rs1064797089
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1064797090
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1064797090
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss.
|
20863150 |
2011 |
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.
|
11584050 |
2001 |
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
|
25388846 |
2015 |
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
|
17935238 |
2007 |
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
|
15365987 |
2004 |
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.
|
11493200 |
2001 |
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
GJB2 mutations: passage through Iran.
|
15666300 |
2005 |
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss.
|
22613756 |
2012 |
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Detection of mutations in genes associated with hearing loss using a microarray-based approach.
|
16931589 |
2006 |
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular epidemiology of DFNB1 deafness in France.
|
15070423 |
2004 |
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
|
15617550 |
2005 |
rs111033293
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs111033294
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs111033295
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.
|
16222667 |
2005 |
rs111033295
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Clinical presentation of DFNB1.
|
12408072 |
2002 |
rs111033295
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
|
17041943 |
2006 |
rs111033295
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
|
17666888 |
2007 |
rs111033295
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
|
12865758 |
2004 |
rs111033295
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
GJB2 mutations in Baluchi population.
|
18776652 |
2008 |
rs111033295
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs111033295
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Unique spectrum of GJB2 mutations in Mexico.
|
22925408 |
2012 |
rs111033295
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
|
26444186 |
2016 |