ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis by Molecular Genetics Laboratory,Institute for Ophthalmic Research

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_020366.3(RPGRIP1):c.2440C>T (p.Arg814Ter)
NM_020366.3(RPGRIP1):c.801-25_843del rs1566674809
NM_201253.3(CRB1):c.2072G>A (p.Trp691Ter) rs1558127317
NM_201253.3(CRB1):c.4039del (p.Thr1347fs) rs745422941
NM_201253.3(CRB1):c.410del (p.Pro137fs) rs1558057153
NM_201253.3(CRB1):c.70+1G>A rs1237424465

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