ClinVar Miner

Variants studied for autosomal dominant nonsyndromic hearing loss

Included ClinVar conditions (118):
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 not provided total
584 608 3751 1807 774 47 7338

Gene and significance breakdown #

Total genes and gene combinations: 164
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DIAPH1 30 10 844 623 42 0 1526
TBC1D24 62 18 347 259 22 1 700
WFS1 34 51 397 105 58 5 623
MYO7A 72 102 241 66 93 1 549
MYH9 11 5 304 96 37 1 446
ACTG1 14 27 95 255 58 1 427
MYH14 10 6 156 31 55 2 255
MYO6 14 9 117 32 53 0 224
TBCEL-TECTA, TECTA 15 15 120 25 29 1 199
GJB2 64 59 43 22 21 16 183
NLRP3 4 2 131 31 1 0 168
SIX1 9 7 82 47 13 0 145
TMC1 15 32 47 10 13 1 112
KCNQ4 26 11 34 11 17 8 99
SLC17A8 3 2 61 10 14 0 88
COL11A2 6 23 34 4 16 2 85
GSDME 7 3 39 13 23 0 84
GJB6 5 0 45 25 9 2 82
EYA4, TARID 4 5 44 12 15 0 79
TNC 3 2 24 3 48 0 78
COL11A1 8 9 36 3 18 1 74
LOC127814297, POU4F3 20 19 29 1 5 2 73
EYA4 8 10 31 5 9 0 62
COCH, LOC100506071 13 9 14 9 7 0 51
REST 2 1 39 2 0 0 43
LHFPL5 0 3 34 2 0 0 39
SLC12A2 5 3 11 16 2 0 36
DMXL2 2 4 11 2 12 0 30
PTPRQ 3 4 8 1 13 0 28
RDX 0 0 22 4 0 0 26
CDH23 1 12 10 2 0 0 25
CDH23, PSAP 0 0 15 8 0 0 23
LOC126863137, MYH9 0 0 12 8 2 0 22
ACTG1, LOC130061940 1 1 6 8 7 0 20
SLC26A4 1 16 3 0 0 0 20
CCDC50 2 1 5 0 11 0 19
DIAPH3 3 0 11 2 4 0 19
LOC126861365, TBCEL-TECTA, TECTA 1 1 12 3 3 0 19
MYO15A 3 9 7 0 0 0 19
COCH 0 0 9 6 3 0 18
OTOF 1 12 3 1 0 0 17
TRRAP 1 2 12 0 2 1 17
P2RX2 2 1 7 1 4 1 16
ATP2B2 6 2 6 0 0 1 15
GJB3 3 1 7 3 1 0 15
MAP1B 2 1 10 2 0 0 15
MYO3A 3 0 11 1 0 0 15
LMX1A 4 3 5 0 2 0 14
MIR9718, SIX1 0 0 12 2 0 0 14
PDE1C 1 3 5 1 5 0 14
CEACAM16 4 1 6 2 0 0 13
GREB1L 4 4 3 0 2 0 13
GRHL2 1 3 4 1 3 0 12
TMPRSS3 1 6 3 2 0 0 12
CRYM 2 0 5 1 3 0 11
PCDH15 1 1 9 0 0 0 11
GREB1L, LOC101927521 5 2 4 0 0 0 10
LOC129992166, WFS1 0 0 7 3 0 0 10
MCM2 1 1 7 0 2 0 10
OSBPL2 4 0 2 0 4 0 10
PLS1 4 1 6 0 2 0 10
SLC44A4 1 0 1 0 7 0 9
MYO1A 0 0 4 4 0 0 8
DIABLO 1 2 3 0 1 0 7
HOMER2 3 2 2 0 0 0 7
PJVK 0 4 3 0 0 0 7
KITLG 2 2 1 1 0 0 6
LOC129994526, SLC12A2 0 0 4 2 0 0 6
LOXHD1 1 0 4 1 0 0 6
ELMOD3 1 0 4 1 0 0 5
GPSM2 2 1 1 1 0 0 5
ILDR1 0 5 0 0 0 0 5
TJP2 3 2 0 0 0 0 5
TMIE 0 2 3 0 0 0 5
USH2A 1 3 1 0 0 0 5
ATP11A 1 1 2 0 0 0 4
C10orf105, CDH23 0 3 1 0 0 0 4
MARVELD2 0 2 2 0 0 0 4
PI4KB 4 0 0 0 0 0 4
PJVK, PRKRA 0 0 0 4 0 0 4
RIPOR2 1 0 2 1 0 0 4
ANAPC15, LRTOMT 0 0 2 1 0 0 3
ANAPC15, LRTOMT, TOMT 0 0 2 1 0 0 3
CIB2 0 3 0 0 0 0 3
ESRRB 0 1 1 1 0 0 3
GRXCR1 0 2 1 0 0 0 3
LOC112695089, MYH9 0 0 3 0 0 0 3
LOC126861538, MYO1A 0 0 2 2 0 0 3
LRTOMT 0 0 2 1 0 0 3
OTOA 1 2 0 0 0 0 3
OTOG 0 2 1 0 0 0 3
PDZD7 2 0 1 0 0 0 3
STRC 3 0 0 0 0 0 3
TRIOBP 1 2 0 0 0 0 3
USH1C 0 2 0 0 1 0 3
USP48 2 0 1 0 0 0 3
WHRN 0 1 1 1 0 0 3
ANKRD36 0 2 0 0 0 0 2
B3GNT4, DIABLO 0 1 1 0 0 0 2
BSND 1 1 0 0 0 0 2
CABP2 1 1 0 0 0 0 2
CCNF, TBC1D24 0 0 1 1 0 0 2
CDH23, LOC111982869 0 2 0 0 0 0 2
CLDN14 1 1 0 0 0 0 2
COL11A1, LOC126805814 0 0 2 0 0 0 2
CRYM, LOC130058620 0 0 2 0 0 0 2
EPHA10 1 0 1 0 0 0 2
EYA4, LOC126859796, TARID 0 1 1 0 0 0 2
GPR156 0 2 0 0 0 0 2
GSDME, LOC129998098 0 0 0 1 1 0 2
