ClinVar Miner

List of variants in gene CLN3 reported as pathogenic by OMIM

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Total variants: 7
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HGVS dbSNP
CLN3, 3-KB DEL, NT928
CLN3, 6-KB DEL
CLN3, IVSDS, G-C, +1/76-BP DEL
NM_000086.2(CLN3):c.461-280_677+382del rs1555468634
NM_000086.2(CLN3):c.494G>A (p.Gly165Glu) rs786201028
NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286

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