ClinVar Miner

List of variants in gene CLN3 reported by Counsyl

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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697
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.1198-1G>T rs386833702
NM_000086.2(CLN3):c.125+1del rs1555469452
NM_000086.2(CLN3):c.1256G>A (p.Gly419Glu) rs796052338
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.424del (p.Val142fs) rs386833720
NM_000086.2(CLN3):c.46+1G>A rs1057516343
NM_000086.2(CLN3):c.46+1G>C rs1057516343
NM_000086.2(CLN3):c.461-279_677+384del rs1555468632
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.582G>T (p.Leu194=) rs386833734
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.725_727AAG[2] (p.Glu244del) rs796052340
NM_000086.2(CLN3):c.790+1del rs1555468374
NM_000086.2(CLN3):c.791-1G>A rs1057517350
NM_000086.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_000086.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_000086.2(CLN3):c.906+2T>A rs771788391
NM_000086.2(CLN3):c.944dup (p.His315fs) rs386833740
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_000086.2(CLN3):c.963-63_963-44dup rs1555468153
NM_001042432.2(CLN3):c.837+5G>A rs756848924

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