ClinVar Miner

List of variants in gene PRPF3 reported as pathogenic for Retinitis pigmentosa

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004698.4(PRPF3):c.1283-2A>G rs1572263399
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) rs121434241
NM_004698.4(PRPF3):c.1496A>C (p.His499Pro) rs1658062720

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