rs121918581
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1360937549
|
|
AG |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs527236088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs527236089
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs527236090
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs781003757
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs876657718
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs970990957
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs727504075
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
|
25097241 |
2014 |
rs1553812554
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
|
20591486 |
2010 |
rs863223339
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
|
26497376 |
2015 |
rs121918582
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Individuals with CSNB in the Rambusch pedigree were found to carry the H258N allele of PDE6B (MIM# 180072); a similar mutation was not found in RP patients.
|
17044014 |
2007 |
rs370898371
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs527236091
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs727504075
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs869312177
|
|
TCTGGG |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs727504075
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
|
7724547 |
1995 |
rs760766981
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
|
7724547 |
1995 |
rs370898371
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Next-generation genetic testing for retinitis pigmentosa.
|
22334370 |
2012 |
rs555600300
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Next-generation genetic testing for retinitis pigmentosa.
|
22334370 |
2012 |
rs555600300
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
|
26667666 |
2015 |
rs201541131
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.
|
25823529 |
2015 |
rs121918579
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.
|
8394174 |
1993 |