ClinVar Miner

List of variants reported as uncertain significance for Retinitis pigmentosa by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_019098.5(CNGB3):c.1672G>T (p.Gly558Cys) rs749413012 0.00007
NM_001256789.3(CACNA1F):c.2968G>A (p.Gly990Arg) rs782473510 0.00004
NM_000554.6(CRX):c.205C>T (p.Arg69Cys) rs771551785 0.00001
NM_001134831.2(AHI1):c.2258A>T (p.Asp753Val) rs1562758269
NM_152443.3(RDH12):c.152T>C (p.Ile51Thr) rs104894473
NM_182894.3(VSX2):c.455G>A (p.Arg152Lys) rs1566883262

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