086T>C (p.Met1029Thr)
NM_001194998.2(CEP152):c.3358G>A (p.Glu1120Lys)
NM_001194998.2(CEP152):c.3647A>C (p.Lys1216Thr)
NM_001194998.2(CEP152):c.3715T>C (p.Cys1239Arg)
NM_001194998.2(CEP152):c.3772T>C (p.Cys1258Arg)
NM_001194998.2(CEP152):c.3784G>T (p.Ala1262Ser)
NM_001194998.2(CEP152):c.3788T>C (p.Leu1263Ser)
NM_001194998.2(CEP152):c.3935G>A (p.Arg1312His)
NM_001194998.2(CEP152):c.3973G>A (p.Asp1325Asn)
NM_001194998.2(CEP152):c.3977A>G (p.Asp1326Gly)
NM_001194998.2(CEP152):c.4084A>G (p.Thr1362Ala)
NM_001194998.2(CEP152):c.4319A>G (p.His1440Arg)
NM_001194998.2(CEP152):c.4340A>T (p.Asp1447Val)
NM_001194998.2(CEP152):c.4450G>A (p.Asp1484Asn)
NM_001194998.2(CEP152):c.4612T>C (p.Cys1538Arg)
NM_001194998.2(CEP152):c.523C>G (p.Gln175Glu)
NM_001194998.2(CEP152):c.544C>G (p.Pro182Ala)
NM_001194998.2(CEP152):c.550T>C (p.Cys184Arg)
NM_001194998.2(CEP152):c.566C>T (p.Pro189Leu)
NM_001194998.2(CEP152):c.599C>T (p.Ser200Phe)
NM_001194998.2(CEP152):c.654C>G (p.Phe218Leu)
NM_001194998.2(CEP152):c.791G>A (p.Arg264His)

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