ClinVar Miner

List of variants in gene CLN3 reported as pathogenic for neuronal ceroid lipofuscinosis 3

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286 0.00003
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His) rs386833695 0.00002
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697 0.00002
NM_001042432.2(CLN3):c.1198-1G>T rs386833702 0.00001
NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly) rs386833703 0.00001
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709 0.00001
NM_001042432.2(CLN3):c.622dup (p.Ser208fs) rs386833736 0.00001
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter) rs796052335 0.00001
GRCh37/hg19 16p11.2(chr16:28497668-28497971)
GRCh37/hg19 16p11.2(chr16:28497668-28497972)
GRCh38/hg38 16p12.1(chr16:28485965-28486930)x1
NC_000016.10:g.(28485964_28486930)del
NG_008654.2:g.(13298_14630)_(15199_19425)del
NG_008654.2:g.(9848_10812)_(19800_19939)del
NM_001042432.2(CLN3):c.1056+3A>C rs386833698
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_001042432.2(CLN3):c.125+1G>C rs775616181
NM_001042432.2(CLN3):c.240del (p.Pro81fs) rs748710466
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_001042432.2(CLN3):c.354_355insG (p.Leu119fs)
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs) rs386833715
NM_001042432.2(CLN3):c.371_372insT (p.Ser125fs) rs587779397
NM_001042432.2(CLN3):c.382dup (p.Val128fs) rs2141714554
NM_001042432.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_001042432.2(CLN3):c.460+376_677+388del
NM_001042432.2(CLN3):c.461-279_677+384del rs1555468632
NM_001042432.2(CLN3):c.461-280_677+382del rs1555468634
NM_001042432.2(CLN3):c.485C>G (p.Ser162Ter) rs386833725
NM_001042432.2(CLN3):c.533+1G>C rs386833728
NM_001042432.2(CLN3):c.534-2A>G rs2046221354
NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp) rs386833731
NM_001042432.2(CLN3):c.569dup (p.Ala191fs) rs386833732
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_001042432.2(CLN3):c.610C>T (p.Gln204Ter)
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter) rs386833737
NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter) rs1064794233
NM_001042432.2(CLN3):c.790+2T>C rs1397197980
NM_001042432.2(CLN3):c.790+532_1056+1445del
NM_001042432.2(CLN3):c.816_817del (p.Glu273fs) rs886041546
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_001042432.2(CLN3):c.922_923del (p.Phe308fs) rs2046113301
NM_001042432.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_001042432.2(CLN3):c.954_962+18del rs386833741

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