ClinVar Miner

List of variants in gene CEP152 reported as pathogenic for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
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_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717

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