ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_201253.3(CRB1):c.275_276insT (p.Arg92fs) rs1571848132
NM_201253.3(CRB1):c.287G>A (p.Cys96Tyr) rs1571848190
NM_201253.3(CRB1):c.289_294del (p.Lys97_Cys98del) rs1571848216
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285
NM_201253.3(CRB1):c.4005+4AGC[3] rs550852869

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