ClinVar Miner

List of variants in gene CEP120 reported as pathogenic for Joubert syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_153223.3(CEP120):c.1138_1139insA (p.Ser380fs) rs1554103267
NM_153223.3(CEP120):c.1646C>T (p.Ala549Val) rs775080726
NM_153223.3(CEP120):c.2134C>T (p.Leu712Phe) rs114280473
NM_153223.3(CEP120):c.2177T>C (p.Leu726Pro) rs1554102026
NM_153223.3(CEP120):c.581T>C (p.Val194Ala) rs1554104276

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