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: rs1554768245
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs886039799
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1554558365
rs1554558365
TMEM67
0.925 0.120 8 93804851 inframe insertion -/TATGAA delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs201893408
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs765468645
rs765468645
TMEM67
0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs775796581
rs775796581
CNGB3
0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs730882209
rs730882209
SETX
0.925 0.080 9 132326375 frameshift variant -/C delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs144078282
rs144078282
CLPB
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs200203460
rs200203460
CLPB
0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs375817528
rs375817528
CAPN1
0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs61754381
rs61754381
TYR ; LOC107984363
0.790 0.200 11 89227816 splice region variant T/A;C snv 9.5E-04; 8.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1057518822
rs1057518822
CEP290
1.000 0.080 12 88102888 stop gained G/A snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1135402761
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs137852834
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs878853250
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1057518843
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1555350397
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs377274761
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs886039809
rs886039809
KIAA0586
0.807 0.480 14 58498824 frameshift variant A/- del
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0