ClinVar Miner

List of variants in gene CEP152 reported as likely benign for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_001194998.2(CEP152):c.*255T>C rs187213125
NM_001194998.2(CEP152):c.-77G>C rs141463032
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) rs117557829
NM_001194998.2(CEP152):c.2804A>G (p.Gln935Arg) rs74245641
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199
NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro) rs77745570
NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro) rs202237336
NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=) rs1048042

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