ClinVar Miner

List of variants reported as uncertain significance for Retinitis pigmentosa 20 by Genome-Nilou Lab

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.565G>A (p.Val189Ile)	rs752990312	0.00005
NM_000329.3(RPE65):c.547A>G (p.Ile183Val)	rs1010958875	0.00001
NM_000329.3(RPE65):c.1205G>C (p.Trp402Ser)	rs774130993

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