ClinVar Miner

List of variants in gene CLN3 reported as likely pathogenic for Retinitis pigmentosa

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Total variants: 5
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HGVS dbSNP
NM_000086.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_001042432.1(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_001042432.1(CLN3):c.461-280_677+383del rs1555468632
NM_001042432.1(CLN3):c.837+5G>A rs756848924
NM_001042432.1(CLN3):c.988G>A (p.Val330Ile) rs386833744

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