ClinVar Miner

Variants from Genomics England Pilot Project, Genomics England with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Genomics England Pilot Project, Genomics England: Collection method of the submission from Genomics England Pilot Project, Genomics England:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
254 83 3 196 1 2 43 227

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Genomics England Pilot Project, Genomics England pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 45 10 0 0 2
likely pathogenic 151 3 31 4 2 0
uncertain significance 0 0 0 1 0 0

Submitter to submitter summary #

Total submitters: 157
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
OMIM 0 48 0 67 0 2 0 69
Labcorp Genetics (formerly Invitae), Labcorp 0 32 0 40 0 0 10 50
Baylor Genetics 0 35 0 38 0 0 4 42
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 23 0 33 0 0 1 34
Fulgent Genetics, Fulgent Genetics 0 27 0 22 0 0 2 24
Illumina Laboratory Services, Illumina 0 11 0 15 0 0 9 24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 20 0 23 0 0 0 23
3billion 0 23 0 21 0 0 0 21
Revvity Omics, Revvity 0 19 0 19 0 0 1 20
Mendelics 0 13 0 14 0 0 5 19
Institute of Human Genetics, University of Leipzig Medical Center 0 25 0 16 0 0 3 19
Genome-Nilou Lab 0 13 0 14 1 0 1 16
Natera, Inc. 0 16 0 14 1 0 0 15
MGZ Medical Genetics Center 0 17 0 12 0 0 2 14
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 9 0 14 0 0 0 14
Counsyl 0 16 0 12 0 0 1 13
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 8 0 7 0 0 4 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 0 7 0 0 4 11
Genetics and Molecular Pathology, SA Pathology 0 13 0 11 0 0 0 11
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 0 10 0 0 0 10
Myriad Genetics, Inc. 0 7 0 9 0 0 1 10
Neuberg Centre For Genomic Medicine, NCGM 0 8 0 7 0 0 3 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 6 0 8 0 0 0 8
Paris Brain Institute, Inserm - ICM 0 2 0 8 0 0 0 8
Genetic Services Laboratory, University of Chicago 0 6 0 7 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 5 0 7 0 0 0 7
SIB Swiss Institute of Bioinformatics 0 5 0 6 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 0 3 0 6 0 0 0 6
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 6 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 8 0 5 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 9 0 5 0 0 0 5
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 0 5 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 5 0 5 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 3 0 5 0 0 0 5
DASA 0 3 0 5 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 7 0 5 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 4 0 0 0 4
Centogene AG - the Rare Disease Company 0 5 0 4 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 10 0 2 0 0 2 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 0 4 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 5 0 4 0 0 0 4
GeneDx 0 0 0 3 0 0 0 3
PreventionGenetics, part of Exact Sciences 0 0 0 3 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 3 0 0 0 3
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 2 0 3 0 0 0 3
Eurofins Ntd Llc (ga) 0 0 0 3 0 0 0 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 3 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 2 0 0 1 3
Duke University Health System Sequencing Clinic, Duke University Health System 0 2 0 3 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 4 0 3 0 0 0 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 5 0 3 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 8 0 3 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 3 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 4 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 5 0 3 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 3 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 0 3 0 0 0 3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 3 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 3 0 0 0 3
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 3 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 0 2 0 3 0 0 0 3
Solve-RD Consortium 0 6 0 3 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 0 1 0 3 0 0 0 3
Athena Diagnostics 0 0 0 2 0 0 0 2
Claritas Genomics 0 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 2 0 2 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 2 0 0 0 2
Blueprint Genetics 0 1 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 7 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 2 0 2 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 7 0 2 0 0 0 2
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 3 0 1 0 0 1 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 5 0 2 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 0 2 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 0 1 0 2 0 0 0 2
Section for Clinical Neurogenetics, University of Tübingen 0 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 2 0 2 0 0 0 2
New York Genome Center 0 3 0 2 0 0 0 2
Lifecell International Pvt. Ltd 0 1 0 2 0 0 0 2
GenomeConnect - Simons Searchlight 0 1 0 2 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 0 0 0 2 0 0 0 2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 2 0 0 0 2
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 0 0 0 2 0 0 0 2
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 0 0 0 2 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 2 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 3 0 0 0 0 1 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 1 0 0 0 1
King Laboratory, University of Washington 0 0 0 1 0 0 0 1
Clinical Biochemistry Laboratory, Health Services Laboratory 0 2 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1 1
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 1 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 0 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 1 0 0 0 1
GeneReviews 0 32 0 1 0 0 0 1
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 2 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 2 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent, University of Ghent 0 0 0 0 0 0 1 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 1 0 1 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 0 0 0 1 0 0 0 1
Neurogenetics of motion laboratory, Montreal Neurological Institute 0 1 0 1 0 0 0 1
Miami Human Genetics, University Of Miami Miller School Of Medicine 0 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 5 0 0 0 0 1 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 1 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 1 0 0 0 1
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris 0 0 0 1 0 0 0 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 0 0 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 2 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 1 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 0 0 1 0 0 0 1
Breda Genetics srl 0 0 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 0 1 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 0 0 0 1 0 0 0 1
Reproductive Endocrine Unit, Massachusetts General Hospital 0 3 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 2 0 1 0 0 0 1
The William Harvey Research Institute, Queen Mary University 0 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 1 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 2 0 1 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 1 0 1 0 0 0 1
NEUROCHILD, Pediatric Research Center 0 0 0 1 0 0 0 1
