ClinVar Miner

List of variants reported as pathogenic for Seckel syndrome 5

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Total variants: 6
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NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg) rs200879436
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_001194998.2(CEP152):c.261+1G>C rs966888627
NM_001194998.2(CEP152):c.2694+1G>T rs1349385657
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) rs141600901
NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs) rs1060499557

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