ClinVar Miner

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

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Total variants: 5
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NM_000883.4(IMPDH1):c.978G>C (p.Gln326His) rs1584727989
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091
NM_014336.5(AIPL1):c.730_732GAG[1] (p.Glu245del) rs1200311161
NM_015629.4(PRPF31):c.1336T>C (p.Ser446Pro) rs1600361737
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly) rs1571645627

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