ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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NM_000554.6(CRX):c.478_479GT[1] (p.Ser161fs) rs1599991538
NM_000554.6(CRX):c.648del (p.Ser216fs) rs869312175

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