ClinVar Miner

List of variants in gene combination C1QTNF5, MFRP reported as likely pathogenic for Retinal dystrophy

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000011.10:g.119346419_119352600del
NM_001278431.2(C1QTNF5):c.489C>A (p.Ser163Arg) rs111033578
NM_001278431.2(C1QTNF5):c.556C>T (p.Pro186Ser) rs1555036138
NM_001278431.2(C1QTNF5):c.569C>G (p.Ser190Trp) rs906525288
NM_031433.4(MFRP):c.855T>A (p.Cys285Ter) rs1243587288
NM_031433.4(MFRP):c.955C>T (p.Gln319Ter) rs1555037395

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