GSDME, LOC129998104 0 0 2 0 0 0 2
LOC123956210, SLC26A4 1 1 0 0 0 0 2
LOC130055766, SIX1 0 0 2 0 0 0 2
LRRC51, LRTOMT 0 0 2 0 0 0 2
MIR96 2 0 0 0 0 0 2
OTOGL 0 1 1 0 0 0 2
THOC1 1 0 1 0 0 0 2
USH1G 0 2 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ABCA3, BRICD5, CASKIN1, CCNF, DNASE1L2, E4F1, ECI1, EME2, FAHD1, GFER, HAGH, HS3ST6, IGFALS, MEIOB, MIR1225, MLST8, MRPS34, MSRB1, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, NTN3, NUBP2, PGP, PKD1, RAB26, RNF151, RNPS1, RPL3L, RPS2, SNHG9, SPSB3, SYNGR3, TBC1D24, TBL3, TEDC2, TRAF7, TSC2, ZNF598 0 0 1 0 0 0 1
ABCA3, BRICD5, CASKIN1, CCNF, DNASE1L2, E4F1, ECI1, MIR1225, MLST8, NTN3, PGP, PKD1, RAB26, RNPS1, TBC1D24, TEDC2, TRAF7, TSC2 0 0 1 0 0 0 1
ABCC1 1 0 0 0 0 0 1
ADGRV1 0 1 0 0 0 0 1
AMDHD2, ATP6V0C, BICDL2, CEMP1, CLDN6, CLDN9, ELOB, FLYWCH1, FLYWCH2, HCFC1R1, IL32, KCTD5, KREMEN2, MMP25, PAQR4, PDPK1, PKMYT1, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, SRRM2, TBC1D24, THOC6, TNFRSF12A, ZG16B, ZSCAN10 1 0 0 0 0 0 1
ATOH1 1 0 0 0 0 0 1
ATP11A, LOC130010167 1 0 0 0 0 0 1
BIN1 0 0 1 0 0 0 1
CD164 1 1 0 0 0 0 1
CLCC1, GPSM2 0 0 1 0 0 0 1
CLCNKA, LOC106501712 0 1 0 0 0 0 1
CLIC5 0 1 0 0 0 0 1
CNRIP1, LOC101927723, LOC115945159, LOC122757962, LOC129933976, LOC129933977, LOC129933978, LOC129933979, LOC129933980, LOC129933981, LOC129933982, LOC129933983, LOC129933984, LOC129933985, LOC129933986, LOC129933987, LOC129933988, LOC129933989, LOC129933990, LOC129933991, LOC132088853, LOC132088854, PLEK, PPP3R1 1 0 0 0 0 0 1
COL11A1, RNPC3 0 1 0 0 0 0 1
CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, LOC112163647, LOC121466728, LOC124849292, LOC126861703, LOC126861704, LOC126861705, LOC130009312, LOC130009313, LOC130009314, LOC130009315, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC130009325, LOC130009326, LOC130009327, LOC130009328, LOC130009329, LOC132090175, MIR4499, XPO4 0 0 1 0 0 0 1
CRYL1, GJB6 0 0 1 0 0 0 1
DELEC1, PAPPA, TNC, TNFSF8 0 0 1 0 0 0 1
EDNRB 0 1 0 0 0 0 1
EPS8 0 1 0 0 0 0 1
ESPN 0 1 0 0 0 0 1
GIPC3 0 1 0 0 0 0 1
GJB2, GJB6 0 0 1 0 0 0 1
GJB4 0 0 1 0 0 0 1
GOSR2, LRRC37A2 0 1 0 0 0 0 1
GRHL2, LOC126860461 1 0 0 0 0 0 1
GRXCR2 1 0 0 0 0 0 1
KARS1 1 0 0 0 0 0 1
KCNJ10 0 0 1 0 0 0 1
KCNQ4, LOC129930282 1 0 0 0 0 0 1
LHFPL5, LOC129996260 0 0 0 1 0 0 1
LOC105371566, MYO15A 0 0 1 0 0 0 1
LOC121852992, MYH14 0 0 1 0 0 0 1
LOC124292588, LOC130001864, LOC130001865, LOC130001866, LOC130001867, TJP2 1 0 0 0 0 0 1
LOC126860741, TNC 0 0 0 0 1 0 1
LOC129996737, MYO6 0 0 1 0 0 0 1
MITF 0 1 0 0 0 0 1
MNAT1, SIX1, SIX4, SIX6, TRMT5 0 0 1 0 0 0 1
MPZL2 1 0 0 0 0 0 1
MSRB3 0 1 0 0 0 0 1
PCDH15, USH1G 1 0 0 0 0 0 1
SCD5 1 0 0 0 0 0 1
SIX1, SIX4, SIX6 0 0 1 0 0 0 1
SLC26A5 0 0 1 0 0 0 1
TOGARAM2 0 1 0 0 0 0 1
TPRN 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 132
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 106 35 1282 1177 119 0 2719
Illumina Laboratory Services, Illumina 1 1 1170 372 406 0 1950
Fulgent Genetics, Fulgent Genetics 152 182 967 247 39 0 1586
Genome-Nilou Lab 2 2 37 15 316 0 372
OMIM 173 0 8 0 0 0 181
