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: rs775978677
rs775978677
NMNAT1
1.000 0.040 1 9982521 frameshift variant -/A delins 4.0E-06 7.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs863224884
rs863224884
KCNJ13 ; GIGYF2
0.925 0.040 2 232770905 missense variant G/A snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
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: 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: rs1553722736
rs1553722736
IQCB1
1.000 0.040 3 121828473 stop gained A/C snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs201405662
rs201405662
IQCB1
1.000 0.040 3 121828519 stop gained G/A;C snv 3.6E-05; 8.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs62638214
rs62638214
GRM6
0.925 0.080 5 178986393 stop gained G/A snv 1.5E-04 1.2E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2019 2019
dbSNP: rs794727166
rs794727166
PDE6A
1.000 0.040 5 149884474 splice region variant C/A;T snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs766143193
rs766143193
LCA5 ; LOC100506851
1.000 0.040 6 79487422 stop gained G/A;T snv 3.2E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2013 2013
dbSNP: rs866395428
rs866395428
LCA5
1.000 0.040 6 79493633 stop gained G/A snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2015 2015
dbSNP: rs121918165
rs121918165
LCA5
0.925 0.040 6 79493636 stop gained G/A snv 1.2E-04 5.6E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs1554125752
rs1554125752
TULP1
0.925 0.080 6 35506146 frameshift variant -/G delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs1554347012
rs1554347012
AHI1
1.000 0.040 6 135442577 splice region variant C/A snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs386834252
rs386834252
LCA5 ; LOC100506851
0.925 0.040 6 79489164 frameshift variant G/- delins 4.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs386834253
rs386834253
LCA5 ; LOC100506851
0.925 0.040 6 79487621 frameshift variant -/T delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
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: 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: rs773372519
rs773372519
CNGB3
0.925 0.120 8 86644689 splice region variant A/C;G snv 1.3E-05; 8.9E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs781781440
rs781781440
CDHR1
0.925 0.040 10 84200685 frameshift variant -/A delins 8.4E-06; 4.2E-06 2.1E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2019 2019
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: 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: 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: rs1555220638
rs1555220638
CEP290
1.000 0.040 12 88114573 intron variant A/C snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs1555222073
rs1555222073
CEP290
1.000 0.040 12 88118638 missense variant C/T snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
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