Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs386833707
rs386833707
CLN3
1.000 0.120 16 28477561 frameshift variant C/- delins
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.700 0
dbSNP: rs386833706
rs386833706
CLN3
1.000 0.120 16 28477565 stop gained G/A;T snv 8.0E-06
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.700 0
dbSNP: rs386833703
rs386833703
CLN3
1.000 0.120 16 28477586 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.700 0
dbSNP: rs139842473
rs139842473
CLN3
1.000 0.080 16 28477620 missense variant G/A;C;T snv 7.2E-05; 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2014 2014
dbSNP: rs386833702
rs386833702
CLN3
1.000 0.120 16 28477636 splice acceptor variant C/A snv 8.0E-06 7.0E-06
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.700 1.000 3 1997 2015
dbSNP: rs386833701
rs386833701
CLN3
1.000 0.120 16 28477739 stop gained C/A;G snv 4.0E-06
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.700 1.000 2 2004 2012
dbSNP: rs142456044
rs142456044
CLN3
1.000 0.120 16 28477818 stop gained G/A;C snv 1.2E-05 2.8E-05
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.700 0
dbSNP: rs1555467473
rs1555467473
CLN3
1.000 0.120 16 28477866 frameshift variant -/A delins
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.700 0
dbSNP: rs1057516677
rs1057516677
CLN3
0.925 0.120 16 28477875 stop gained G/T snv
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.700 0
dbSNP: rs1057516677
rs1057516677
CLN3
0.925 0.120 16 28477875 stop gained G/T snv
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.700 0
dbSNP: rs386833698
rs386833698
CLN3
0.925 0.120 16 28482102 splice region variant T/G snv
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.700 1.000 1 2014 2014
dbSNP: rs386833698
rs386833698
CLN3
0.925 0.120 16 28482102 splice region variant T/G snv
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.700 0
dbSNP: rs386833699
rs386833699
CLN3
1.000 0.120 16 28482105 missense variant C/G snv
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.700 0
dbSNP: rs386833697
rs386833697
CLN3
1.000 0.120 16 28482107 stop gained G/A snv 8.1E-06 2.1E-05
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.700 1.000 2 2012 2013
dbSNP: rs386833696
rs386833696
CLN3
1.000 0.120 16 28482113 frameshift variant G/- delins
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.700 0
dbSNP: rs386833695
rs386833695
CLN3
0.925 0.120 16 28482160 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.800 1.000 8 1997 2013
dbSNP: rs386833695
rs386833695
CLN3
0.925 0.120 16 28482160 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.700 1.000 6 1997 2013
dbSNP: rs386833694
rs386833694
CLN3
0.925 0.120 16 28482161 missense variant G/A;T snv 4.0E-06
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.700 1.000 6 1997 2009
dbSNP: rs386833694
rs386833694
CLN3
0.925 0.120 16 28482161 missense variant G/A;T snv 4.0E-06
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.800 1.000 6 1997 2012
dbSNP: rs386833744
rs386833744
CLN3
0.925 0.160 16 28482173 missense variant C/A;T snv 2.0E-05
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.800 1.000 0 1997 2012
dbSNP: rs386833744
rs386833744
CLN3
0.925 0.160 16 28482173 missense variant C/A;T snv 2.0E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs386833743
rs386833743
CLN3
1.000 0.120 16 28482182 stop gained G/A snv
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.700 0
dbSNP: rs386833742
rs386833742
CLN3
1.000 0.120 16 28482199 splice acceptor variant C/A;T snv
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.700 0
dbSNP: rs1418997146
rs1418997146
CLN3
1.000 0.120 16 28482200 splice acceptor variant T/G snv
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.700 0
dbSNP: rs386833741
rs386833741
CLN3
1.000 0.120 16 28482309 splice donor variant CCTCGCTCCTCTTACCAGCGGTATTGC/- delins 2.1E-05
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.700 0