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: 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: 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: 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: 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: 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: rs1191496583
rs1191496583
RPE65
1.000 0.040 1 68444607 missense variant C/T snv 1.6E-05 1.3E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs121918844
rs121918844
RPE65
1.000 0.040 1 68444665 frameshift variant A/-;AA delins 4.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs1420672586
rs1420672586
RPE65
1.000 0.040 1 68431282 missense variant C/A snv 1.2E-05 2.1E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs1429137932
rs1429137932
RPE65
1.000 0.040 1 68446713 missense variant C/A snv 4.8E-05 8.4E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs150412614
rs150412614
CRB1
1.000 0.040 1 197427555 stop gained C/A;G;T snv 5.6E-04; 8.0E-06; 1.2E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs1553128102
rs1553128102
NMNAT1
1.000 0.040 1 9982346 missense variant C/A snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
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: rs1553261468
rs1553261468
CRB1
1.000 0.040 1 197427543 frameshift variant -/C delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs192907397
rs192907397
RPE65
1.000 0.040 1 68439568 missense variant C/A;T snv 3.6E-05; 4.0E-06
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: rs386834260
rs386834260
RD3
0.925 0.040 1 211481119 splice donor variant C/A;T snv 4.0E-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: 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: 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
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: 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: 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