Gene: CEP290 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs386834158
rs386834158
CEP290
10 0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs137852832
rs137852832
CEP290
17 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
dbSNP: rs371496675
rs371496675
CEP290
1 12 88117076 stop gained A/T snv 1.7E-05 1.4E-05 0.700 0
dbSNP: rs747835249
rs747835249
CEP290
4 0.882 0.200 12 88114418 splice donor variant CA/- delins 2.0E-05 0.700 0
dbSNP: rs878853361
rs878853361
CEP290
1 12 88083858 stop gained G/A snv 0.700 0
dbSNP: rs878853362
rs878853362
CEP290
1 12 88093897 frameshift variant TA/- delins 4.0E-06 0.700 0