ClinVar Miner

List of variants in gene combination C12orf29, CEP290 reported as uncertain significance for Leber congenital amaurosis 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_025114.3(CEP290):c.*143_*146delTAAA rs886049876
NM_025114.3(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519
NM_025114.3(CEP290):c.7365A>G (p.Glu2455=) rs765709669
NM_025114.3(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792

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