ClinVar Miner

Variants studied for Hearing impairment

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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
52 97 309 14 6 472

Gene and significance breakdown #

Total genes and gene combinations: 125
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GJB2 27 6 1 0 0 30
MYO15A 3 7 10 0 0 20
MYO7A 1 1 17 0 0 19
ADGRV1 0 2 15 1 0 18
USH2A 3 2 12 1 0 17
CDH23 0 5 9 1 0 15
LOXHD1 0 7 7 0 0 14
SLC26A4 3 4 6 1 0 14
TBCEL-TECTA, TECTA 0 2 11 1 0 14
TMPRSS3 1 6 6 0 0 13
MYO6 0 3 9 0 0 12
COL11A2 0 0 10 1 0 11
COL11A1 0 4 6 0 0 10
OTOF 1 3 6 0 0 10
OTOG 1 1 8 0 0 10
MYH14 0 0 7 0 1 8
TRIOBP 0 1 6 1 0 8
PDZD7 0 0 7 0 0 7
USH1C 0 1 6 0 0 7
WFS1 0 4 2 0 0 6
CLDN14 1 2 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
TNC 0 0 4 1 0 5
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 1 3 0 0 4
GIPC3 0 0 4 0 0 4
ILDR1 0 1 3 0 0 4
LOC127814297, POU4F3 0 1 2 1 0 4
LRP2 2 2 0 0 0 4
MYH9 0 0 3 0 1 4
PCDH15 0 0 4 0 0 4
TMC1 2 1 1 0 0 4
WHRN 0 0 3 1 0 4
ALMS1 0 1 2 0 0 3
CEACAM16 0 0 3 0 0 3
CLRN1 0 2 1 0 0 3
COL9A1 0 0 3 0 0 3
DIAPH1 0 1 2 0 0 3
MYO3A 0 1 2 0 0 3
OTOA 0 0 2 0 1 3
SIX1 0 0 3 0 0 3
STRC 2 0 1 0 0 3
TJP2 0 0 3 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 0 1 1 0 0 2
COL9A3 0 0 2 0 0 2
EDNRB 0 1 1 0 0 2
ESRRB 0 1 1 0 0 2
EYA1 0 0 2 0 0 2
EYA4, TARID 0 1 1 0 0 2
FOXI1 0 1 1 0 0 2
GATA3 0 1 1 0 0 2
GJB6 0 0 1 0 1 2
KARS1 0 0 1 1 0 2
KCNQ4 0 1 1 0 0 2
LHFPL5 0 1 1 0 0 2
LOC126806529, PAX3 0 0 2 0 0 2
MANBA 0 1 1 0 0 2
MARVELD2 0 2 0 0 0 2
MITF 1 0 1 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
ALMS1, LOC126806252 0 0 1 0 0 1
ARID3B, C15orf39, CCDC33, CLK3, COMMD4, COX5A, CPLX3, CSK, CSPG4, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6C, GOLGA6D, IMP3, ISLR, ISLR2, LMAN1L, MAN2C1, MPI, NEIL1, ODF3L1, PPCDC, PTPN9, RPP25, SCAMP2, SCAMP5, SEMA7A, SIN3A, SNUPN, SNX33, STRA6, UBL7, ULK3 1 0 0 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
CATSPER2, CKMT1A, CKMT1B, STRC 0 0 0 0 1 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
COL11A1, LOC126805814 0 0 1 0 0 1
COL4A4 0 0 1 0 0 1
COL9A3, LOC126863084 0 0 1 0 0 1
DMXL2 0 0 0 1 0 1
DSPP 0 0 1 0 0 1
ERAL1, LOC126862526 0 0 1 0 0 1
EYA4 0 0 1 0 0 1
GJB3 0 0 1 0 0 1
GRHL2 0 0 1 0 0 1
GRXCR1 0 1 0 0 0 1
GSDME 0 0 1 0 0 1
HGF 0 0 1 0 0 1
KARS1, LOC126862402 0 0 1 0 0 1
KCNQ1 0 0 1 0 0 1
LOC122152296, USH2A 0 0 1 0 0 1
LOC126860740, TNC 0 0 1 0 0 1
LOC126861365, TBCEL-TECTA, TECTA 0 1 0 0 0 1
LOC126863145, TRIOBP 0 0 1 0 0 1
LRTOMT, TOMT 0 0 1 0 0 1
MAP3K1 0 0 1 0 0 1
MIR96 0 0 1 0 0 1
NDP 0 1 0 0 0 1
NLRP3 0 0 0 0 1 1
OXR1 0 1 0 0 0 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 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 18 79 283 14 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 1 0 8 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 0 0 0 0 5
Yale Center for Mendelian Genomics, Yale University 1 4 0 0 0 5
National Institute on Deafness and Communication Disorders, National Institutes of Health 2 2 0 0 0 4
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
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Angen Gene Medicine Technology 0 1 0 0 0 1

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