ClinVar Miner

List of variants reported as uncertain significance for Retinitis pigmentosa by INSERM U1051, Institut des Neurosciences de Montpellier

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014014.5(SNRNP200):c.2716G>A (p.Val906Met) rs769979612 0.00004
NM_001297.5(CNGB1):c.2104T>A (p.Tyr702Asn) rs778003375 0.00001
NM_003322.6(TULP1):c.1345C>T (p.Arg449Cys) rs1480273410 0.00001
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn) rs1260914084
NM_033100.4(CDHR1):c.1367C>A (p.Ala456Glu) rs142742994
NM_033100.4(CDHR1):c.1463G>A (p.Gly488Asp) rs1842323988
NM_201253.3(CRB1):c.4219T>A (p.Ter1407Lys) rs1667270315
NM_201548.5(CERKL):c.608T>G (p.Val203Gly) rs1689008063
NM_206933.4(USH2A):c.637C>T (p.His213Tyr) rs2039613657

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