ClinVar Miner

Variants studied for Hearing impairment

Coded as:
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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
54 93 291 17 5 455

Gene and significance breakdown #

Total genes and gene combinations: 111
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GJB2 27 6 0 0 0 30
MYO7A 0 3 16 0 0 19
ADGRV1 0 2 15 1 0 18
MYO15A 3 7 8 0 0 18
USH2A 3 3 12 1 0 18
CDH23 0 5 9 1 0 15
TBCEL-TECTA, TECTA 0 3 11 1 0 15
LOXHD1 0 7 7 0 0 14
SLC26A4 3 4 5 1 0 13
TMPRSS3 1 9 3 0 0 13
COL11A1 2 2 6 1 0 11
COL11A2 0 1 10 0 0 11
MYO6 0 2 9 0 0 11
OTOF 2 2 6 0 0 10
OTOG 0 1 8 0 0 9
TRIOBP 0 2 6 1 0 9
MYH14 0 0 6 1 1 8
PDZD7 0 0 7 0 0 7
USH1C 0 1 6 0 0 7
TNC 0 0 5 1 0 6
WFS1 1 3 2 0 0 6
CLDN14 2 1 2 0 0 5
DIAPH3 0 1 4 0 0 5
OTOGL 0 0 5 0 0 5
PTPRQ 0 0 4 0 1 5
ALMS1 0 1 3 0 0 4
CACNA1D 0 1 3 0 0 4
CHD7 0 0 3 1 0 4
COCH, LOC100506071 0 2 2 0 0 4
COL4A3, MFF-DT 0 2 2 0 0 4
GIPC3 0 0 4 0 0 4
ILDR1 0 1 3 0 0 4
MYH9 0 0 3 0 1 4
PCDH15 0 0 4 0 0 4
POU4F3 0 1 2 1 0 4
WHRN 0 0 3 1 0 4
CEACAM16 0 0 3 0 0 3
CLRN1 0 2 1 0 0 3
COL9A1 0 0 3 0 0 3
COL9A3 0 0 3 0 0 3
DIAPH1 0 1 2 0 0 3
KARS1 0 0 2 1 0 3
MYO3A 0 1 2 0 0 3
SIX1 0 0 3 0 0 3
STRC 2 0 1 0 0 3
TJP2 0 0 3 0 0 3
TMC1 2 0 1 0 0 3
USH1G 1 3 0 0 0 3
ACTG1 0 1 1 0 0 2
ATP6V1B1 0 0 2 0 0 2
BSND 1 0 1 0 0 2
COL2A1 0 0 1 0 1 2
COL4A5 1 0 1 0 0 2
EDNRB 0 1 1 0 0 2
EYA1 0 0 2 0 0 2
EYA4, TARID 0 1 1 0 0 2
FOXI1 0 0 2 0 0 2
GATA3 0 1 1 0 0 2
KCNQ4 0 1 1 0 0 2
LHFPL5 0 1 1 0 0 2
MANBA 0 1 1 0 0 2
MARVELD2 0 2 0 0 0 2
OTOA 0 0 2 0 0 2
PAX3 0 0 2 0 0 2
PJVK 0 0 2 0 0 2
PLS1 0 0 2 0 0 2
POLR1C 0 0 2 0 0 2
PTPRS 0 0 2 0 0 2
RDX 0 0 2 0 0 2
SLITRK6 0 0 2 0 0 2
SMPX 0 1 1 0 0 2
TCOF1 0 0 1 1 0 2
ABHD12 0 0 1 0 0 1
ATP2B2 0 0 1 0 0 1
B3GNT4, DIABLO 0 0 1 0 0 1
BDP1 0 0 1 0 0 1
BMP2 0 0 1 0 0 1
C10orf105, CDH23 0 0 1 0 0 1
CABP2 0 0 1 0 0 1
CHSY1 0 0 1 0 0 1
CIB2 1 0 0 0 0 1
CLCC1, GPSM2 0 0 1 0 0 1
CLDN9 0 0 1 0 0 1
CLIC5 0 0 1 0 0 1
COL4A4 0 0 1 0 0 1
DMXL2 0 0 0 1 0 1
DSPP 0 0 1 0 0 1
ESRRB 0 0 1 0 0 1
EYA4 0 0 1 0 0 1
GJB6 0 0 1 0 0 1
GRHL2 0 0 1 0 0 1
GRXCR1 0 1 0 0 0 1
GSDME 0 0 0 1 0 1
HGF 0 0 1 0 0 1
KCNQ1 0 0 1 0 0 1
LRTOMT, TOMT 0 0 0 1 0 1
MAP3K1 0 0 1 0 0 1
MIR96 0 0 1 0 0 1
MITF 1 0 0 0 0 1
NDP 0 1 0 0 0 1
NLRP3 0 0 0 0 1 1
POLR1D 0 0 1 0 0 1
POLR2F, SOX10 0 0 1 0 0 1
SEMA3F 0 0 1 0 0 1
SERPINB6 0 0 1 0 0 1
SLC26A5 0 0 1 0 0 1
SPNS2 0 0 1 0 0 1
TMIE 0 1 0 0 0 1
TPRN 0 0 1 0 0 1
TSPEAR 0 0 1 0 0 1
TYR 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 26 83 268 17 5 399
Genetic Services Laboratory, University of Chicago 25 0 0 0 0 25
University of Washington Center for Mendelian Genomics, University of Washington 0 6 8 0 0 14
Center for Statistical Genetics, Columbia University 4 1 9 0 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 4 5 0 0 14
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 6 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 0 0 0 0 5
New York Genome Center 0 0 2 0 0 2
CSER _CC_NCGL, University of Washington 1 0 0 0 0 1
Laboratory of Molecular Genetics,National Institutes of Health 1 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 0 1 0 0 1

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