ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
CRX, 1-BP DEL, GLY217
CRX, 2-BP DEL, GLU168
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673
NM_000554.6(CRX):c.520del (p.Ala174fs) rs281865515
NM_000554.6(CRX):c.529del (p.Ala177fs) rs61748449

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