List of variants in gene CLN3 reported as pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 126

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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.988G>A (p.Val330Ile)	rs386833744	0.00004
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.175G>A (p.Ala59Thr)	rs765893479	0.00002
NM_001042432.2(CLN3):c.1198-1G>T	rs386833702	0.00001
NM_001042432.2(CLN3):c.125+5G>A	rs386833704	0.00001
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)	rs796052338	0.00001
NM_001042432.2(CLN3):c.1A>G (p.Met1Val)	rs386833708	0.00001
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter)	rs386833709	0.00001
NM_001042432.2(CLN3):c.461-1G>T	rs386833722	0.00001
NM_001042432.2(CLN3):c.622dup (p.Ser208fs)	rs386833736	0.00001
NM_001042432.2(CLN3):c.906+2T>A	rs771788391	0.00001
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter)	rs796052335	0.00001
NM_001042432.2(CLN3):c.962+2T>G	rs746674736	0.00001
NM_001042432.2(CLN3):c.962+3A>T	rs796052336	0.00001
GRCh37/hg19 16p11.2(chr16:28497668-28497971)
GRCh37/hg19 16p11.2(chr16:28497668-28497971)x1
GRCh37/hg19 16p11.2(chr16:28497668-28497972)
GRCh37/hg19 16p11.2(chr16:28497795-28498122)x1
GRCh37/hg19 16p11.2(chr16:28497795-28498182)x1
GRCh38/hg38 16p12.1(chr16:28485965-28486930)x1
NC_000016.10:g.(28485964_28486930)del
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_000016.9:g.(?_28484798)_28497560del
NC_000016.9:g.(?_28488827)_(28489208_?)del
NC_000016.9:g.(?_28488837)_(28495459_?)del
NC_000016.9:g.(?_28493416)_(28494003_?)del
NC_000016.9:g.(?_28493426)_(28493993_?)del
NC_000016.9:g.(?_28495307)_(28495459_?)del
NC_000016.9:g.(?_28495317)_(28500717_?)del
NC_000016.9:g.(?_28502803)_(28503080_?)del
NG_008654.2:g.(13298_14630)_(15199_19425)del
NG_008654.2:g.(9848_10812)_(19800_19939)del
NM_000086.2(CLN3):c.(374+1_375-1)_(533+1_534-1)del
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)	rs386833694
NM_001042432.2(CLN3):c.1048del (p.Leu350fs)	rs386833696
NM_001042432.2(CLN3):c.1056+3A>C	rs386833698
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter)	rs1057516677
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter)	rs386833700
NM_001042432.2(CLN3):c.105del (p.His34_Trp35insTer)	rs2141721909
NM_001042432.2(CLN3):c.1075del (p.Leu359fs)	rs2046023126
NM_001042432.2(CLN3):c.1115_1118dup (p.Val374fs)
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter)	rs386833701
NM_001042432.2(CLN3):c.1197+1G>A
NM_001042432.2(CLN3):c.1197+2T>A	rs2046020472
NM_001042432.2(CLN3):c.1198-2A>C	rs2141693746
NM_001042432.2(CLN3):c.1246_1247dup (p.Asp416fs)
NM_001042432.2(CLN3):c.125+1G>C	rs775616181
NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)
NM_001042432.2(CLN3):c.141del (p.Leu46_Cys47insTer)	rs1064795153
NM_001042432.2(CLN3):c.17del (p.Gly6fs)	rs886043242
NM_001042432.2(CLN3):c.18del (p.Ser7fs)
NM_001042432.2(CLN3):c.1A>C (p.Met1Leu)	rs386833708
NM_001042432.2(CLN3):c.233dup (p.Thr80fs)	rs386833712
NM_001042432.2(CLN3):c.240del (p.Pro81fs)	rs748710466
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)	rs386833713
NM_001042432.2(CLN3):c.30del (p.Ser12fs)	rs2141722729
NM_001042432.2(CLN3):c.317dup (p.Thr108fs)
NM_001042432.2(CLN3):c.354_355insG (p.Leu119fs)
NM_001042432.2(CLN3):c.370del (p.Tyr124fs)	rs1555468920
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs)	rs386833715
NM_001042432.2(CLN3):c.371_372insT (p.Ser125fs)	rs587779397
NM_001042432.2(CLN3):c.379del (p.Arg127fs)	rs386833717
NM_001042432.2(CLN3):c.382dup (p.Val128fs)	rs2141714554
NM_001042432.2(CLN3):c.392del (p.Ser131fs)	rs2141714500
NM_001042432.2(CLN3):c.3G>A (p.Met1Ile)
NM_001042432.2(CLN3):c.413del (p.Ser138fs)
NM_001042432.2(CLN3):c.424del (p.Val142fs)	rs386833720
NM_001042432.2(CLN3):c.43G>T (p.Glu15Ter)	rs1228953213
NM_001042432.2(CLN3):c.460+1G>A	rs1397086223
NM_001042432.2(CLN3):c.460+376_677+388del
NM_001042432.2(CLN3):c.461-1G>A	rs386833722
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.461-2A>G
NM_001042432.2(CLN3):c.461-3C>G	rs181995380
NM_001042432.2(CLN3):c.485C>G (p.Ser162Ter)	rs386833725
NM_001042432.2(CLN3):c.494G>A (p.Gly165Glu)	rs786201028
NM_001042432.2(CLN3):c.533+1G>C	rs386833728
NM_001042432.2(CLN3):c.534-2A>G	rs2046221354
NM_001042432.2(CLN3):c.551G>A (p.Trp184Ter)
NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter)
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs)	rs386833729
NM_001042432.2(CLN3):c.565G>A (p.Gly189Arg)	rs386833731
NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg)	rs386833731
NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp)	rs386833731
NM_001042432.2(CLN3):c.569dup (p.Ala191fs)	rs386833732
NM_001042432.2(CLN3):c.592del (p.Ser198fs)	rs2141712336
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)	rs267606737
NM_001042432.2(CLN3):c.598_601dup (p.Gly201fs)
NM_001042432.2(CLN3):c.599_615del (p.Leu200fs)
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter)	rs386833737
NM_001042432.2(CLN3):c.639del (p.Leu214fs)	rs2046218391
NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly)	rs1555468695
NM_001042432.2(CLN3):c.678-2A>G	rs2046162412
NM_001042432.2(CLN3):c.683del (p.Phe228fs)
NM_001042432.2(CLN3):c.709C>T (p.Gln237Ter)	rs2141707084
NM_001042432.2(CLN3):c.729del (p.Glu244fs)
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter)	rs2046158549
NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter)	rs1064794233
NM_001042432.2(CLN3):c.790+1del	rs1555468374
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.825G>A (p.Trp275Ter)	rs2141704162
NM_001042432.2(CLN3):c.828_829del (p.Phe278fs)
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu)	rs369008702
NM_001042432.2(CLN3):c.871dup (p.Val291fs)
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.944_945insGA (p.His315fs)
NM_001042432.2(CLN3):c.944dup (p.His315fs)	rs386833740
NM_001042432.2(CLN3):c.954_962+18del	rs386833741
NM_001042432.2(CLN3):c.954dup (p.Tyr319fs)
NM_001042432.2(CLN3):c.967C>T (p.Gln323Ter)
NM_001042432.2(CLN3):c.985_988del (p.Gly329fs)	rs2141702839
NM_001042432.2(CLN3):c.992_993del (p.Phe331fs)	rs2046109345
Single allele

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