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: rs574936510
rs574936510
NR2E3
1.000 0.040 15 71817619 frameshift variant TTT/-;T;TT delins 4.0E-06
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: rs121908449
rs121908449
RGS9
1.000 0.040 17 65197160 missense variant T/C snv 1.2E-04 1.8E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2019 2019
dbSNP: rs1553152989
rs1553152989
RPE65
1.000 0.040 1 68438214 synonymous variant T/C 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
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: rs786204787
rs786204787
SPATA7
1.000 0.040 14 88391457 splice donor variant T/C snv
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
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: rs747653875
rs747653875
NMNAT1
1.000 0.040 1 9982597 missense variant G/C snv 4.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs61749423
rs61749423
ABCA4
0.925 0.040 1 94060656 stop gained G/A;T snv 8.0E-06; 4.4E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 1999 1999
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: rs28937883
rs28937883
RPGRIP1
0.925 0.080 14 21325943 missense variant G/A;T snv 6.0E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs768028061
rs768028061
SPATA7
1.000 0.040 14 88437597 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs768528387
rs768528387
NMNAT1
1.000 0.040 1 9975631 missense variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs371609982
rs371609982
SPATA7
1.000 0.040 14 88385837 missense variant G/A;C;T snv 1.3E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
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: 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: 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: rs137853124
rs137853124
RPGRIP1
0.925 0.040 14 21294785 stop gained G/A snv
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: 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: 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: 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: rs1057518122
rs1057518122
RPGRIP1
1.000 0.040 14 21334710 splice region variant G/A snv 8.8E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0