ClinVar Miner

List of variants in gene PCARE reported as pathogenic for Cone-rod dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.1804_1805del (p.His603fs) rs1667508280
NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter) rs1572829866

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