ClinVar Miner

Variants from Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital

Location: China — Primary collection method: case-control
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
66 48 0 0 0 114

Gene and significance breakdown #

Total genes and gene combinations: 37
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic total
SLC26A4 14 15 29
GJB2 9 3 12
MYO15A 5 6 11
ADGRV1 4 2 6
MYO7A 4 2 6
TRIOBP 2 2 4
CDH23 2 1 3
ERCC2 3 0 3
MYO3A 2 1 3
OTOF 2 1 3
PCDH15 2 1 3
TMC1 3 0 3
TPRN 1 1 2
USH1C 1 1 2
USH2A 2 0 2
ACTG1 0 1 1
ANAPC15, LRTOMT 0 1 1
C10orf105, CDH23 1 0 1
CLDN14 0 1 1
DSPP 0 1 1
EDNRB 0 1 1
ERCC3 1 0 1
FGF3 0 1 1
FGFR3 0 1 1
GIPC3 1 0 1
GJB3 1 0 1
ILDR1 1 0 1
KCNQ1 0 1 1
KCNQ4 0 1 1
MARVELD2 0 1 1
MITF 0 1 1
POU3F4 1 0 1
STRC 0 1 1
TECTA 1 0 1
TMPRSS3 1 0 1
USH1G 1 0 1
WHRN 1 0 1

Condition and significance breakdown #

Total conditions: 35
Download table as spreadsheet
Condition pathogenic likely pathogenic total
Enlarged vestibular aqueduct 14 15 29
Deafness, autosomal recessive 1A 10 3 13
Deafness, autosomal recessive 3 5 6 11
Deafness, autosomal recessive 2 4 2 6
Usher syndrome, type 2C 4 2 6
Deafness, autosomal recessive 12 3 1 4
Deafness, autosomal recessive 28 2 2 4
Deafness, autosomal recessive 23 2 1 3
Deafness, autosomal recessive 30 2 1 3
Deafness, autosomal recessive 7 3 0 3
Deafness, autosomal recessive 9 2 1 3
Xeroderma pigmentosum, group D 3 0 3
Deafness, autosomal recessive 18 1 1 2
Deafness, autosomal recessive 79 1 1 2
Usher syndrome, type 2A 2 0 2
Camptodactyly, tall stature, and hearing loss syndrome 0 1 1
DFNA 2 Nonsyndromic Hearing Loss 0 1 1
Deafness with labyrinthine aplasia microtia and microdontia (LAMM) 0 1 1
Deafness, X-linked 2 1 0 1
Deafness, autosomal dominant 20 0 1 1
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 0 1 1
Deafness, autosomal recessive 15 1 0 1
Deafness, autosomal recessive 16 0 1 1
Deafness, autosomal recessive 21 1 0 1
Deafness, autosomal recessive 29 0 1 1
Deafness, autosomal recessive 31 1 0 1
Deafness, autosomal recessive 42 1 0 1
Deafness, autosomal recessive 49 0 1 1
Deafness, autosomal recessive 63 0 1 1
Deafness, autosomal recessive 8 1 0 1
Long QT syndrome 1 0 1 1
Usher syndrome, type 1G 1 0 1
Waardenburg syndrome type 1 0 1 1
Waardenburg syndrome type 4A 0 1 1
Xeroderma pigmentosum, complementation group b 1 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.