ClinVar Miner

List of variants in gene CRB1 reported as likely pathogenic for Leber congenital amaurosis 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.2220dup (p.Met741fs) rs1553261468
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752

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