rs879255246
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).
|
27082237 |
2016 |
rs606231410
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
|
25633957 |
2015 |
rs794729665
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
|
25601850 |
2015 |
rs1057519601
|
|
CCAGGCCCGTGCAGCTC |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057519603
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057519604
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519606
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519607
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs144964568
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1566538321
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs772862268
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs774056663
|
|
AATAGTATT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs878854415
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs35887622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We concluded that p.Met34Thr and p.Val37Ile variants in GJB2 are pathogenic for autosomal recessive nonsyndromic hearing loss with variable expressivity and incomplete penetrance.
|
31160754 |
2019 |
rs35887622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To estimate the prevalence of 35delG and Met34Thr variants in a Portuguese children's community sample and to compare these frequencies with nonsyndromic hearing-loss patients.
|
26482070 |
2015 |
rs35887622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
One of the more controversial allele variants, M34T, has been hypothesized to cause autosomal dominant nonsyndromic hearing loss.
|
11216656 |
2000 |
rs35887622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The missense mutation 101T-->C has been reported to be a dominant allele of DFNA3, a dominant nonsyndromic hearing loss.
|
9529365 |
1998 |
rs121908354
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis.
|
30367262 |
2019 |
rs72474224
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We concluded that p.Met34Thr and p.Val37Ile variants in GJB2 are pathogenic for autosomal recessive nonsyndromic hearing loss with variable expressivity and incomplete penetrance.
|
31160754 |
2019 |
rs121908354
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.
|
26264712 |
2015 |
rs28931593
|
|
|
0.020 |
GeneticVariation |
BEFREE |
To the best of our knowledge, this is the first report from India on p.R75Q mutation in the GJB2 gene with nonsyndromic hearing loss.
|
25393658 |
2015 |
rs72474224
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The c.235delC mutation showed a particularly wide spectrum of hearing loss, from mild to profound and significantly better hearing thresholds at 250 Hz and 2k Hz than in the non-p.V37I and non-235delC nonsyndromic hearing loss and deafness 1(DFNB1) subjects.
|
26061264 |
2015 |
rs104894396
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This study aims to determine the prevalence of GJB2-35delG, GJB2-167delT, GJB2-235delC, GJB2-W24X, del (GJB6-D13S1830), and del (GJB6-D13S1854) mutations in patients with nonsyndromic deafness in the Espirito Santo State, Brazil.
|
20563649 |
2011 |
rs104894396
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania.
|
20096468 |
2010 |
rs28931593
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.
|
15996214 |
2005 |