ClinVar Miner

List of variants in gene CLN3 reported as likely pathogenic by Counsyl

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Gene type:
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Total variants: 28
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HGVS dbSNP
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.1059C>A (p.Cys353Ter) rs1057516677
NM_000086.2(CLN3):c.1067dup (p.Val357fs) rs1555467473
NM_000086.2(CLN3):c.1116C>G (p.Tyr372Ter) rs142456044
NM_000086.2(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_000086.2(CLN3):c.195dup (p.Lys66fs) rs1555469159
NM_000086.2(CLN3):c.1A>G (p.Met1Val) rs386833708
NM_000086.2(CLN3):c.223-1G>A rs1555469089
NM_000086.2(CLN3):c.233dup (p.Thr80fs) rs386833712
NM_000086.2(CLN3):c.279_280CT[1] (p.Ser94fs) rs1057517215
NM_000086.2(CLN3):c.295-2A>C rs1478660606
NM_000086.2(CLN3):c.2T>C (p.Met1Thr) rs777625354
NM_000086.2(CLN3):c.46+1G>A rs1057516343
NM_000086.2(CLN3):c.46+1G>C rs1057516343
NM_000086.2(CLN3):c.47-1G>A rs1555469477
NM_000086.2(CLN3):c.533+1G>C rs386833728
NM_000086.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_000086.2(CLN3):c.677+1G>T rs1057517287
NM_000086.2(CLN3):c.683dup (p.Leu230fs) rs1057516335
NM_000086.2(CLN3):c.791-1G>A rs1057517350
NM_000086.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_000086.2(CLN3):c.906+2T>A rs771788391
NM_000086.2(CLN3):c.962+1G>A rs1057516267
NM_000086.2(CLN3):c.963-1G>A rs386833742
NM_000086.2(CLN3):c.963-2A>C rs1418997146
NM_001042432.1(CLN3):c.125+1delG rs1555469452
NM_001042432.1(CLN3):c.790+1delG rs1555468374

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