ClinVar Miner

List of variants reported for Retinitis pigmentosa 20 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) rs767528365 0.00012
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.109T>A (p.Trp37Arg)
NM_000329.3(RPE65):c.1128G>A (p.Lys376=) rs749464766

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