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: rs371496675
rs371496675
CEP290
12 88117076 stop gained A/T snv 1.7E-05 1.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs878853361
rs878853361
CEP290
12 88083858 stop gained G/A snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs878853362
rs878853362
CEP290
12 88093897 frameshift variant TA/- delins 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs1226324483
rs1226324483
CEP290
1.000 0.040 12 88083083 stop gained G/A snv
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		0.700 0
dbSNP: rs137852833
rs137852833
CEP290
1.000 0.040 12 88111320 stop gained A/C snv 5.3E-06 2.1E-05
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		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: rs1555222073
rs1555222073
CEP290
1.000 0.040 12 88118638 missense variant C/T snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs587779733
rs587779733
CEP290
1.000 0.040 12 88084669 frameshift variant T/- delins
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 0
dbSNP: rs587783009
rs587783009
CEP290
1.000 0.040 12 88118482 splice donor variant C/T snv 1.2E-05
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		0.700 0
dbSNP: rs587783010
rs587783010
CEP290
1.000 0.040 12 88111320 frameshift variant AA/- delins
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		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: rs1057518822
rs1057518822
CEP290
1.000 0.080 12 88102888 stop gained G/A snv
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs1057518822
rs1057518822
CEP290
1.000 0.080 12 88102888 stop gained G/A snv
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		0.700 0
dbSNP: rs1057518822
rs1057518822
CEP290
1.000 0.080 12 88102888 stop gained G/A snv
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs281865188
rs281865188
CEP290
1.000 0.080 12 88077281 frameshift variant -/T delins 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs878855334
rs878855334
CEP290
1.000 0.080 12 88077224 stop gained T/A;C snv 4.2E-06
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.700 0
dbSNP: rs1555202126
rs1555202126
CEP290
0.925 0.120 12 88071929 splice region variant G/C snv
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia 		0.700 0
dbSNP: rs1555202126
rs1555202126
CEP290
0.925 0.120 12 88071929 splice region variant G/C snv
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.700 0
dbSNP: rs771266705
rs771266705
CEP290
1.000 0.120 12 88120213 frameshift variant TTTTA/- delins 6.7E-06
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		0.700 0
dbSNP: rs886039805
rs886039805
CEP290
0.925 0.120 12 88129872 frameshift variant AA/- delins
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.700 0
dbSNP: rs886039805
rs886039805
CEP290
0.925 0.120 12 88129872 frameshift variant AA/- delins
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 0
dbSNP: rs886039805
rs886039805
CEP290
0.925 0.120 12 88129872 frameshift variant AA/- delins
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		0.700 0
dbSNP: rs886039805
rs886039805
CEP290
0.925 0.120 12 88129872 frameshift variant AA/- delins
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		0.700 0
dbSNP: rs886039805
rs886039805
CEP290
0.925 0.120 12 88129872 frameshift variant AA/- delins
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.700 0
dbSNP: rs886042153
rs886042153
CEP290
0.925 0.160 12 88106770 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.700 1.000 1 2019 2019