ClinVar Miner

List of variants reported as uncertain significance for Retinal dystrophy by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_000180.4(GUCY2D):c.901_908del (p.Leu301fs) rs1555634713
NM_206933.4(USH2A):c.2705G>A (p.Cys902Tyr) rs780846352

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