University of Washington Center for Mendelian Genomics, University of Washington 0 156 1 0 0 0 157
Laboratory of Prof. Karen Avraham, Tel Aviv University 42 29 39 0 0 0 110
Baylor Genetics 7 5 57 0 0 0 69
Juno Genomics, Hangzhou Juno Genomics, Inc 16 14 38 0 0 0 68
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 4 42 1 0 0 50
Institute of Rare Diseases, West China Hospital, Sichuan University 8 42 0 0 0 0 50
3billion, Medical Genetics 9 12 15 1 0 0 37
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 2 22 0 1 0 33
Laboratory of Human Genetics, Universidade de São Paulo 16 11 1 0 0 0 28
Neuberg Centre For Genomic Medicine, NCGM 0 1 27 0 0 0 28
GeneReviews 3 0 0 0 0 23 26
Counsyl 8 17 0 0 0 0 25
Revvity Omics, Revvity 1 1 22 0 0 0 24
Institute of Human Genetics, University of Goettingen 1 4 16 1 0 0 22
Institute of Human Genetics, University of Leipzig Medical Center 0 5 12 2 1 0 20
ClinVar Staff, National Center for Biotechnology Information (NCBI) 18 0 0 0 0 1 19
Center for Statistical Genetics, Columbia University 8 7 3 0 0 0 18
Division of Human Genetics, Children's Hospital of Philadelphia 3 2 12 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 5 1 11 0 0 0 17
GenomeConnect, ClinGen 0 0 0 0 0 16 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 3 9 0 0 0 15
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 8 2 0 1 15
Center of Genomic medicine, Geneva, University Hospital of Geneva 7 4 3 0 0 0 14
King Laboratory, University of Washington 5 8 0 0 0 0 13
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 2 0 10 0 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 9 0 0 0 12
Mendelics 1 3 2 2 3 0 11
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 10 0 0 0 11
New York Genome Center 0 1 9 0 0 0 10
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital 2 5 3 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 0 4 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 4 0 0 0 8
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 3 4 0 0 0 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 7 0 0 0 7
Genomics England Pilot Project, Genomics England 2 5 0 0 0 0 7
GenomeConnect - Brain Gene Registry 0 0 0 0 0 7 7
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 6 0 0 6
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 2 3 1 0 0 6
Genetics and Molecular Pathology, SA Pathology 3 1 2 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 4 0 0 0 6
Pars Genome Lab 0 0 0 1 5 0 6
MVZ Medizinische Genetik Mainz 0 3 3 0 0 0 6
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 4 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 5 0 0 0 5
Miami Human Genetics, University Of Miami Miller School Of Medicine 0 2 3 0 0 0 5
Institute of Human Genetics, University of Wuerzburg 0 1 4 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 3 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 5 0 0 0 0 5
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 3 0 2 0 0 0 5
MGZ Medical Genetics Center 0 1 3 0 0 0 4
Hereditary Research Laboratory, Bethlehem University 4 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 2 0 0 0 4
Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine 4 0 0 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 3 0 0 4
Molecular Diagnosis Center for Deafness 1 2 1 0 0 0 4
Mustafa Tekin Lab, University Of Miami, Miller School Of Medicine 0 4 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 3 0 0 0 3
Santos-Cortez Lab, University of Colorado School of Medicine 0 3 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 3 0 0 0 3
Molecular Genetics Lab, CHRU Brest 1 2 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 2 0 0 0 3
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 2 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 3 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 0 1 2 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 1 2 0 0 0 3
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 3 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 2 0 0 0 2
Human Genetics Research Lab, Central University of Jammu 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 0 2
Hereditary Hearing Loss Research Unit, University of Madras 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 1 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
Precision Medicine Center, Zhengzhou University 1 1 0 0 0 0 2
Genetics Department, Hospital Ramon y Cajal-IRYCIS 2 0 0 0 0 0 2
DASA 1 1 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 2
UAEU Genomics Laboratory, United Arab Emirates University 0 0 2 0 0 0 2
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 1 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
University of Arizona Genetics Core, University of Arizona 1 0 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Genetics, Medical University of Vienna 0 1 0 0 0 0 1
Division of Medical Genetics; Sainte-Justine Hospital 1 0 0 0 0 0 1
Hearing and Balance Clinic, First Affliiated Hospital of Kunming Medical University 1 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Dr. Liu's Molecular Genetics Laboratory, University of Miami Miller School of Medicine 0 1 0 0 0 0 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 1
Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems 0 1 0 0 0 0 1
Medical Genetic Team, CHRU Montpellier 0 1 0 0 0 0 1
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 1 0 0 0 0 1
Laboratory of Molecular Genetics, Montpellier University Hospital 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 0 1 0 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 1 0 0 0 0 0 1
ColIege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital 1 0 0 0 0 0 1
Hebei Molecular Diagnosis Lab for Deafness, the Second Hospital of Hebei Medical University 0 0 1 0 0 0 1
Young Lab, Memorial University 1 0 0 0 0 0 1
Epigenetics and Oncology Laboratory, Southwest Medical University 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
Department of Neurology, First People's Hospital of Wuhu 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1
Otorhinolaryngology Head and Neck Surgery, First Medical Center of Chinese PLA General Hospital 0 1 0 0 0 0 1

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