CMT Laboratory, Bogazici University 0 0 0 1 0 0 0 1
Suma Genomics 0 1 0 1 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 1 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 1 0 0 0 1
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 0 0 0 0 0 0 1 1
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 0 3 0 1 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 1 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 2 0 1 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 0 1 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 0 0 1 0 0 0 1
All of Us Research Program, National Institutes of Health 0 3 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 227
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_080860.4(RSPH1):c.275-2A>C rs151107532 0.00048
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 0.00045
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu) rs139076647 0.00022
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_017541.4(CRYGS):c.77A>G (p.Asp26Gly) rs143507827 0.00018
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter) rs147145234 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_005186.4(CAPN1):c.1605+5G>A rs375817528 0.00012
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser) rs149992595 0.00010
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747 0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_144773.4(PROKR2):c.491G>A (p.Arg164Gln) rs751875578 0.00009
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) rs764256655 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) rs148393161 0.00004
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_003114.5(SPAG1):c.1519dup (p.Ile507fs) rs763569711 0.00004
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698 0.00004
NM_003119.4(SPG7):c.861+2dup rs771256761 0.00004
NM_007262.5(PARK7):c.471_473del (p.Pro158del) rs764877312 0.00004
NM_012193.4(FZD4):c.313A>G (p.Met105Val) rs80358284 0.00004
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met) rs201994921 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg) rs748899308 0.00002
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928 0.00002
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) rs62636511 0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_000187.4(HGD):c.157C>T (p.Arg53Trp) rs759435977 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104 0.00001
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly) rs369098773 0.00001
NM_000322.5(PRPH2):c.828+3A>T rs281865373 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) rs371707778 0.00001
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys) rs1290534109 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser) rs753864625 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004318.4(ASPH):c.2127-2del rs1200332180 0.00001
NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter) rs1215612827 0.00001
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232 0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_018082.6(POLR3B):c.985C>T (p.Arg329Ter) rs758437925 0.00001
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys) rs387907040 0.00001
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NC_012920.1(MT-ATP6):m.8851T>C rs199476136
NC_012920.1(MT-ATP6):m.8993T>G rs199476133
NC_012920.1(MT-ATP6):m.9176T>C rs199476135
NC_012920.1(MT-ATP6):m.9185T>C rs199476138
NC_012920.1(MT-ND1):m.3946G>A rs199476123
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000052.7(ATP7A):c.2917-4A>G rs2149104823
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser) rs1201586094
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro) rs2063192428
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) rs863224153
NM_000304.4(PMP22):c.341C>T (p.Ala114Val) rs1217342392
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys) rs397515624
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) rs1555730189
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_001005242.3(PKP2):c.951del (p.His318fs) rs1555148048
NM_001005361.3(DNM2):c.1739T>C (p.Met580Thr) rs1269225724
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001042492.3(NF1):c.1527+2dup rs1597698533
NM_001083619.3(GRIA2):c.1825G>A (p.Gly609Arg) rs1735303754
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg) rs1057518011
NM_001126108.2(SLC12A3):c.505+5G>A rs751112698
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001184880.2(PCDH19):c.498del (p.Thr165_Tyr166insTer) rs2147541733
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs) rs778390089
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) rs387906652
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) rs121964855
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) rs111033578
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) rs1489114116
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter) rs1555369657
NM_001367823.1(ARHGEF18):c.2181+5G>A rs1064793002
NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs) rs1436141222
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu) rs869312668
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.4808G>C (p.Arg1603Thr) rs1555409418
NM_001382567.1(STIM1):c.326A>G (p.His109Arg) rs397514677
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs) rs745744124
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001927.4(DES):c.735+1G>A rs397516698
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002067.5(GNA11):c.542G>A (p.Arg181Gln) rs587777020
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004318.4(ASPH):c.1695C>A (p.Tyr565Ter) rs781508063
NM_004373.4(COX6A1):c.247-7_247-3del rs587777783
NM_004431.5(EPHA2):c.2826-9G>A rs886041412
NM_004646.4(NPHS1):c.2126T>G (p.Val709Gly) rs386833902
NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys) rs367916692
NM_005276.4(GPD1):c.361G>A (p.Gly121Arg) rs35428353
NM_005276.4(GPD1):c.686G>C (p.Arg229Pro) rs199673455
NM_005869.4(CWC27):c.1002dup (p.Val335fs) rs752159903
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_007289.4(MME):c.1400dup (p.Arg468fs) rs751149568
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_014795.4(ZEB2):c.1884del (p.Phe628fs) rs786204811
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.4(SPAST):c.1245+6T>G rs1553317050
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter) rs774809466
NM_016525.5(UBAP1):c.535G>T (p.Glu179Ter) rs1833955862
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter) rs1554041295
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021954.4(GJA3):c.176C>T (p.Pro59Leu) rs864309691
NM_021954.4(GJA3):c.184G>A (p.Glu62Lys) rs2141138365
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg) rs143697995
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.3(FGFR1):c.2122G>T (p.Glu708Ter) rs2150533516
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs) rs398122983
NM_025137.4(SPG11):c.5148dup (p.His1717fs) rs1422477670
NM_025137.4(SPG11):c.6754+2_6754+3dup rs759090170
NM_033109.5(PNPT1):c.407G>A (p.Arg136His) rs746356243
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp) rs104886093
NM_080860.4(RSPH1):c.281G>A (p.Trp94Ter) rs587777635
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_152419.3(HGSNAT):c.1708del (p.Thr570fs) rs1804782152
NM_152564.5(VPS13B):c.6046+1G>C rs750003804
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu) rs587777782
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_212552.3(BOLA3):c.220_222del (p.Glu74del) rs1209052568

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