ClinVar Miner

List of variants in gene combination LOC126863090, PRPF6 reported as uncertain significance for Retinitis pigmentosa

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_012469.4(PRPF6):c.1525-7C>T	rs200467198	0.00022
NM_012469.4(PRPF6):c.1566C>T (p.Cys522=)	rs367582115	0.00013

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