ClinVar Miner

Variants from CENTOGENE GmbH and LLC - Guiding Precision Medicine with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from CENTOGENE GmbH and LLC - Guiding Precision Medicine: Collection method of the submission from CENTOGENE GmbH and LLC - Guiding Precision Medicine:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
675 249 3 218 27 3 69 288

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
CENTOGENE GmbH and LLC - Guiding Precision Medicine pathogenic likely pathogenic uncertain significance likely benign benign affects other
pathogenic 3 139 24 3 3 1 2
likely pathogenic 78 0 18 0 0 0 0
uncertain significance 16 18 0 19 11 0 0
benign 1 0 1 1 0 0 0

Submitter to submitter summary #

Total submitters: 158
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
Labcorp Genetics (formerly Invitae), Labcorp 0 159 3 24 18 0 15 60
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 48 0 33 0 0 2 35
OMIM 0 138 0 13 0 3 10 26
Counsyl 0 25 0 19 0 0 6 25
Baylor Genetics 0 103 0 20 0 0 4 24
Revvity Omics, Revvity 0 66 0 21 0 0 3 24
Genome-Nilou Lab 0 37 0 17 2 0 3 22
Natera, Inc. 0 76 0 15 2 0 5 22
3billion 0 105 0 16 0 0 4 20
Fulgent Genetics, Fulgent Genetics 0 86 0 15 0 0 1 16
Institute of Human Genetics, University of Leipzig Medical Center 0 52 0 11 0 0 4 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 95 0 11 0 0 3 14
Mendelics 0 35 0 4 0 0 7 11
Myriad Genetics, Inc. 0 41 0 10 1 0 0 11
Illumina Laboratory Services, Illumina 0 55 0 4 3 0 3 10
Neuberg Centre For Genomic Medicine, NCGM 0 54 0 8 0 0 2 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 17 0 5 0 0 3 8
MGZ Medical Genetics Center 0 21 0 7 0 0 1 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 67 0 6 0 0 1 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 12 0 5 0 0 1 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 10 0 5 0 0 1 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 30 0 4 0 0 2 6
Solve-RD Consortium 0 0 0 6 0 0 0 6
Department of Human Genetics, Hannover Medical School 0 10 0 3 0 0 2 5
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 26 0 1 0 0 4 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 15 0 5 0 0 0 5
Lifecell International Pvt. Ltd 0 10 0 5 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 2 0 4 0 0 1 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 32 0 4 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 35 0 3 0 0 1 4
Dubai Health Genomic Medicine Center, Dubai Health 0 18 0 4 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 24 0 4 0 0 0 4
Genomics England Pilot Project, Genomics England 0 5 0 4 0 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 0 37 0 4 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 31 0 3 0 0 1 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 22 0 4 0 0 0 4
UCLA Clinical Genomics Center, UCLA 0 1 0 4 0 0 0 4
Variantyx, Inc. 0 29 0 3 0 0 1 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 19 0 1 2 0 0 3
Ambry Genetics 0 3 0 1 0 0 2 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 11 0 3 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 7 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 17 0 3 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 8 0 3 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 9 0 3 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 13 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 22 0 2 0 0 1 3
Molecular Genetics, Royal Melbourne Hospital 0 9 0 2 0 0 1 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 2 0 0 1 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 3 0 2 0 0 1 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 9 0 2 0 0 1 3
Yale Center for Mendelian Genomics, Yale University 0 2 0 3 0 0 0 3
Centre of Medical Genetics, University Hospital Muenster 0 1 0 2 0 0 0 2
ClinGen PAH Variant Curation Expert Panel 0 4 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 10 0 2 0 0 0 2
Dasa 0 19 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 1 0 0 1 2
Department of Molecular Genetics, Istishari Arab Hospital 0 5 0 2 0 0 0 2
Dunham Lab, University of Washington 0 2 0 1 0 0 1 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 25 0 1 0 0 1 2
Hadassah Hebrew University Medical Center 0 4 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 10 0 1 0 0 1 2
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 2 0 1 0 0 1 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 4 0 1 0 0 1 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 3 0 1 0 0 1 2
LDLR-LOVD, British Heart Foundation 0 0 0 1 0 0 1 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 2 0 0 0 0 2 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 2 0 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 2 0 2 0 0 0 2
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 0 0 0 2 0 0 0 2
Arcensus 0 2 0 1 0 0 0 1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 0 0 0 1 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 1 0 0 0 1
Biotechnology, Institute of Science, Nirma University 0 0 0 0 0 0 1 1
Blueprint Genetics 0 5 0 1 0 0 0 1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 0 0 1 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 1 0 0 0 0 1 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 2 0 1 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 7 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 0 1 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 0 0 1 0 0 0 1
