ClinVar Miner

List of variants in gene CLN3 reported as pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP
CLN3, 3-KB DEL, NT928
CLN3, 6-KB DEL
CLN3, IVSDS, G-C, +1/76-BP DEL
GRCh37/hg19 16p11.2(chr16:28497668-28497971)
GRCh37/hg19 16p11.2(chr16:28497668-28497972)
NC_000016.10:g.(?_28475343)_(28484138_?)del
NC_000016.10:g.(?_28475343)_(28486650_?)del
NC_000016.10:g.(?_28477496)_(28491779_?)del
NC_000016.10:g.(?_28483996)_(28484128_?)del
NC_000016.10:g.(?_28485965)_(28486930_?)del
NC_000016.10:g.(?_28486327)_(28486670_?)del
NC_000016.10:g.(?_28486347)_(28486650_?)del
NC_000016.10:g.(?_28487436)_(28491779_?)del
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.105G>A (p.Trp35Ter) rs386833700
NM_000086.2(CLN3):c.1198-1G>T rs386833702
NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_000086.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709
NM_000086.2(CLN3):c.371_372insT (p.Ser125fs) rs587779397
NM_000086.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_000086.2(CLN3):c.460+376_677+388del
NM_000086.2(CLN3):c.461-279_677+384del rs1555468632
NM_000086.2(CLN3):c.461-280_677+382del rs1555468634
NM_000086.2(CLN3):c.461-3C>G rs181995380
NM_000086.2(CLN3):c.569dup (p.Ala191fs) rs386833732
NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_000086.2(CLN3):c.622dup (p.Ser208fs) rs386833736
NM_000086.2(CLN3):c.631C>T (p.Gln211Ter) rs386833737
NM_000086.2(CLN3):c.790+532_1056+1445del
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000086.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_000086.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_000086.2(CLN3):c.954_962+18del rs386833741

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