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: rs61750168
rs61750168
GUCY2D
0.851 0.080 17 8013918 missense variant C/G;T snv 4.0E-06; 1.5E-04
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.800 1.000 7 1996 2018
dbSNP: rs61749755
rs61749755
GUCY2D
1.000 0.040 17 8009531 missense variant T/C snv 4.0E-06
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.800 1.000 0 1996 2018
dbSNP: rs62645748
rs62645748
CRB1
0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.710 1.000 0 2008 2008
dbSNP: rs757823463
rs757823463
GUCY2D
0.925 0.080 17 8016291 splice donor variant G/C snv 5.8E-06
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 1.000 4 2000 2013
dbSNP: rs61749670
rs61749670
GUCY2D
0.882 0.080 17 8003434 frameshift variant C/- delins 1.7E-05 7.0E-06
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 1.000 2 1996 2010
dbSNP: rs1327062642
rs1327062642
TULP1
0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 1.000 1 2017 2017
dbSNP: rs1555635778
rs1555635778
GUCY2D
0.925 0.080 17 8014751 stop gained C/T snv
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 1.000 1 1999 1999
dbSNP: rs1006935198
rs1006935198
GUCY2D
0.882 0.080 17 8015048 stop gained C/G snv
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 0
dbSNP: rs1300041533
rs1300041533
PROM1
1.000 0.040 4 15992281 frameshift variant AT/- delins 4.0E-06
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 0
dbSNP: rs1555635550
rs1555635550
GUCY2D
1.000 0.040 17 8013073 splice donor variant GCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCG/- delins
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 0
dbSNP: rs1555635668
rs1555635668
GUCY2D
1.000 0.040 17 8013992 frameshift variant G/- delins
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 0
dbSNP: rs1567958644
rs1567958644
GUCY2D
1.000 0.040 17 8007070 frameshift variant G/- delins
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 0
dbSNP: rs398124615
rs398124615
CRB1
0.827 0.080 1 197328844 inframe insertion AATTGATGG/-;AATTGATGGAATTGATGG delins 7.7E-04
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 0
dbSNP: rs61749671
rs61749671
GUCY2D
1.000 0.040 17 8003667 frameshift variant C/- delins
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 0
dbSNP: rs61749758
rs61749758
GUCY2D
1.000 0.040 17 8012352 splice donor variant T/A;C snv
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 0
dbSNP: rs62645747
rs62645747
CRB1
0.882 0.040 1 197429614 missense variant T/A;C snv
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 0
dbSNP: rs62645752
rs62645752
CRB1
0.882 0.080 1 197328961 frameshift variant ATAGGAA/- delins
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 0
dbSNP: rs747512450
rs747512450
PROM1
1.000 0.040 4 16075768 frameshift variant G/- delins 2.8E-05
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 0
dbSNP: rs750889782
rs750889782
GUCY2D
0.925 0.040 17 8013919 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 0
dbSNP: rs763890649
rs763890649
GUCY2D
1.000 0.040 17 8006375 frameshift variant TT/- delins 4.2E-06
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 0
dbSNP: rs780667159
rs780667159
RPGRIP1
0.925 0.040 14 21328469 stop gained C/T snv 4.0E-06
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.700 0