ClinVar Miner

List of variants in gene CEP152 studied for Seckel syndrome 5; Microcephaly 9, primary, autosomal recessive

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00253
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_001194998.2(CEP152):c.4616A>G (p.Asn1539Ser) rs200366079 0.00024
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) rs117557829 0.00014
NM_001194998.2(CEP152):c.1908+1G>T rs748767202 0.00009
NM_001194998.2(CEP152):c.2984C>T (p.Ala995Val) rs146955708 0.00006
NM_001194998.2(CEP152):c.3433C>A (p.Pro1145Thr) rs200055660 0.00006
NM_001194998.2(CEP152):c.1321G>A (p.Gly441Arg) rs1162409652 0.00005
NM_001194998.2(CEP152):c.3934C>T (p.Arg1312Cys) rs751031882 0.00005
NM_001194998.2(CEP152):c.4330C>T (p.Gln1444Ter) rs373725563 0.00005
NM_001194998.2(CEP152):c.2318G>A (p.Trp773Ter) rs764602105 0.00004
NM_001194998.2(CEP152):c.1613C>G (p.Ser538Ter) rs776054057 0.00003
NM_001194998.2(CEP152):c.799C>T (p.Arg267Ter) rs376895274 0.00003
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717 0.00002
NM_001194998.2(CEP152):c.972+2T>A rs766194658 0.00002
NM_001194998.2(CEP152):c.343C>T (p.Arg115Ter) rs995036419 0.00001
NM_001194998.2(CEP152):c.3925C>T (p.Arg1309Ter) rs957548078 0.00001
NM_001194998.2(CEP152):c.863G>A (p.Arg288Gln) rs766223757 0.00001
NM_001194998.2(CEP152):c.1138A>G (p.Asn380Asp)
NM_001194998.2(CEP152):c.1768del (p.Ser590fs)
NM_001194998.2(CEP152):c.1981C>T (p.Gln661Ter)
NM_001194998.2(CEP152):c.2034_2036del (p.Tyr678_Gln679delinsTer) rs754565020
NM_001194998.2(CEP152):c.3016del (p.Thr1006fs) rs587783423
NM_001194998.2(CEP152):c.3172del (p.Gln1058fs) rs2504602075
NM_001194998.2(CEP152):c.3346-5T>C
NM_001194998.2(CEP152):c.3954C>A (p.Cys1318Ter)
NM_001194998.2(CEP152):c.4136C>A (p.Ser1379Ter) rs1376927760
NM_001194998.2(CEP152):c.4365_4376delinsGTT (p.Ser1455_Asn1459delinsArgPhe) rs797045455
NM_001194998.2(CEP152):c.467dup (p.Gln157fs) rs1208144689
NM_001194998.2(CEP152):c.527G>A (p.Trp176Ter) rs763537210
NM_001194998.2(CEP152):c.880_883del (p.Phe294fs)
NM_001194998.2(CEP152):c.903_904del (p.Glu301fs) rs1421061751

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