ClinVar Miner

List of variants in gene CLN3 reported as uncertain significance for Juvenile neuronal ceroid lipofuscinosis

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Total variants: 7
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HGVS dbSNP
NM_000086.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_001042432.1(CLN3):c.1256G>A (p.Gly419Glu) rs796052338
NM_001042432.1(CLN3):c.152C>T (p.Ser51Phe) rs780151271
NM_001042432.1(CLN3):c.270T>G (p.Phe90Leu) rs145520962
NM_001042432.1(CLN3):c.392G>A (p.Ser131Asn) rs144770450
NM_001042432.1(CLN3):c.731_733delAAG (p.Glu244del) rs796052340
NM_001042432.1(CLN3):c.837+5G>A rs756848924

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