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: rs281865192
rs281865192
CEP290
0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs539400286
rs539400286
CEP290
0.763 0.280 12 88086083 stop gained G/A snv 1.6E-05 2.1E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs150726175
rs150726175
NMNAT1
0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.720 1.000 6 2012 2018
dbSNP: rs386834152
rs386834152
CEP290
0.790 0.280 12 88114488 stop gained G/A snv 5.1E-05 4.9E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2019 2019
dbSNP: rs397515360
rs397515360
CNGB3
0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 2 2000 2019
dbSNP: rs62645748
rs62645748
CRB1
0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs727503855
rs727503855
CEP290
0.807 0.240 12 88118528 frameshift variant TT/-;T;TTT delins 7.1E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs61750168
rs61750168
GUCY2D
0.851 0.080 17 8013918 missense variant C/G;T snv 4.0E-06; 1.5E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.710 1.000 1 2018 2019
dbSNP: rs758593134
rs758593134
CEP290 ; TMTC3
0.851 0.200 12 88140955 splice donor variant C/T snv 4.6E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2019 2019
dbSNP: rs775796581
rs775796581
CNGB3
0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2000 2000
dbSNP: rs62636275
rs62636275
CRB1
0.851 0.080 1 197435170 missense variant G/A snv 2.8E-05 3.5E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.710 1.000 0 2006 2006
dbSNP: rs387907009
rs387907009
IQCB1
0.882 0.200 3 121790166 stop gained C/A snv 1.2E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2011 2011
dbSNP: rs61751404
rs61751404
ABCA4
0.882 0.080 1 94021340 missense variant G/A;C snv 3.2E-05; 4.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 1998 1998
dbSNP: rs62635288
rs62635288
CEP290 ; TMTC3
0.882 0.240 12 88141287 missense variant C/A snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2006 2006
dbSNP: rs62645752
rs62645752
CRB1
0.882 0.080 1 197328961 frameshift variant ATAGGAA/- delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2019 2019
dbSNP: rs750962965
rs750962965
IQCB1
0.882 0.200 3 121808978 frameshift variant AA/- delins 1.0E-04 1.4E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2005 2005
dbSNP: rs754768875
rs754768875
USH2A ; LOC102723833
0.882 0.200 1 216086749 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2019 2019
dbSNP: rs114342808
rs114342808
CRB1
0.882 0.080 1 197421404 stop gained C/T snv 3.2E-05 1.4E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs281865175
rs281865175
CRB1
0.882 0.080 1 197477775 frameshift variant CAACTCAGGG/- delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs386834261
rs386834261
GPHN ; ZFYVE26 ; RDH12
0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs61749670
rs61749670
GUCY2D
0.882 0.080 17 8003434 frameshift variant C/- delins 1.7E-05 7.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs61751279
rs61751279
RPE65
0.882 0.080 1 68446862 splice acceptor variant T/A snv 2.0E-05 1.4E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs62636271
rs62636271
CRB1
0.882 0.080 1 197427880 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs62642583
rs62642583
RPE65
0.882 0.080 1 68444818 frameshift variant AAATTCTGTTATGACGATCC/- delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs62645747
rs62645747
CRB1
0.882 0.040 1 197429614 missense variant T/A;C snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0