ClinVar Miner

List of variants reported as likely pathogenic for Leber congenital amaurosis by Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet

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Total variants: 8
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NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs) rs1598146589
NM_000180.4(GUCY2D):c.2234del (p.Pro745fs) rs1598149659
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter) rs1592726020
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875

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