ClinVar Miner

List of variants studied for Leber congenital amaurosis by Institute of Medical Molecular Genetics, University of Zurich

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg) rs1658691162 0.00001
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.929C>A (p.Thr310Asn) rs1975693830
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2687G>C (p.Cys896Ser) rs1571544334

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