ClinVar Miner

List of variants in gene RP2 studied for Leber congenital amaurosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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NM_006915.3(RP2):c.102+3A>C rs1556313557
NM_006915.3(RP2):c.102G>A (p.Lys34=) rs1556313552
NM_006915.3(RP2):c.486_490del (p.Gly163fs) rs1569531639

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