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 0 0 0 0 0 1 1
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 2 0 0 0 0 1 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 4 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 7 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 7 0 0 0 0 1 1
Daryl Scott Lab, Baylor College of Medicine 0 10 0 1 0 0 0 1
Department of Genetics, Robert DEBRE University Hospital 0 0 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 9 0 0 0 0 1 1
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 0 1 0 0 0 1
Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University 0 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 12 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 3 0 1 0 0 0 1
Eurofins-Biomnis 0 2 0 1 0 0 0 1
GeneDx 0 7 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 7 0 0 0 0 1 1
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine 0 0 0 1 0 0 0 1
Genetic Foundation of Khorasan Razavi (GFKR) 0 0 0 1 0 0 0 1
Genetics Department, Catlab 0 1 0 1 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 2 0 0 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 17 0 1 0 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 3 0 0 0 0 1 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 0 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 3 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 5 0 1 0 0 0 1
Giacomini Lab, University of California, San Francisco 0 2 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 2 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
Institute for Human Genetics, University Hospital Essen 0 0 0 1 0 0 0 1
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 0 0 0 1 1
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 0 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 4 0 0 0 0 1 1
Institute of Immunology and Genetics Kaiserslautern 0 11 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 1 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1 1
Kids Research, The Children's Hospital at Westmead 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 23 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 1 0 0 0 0 1 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 0 0 0 1 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 1 0 0 0 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 0 0 1 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 0 0 0 0 0 1 1
MVZ Martinsried, Medicover Genetics 0 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 6 0 1 0 0 0 1
Medical Genetics, University of Parma 0 0 0 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 2 0 0 0 0 1 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 9 0 1 0 0 0 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai 0 0 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 1 0 0 0 1
Neurogenetics Laboratory, Gh Pitie Salpetriere Aphp 0 0 0 1 0 0 0 1
Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center 0 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 9 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 0 1 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 4 0 1 0 0 0 1
Rademakers Lab, Mayo Clinic 0 0 0 0 0 0 1 1
Robarts Research Institute, Western University 0 0 0 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 0 0 1 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 0 1 0 0 0 1
Sharing Clinical Reports Project (SCRP) 0 1 0 0 1 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
Suma Genomics 0 8 0 0 0 0 1 1
Undiagnosed Diseases Network, NIH 0 6 0 1 0 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 0 0 0 1 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 288
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.55614
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02788
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00380
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00337
NM_033419.5(PGAP3):c.*559C>T rs183208638 0.00300
NC_000021.9:g.26171246G>A rs139885956 0.00230
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00219
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00186
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys) rs141868117 0.00150
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00147
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00133
NM_001371986.1(UNC80):c.1818G>A (p.Pro606=) rs61742726 0.00128
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00093
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr) rs202195978 0.00088
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) rs120074114 0.00071
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00069
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_000341.4(SLC3A1):c.1381T>C (p.Tyr461His) rs144162964 0.00044
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440 0.00035
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala) rs143041875 0.00032
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00030
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00030
NM_206926.2(SELENON):c.841G>A (p.Gly281Ser) rs121908188 0.00030
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00020
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln) rs72546338 0.00020
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00017
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00016
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00015
