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: 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: rs386834241
rs386834241
SPATA7
0.925 0.080 14 88429394 frameshift variant -/A delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
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: rs386834239
rs386834239
GUCY2D
1.000 0.040 17 8016448 frameshift variant -/ACCA delins
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: rs1555635925
rs1555635925
GUCY2D
1.000 0.040 17 8015981 frameshift variant -/CGTGCTCT ins
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: 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: rs386834243
rs386834243
SPATA7
0.925 0.080 14 88438016 frameshift variant A/- delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs61751266
rs61751266
RPGRIP1
0.925 0.040 14 21312458 frameshift variant A/- delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs776880045
rs776880045
RPGRIP1
1.000 0.040 14 21312468 frameshift variant A/- delins 3.5E-05
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: 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: 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: rs1556313557
rs1556313557
RP2
1.000 0.040 X 46837205 splice region variant A/C snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
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: rs574462207
rs574462207
RPGRIP1
1.000 0.040 14 21302561 synonymous variant A/G snv 4.8E-06 1.4E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs62637012
rs62637012
AIPL1
0.925 0.040 17 6426684 missense variant A/G snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs62637011
rs62637011
AIPL1
1.000 0.040 17 6426906 missense variant A/T snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
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: 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: rs1569531639
rs1569531639
RP2
1.000 0.040 X 46853857 frameshift variant AGGGC/- delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
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: 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: rs869312175
rs869312175
CRX
1.000 0.040 19 47839715 frameshift variant C/- del
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2016 2016