ClinVar Miner

List of variants studied for Leber congenital amaurosis 10 by Molecular Diagnostics Laboratory,Seoul National University Hospital

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_025114.4(CEP290):c.1711+1G>A rs587783009
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs) rs587783010
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017

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