ClinVar Miner

List of variants in gene CEP290 reported as likely pathogenic for Joubert syndrome 5

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_025114.3(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.3(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.4787_4790TAAA[1] (p.Lys1598Serfs)
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.3(CEP290):c.6645+1G>A rs201218801
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.732_733AG[1] (p.Glu245fs)

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