ClinVar Miner

List of variants in gene CEP152 reported as uncertain significance for Seckel syndrome 5; Microcephaly 9, primary, autosomal recessive

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_001194998.2(CEP152):c.4616A>G (p.Asn1539Ser) rs200366079 0.00024
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.3934C>T (p.Arg1312Cys) rs751031882 0.00005
NM_001194998.2(CEP152):c.4365_4376delinsGTT (p.Ser1455_Asn1459delinsArgPhe) rs797045455

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