ClinVar Miner

List of variants in gene CEP290 reported as likely pathogenic for Leber congenital amaurosis 10

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.4(CEP290):c.4437+1G>A rs760915898
NM_025114.4(CEP290):c.732_733AG[1] (p.Glu245fs) rs1592671672
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896

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