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00009
NM_000374.5(UROD):c.995G>A (p.Arg332His) rs121918066 0.00007
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val) rs374315921 0.00007
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser) rs560867570 0.00006
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu) rs72549304 0.00005
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314 0.00005
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn) rs368641951 0.00004
NM_004268.5(MED17):c.1597C>T (p.Gln533Ter) rs752341132 0.00004
NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro) rs765305996 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) rs769967565 0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) rs373885282 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_001041.4(SI):c.2401G>T (p.Glu801Ter) rs200972419 0.00003
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) rs201951824 0.00003
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu) rs149225252 0.00003
NM_003265.3(TLR3):c.2599C>T (p.Arg867Ter) rs745646456 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000271.5(NPC1):c.2777C>T (p.Ala926Val) rs730880963 0.00002
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00002
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335 0.00002
NM_003482.4(KMT2D):c.8032G>C (p.Glu2678Gln) rs754609531 0.00002
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp) rs766285158 0.00002
NM_004562.3(PRKN):c.167T>A (p.Val56Glu) rs137853059 0.00002
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys) rs371085894 0.00002
NM_016373.4(WWOX):c.953C>T (p.Ser318Leu) rs770023814 0.00002
NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys) rs367909007 0.00002
NM_176787.5(PIGN):c.963G>A (p.Gln321=) rs587777187 0.00002
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195 0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys) rs779440632 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220 0.00001
NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn) rs80358863 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000237.3(LPL):c.784C>T (p.Gln262Ter) rs1297688787 0.00001
NM_000271.5(NPC1):c.574T>C (p.Tyr192His) rs556117842 0.00001
NM_000318.3(PEX2):c.-17-2A>G rs1289852067 0.00001
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe) rs766317920 0.00001
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00001
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_000512.5(GALNS):c.498C>G (p.His166Gln) rs1301198698 0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777 0.00001
NM_000548.5(TSC2):c.1187A>T (p.Asp396Val) rs1365616275 0.00001
NM_000548.5(TSC2):c.2701C>T (p.Arg901Cys) rs796053512 0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_001042492.3(NF1):c.3103A>G (p.Met1035Val) rs771694969 0.00001
NM_001083116.3(PRF1):c.921del (p.His308fs) rs777345151 0.00001
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) rs41270025 0.00001
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter) rs769501930 0.00001
NM_001277115.2(DNAH11):c.6565C>T (p.Arg2189Ter) rs778698443 0.00001
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs) rs776790336 0.00001
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter) rs749593004 0.00001
NM_002225.5(IVD):c.890C>T (p.Ala297Val) rs796051983 0.00001
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) rs746136135 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro) rs867525294 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_014252.4(SLC25A15):c.44C>T (p.Ala15Val) rs202247806 0.00001
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter) rs387907106 0.00001
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter) rs376075583 0.00001
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp) rs864622269 0.00001
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578 0.00001
NM_016035.5(COQ4):c.458C>T (p.Ala153Val) rs757173567 0.00001
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp) rs564185858 0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009 0.00001
NM_058172.6(ANTXR2):c.652T>C (p.Cys218Arg) rs781637328 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_144687.4(NLRP12):c.2360dup (p.Met787fs) rs768447330 0.00001
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser) rs398123088
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.3503dup (p.Cys1168fs) rs2082209411
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) rs376910645
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter) rs867425110
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000088.4(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys) rs2132747882
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) rs1601054715
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000169.3(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His) rs63750753
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000249.4(MLH1):c.1528_1532delinsACTAGTTTG (p.Gln510fs) rs2083718945
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073
NM_000264.5(PTCH1):c.3921del (p.Arg1308fs) rs761353734
NM_000271.5(NPC1):c.2086del (p.Ala696fs) rs2511234836
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter) rs1454412918
NM_000271.5(NPC1):c.2515-2A>G rs2511218496
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter) rs774602107
NM_000271.5(NPC1):c.3412_3413del (p.Met1138fs) rs2511189739
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter) rs772912966
NM_000310.4(PPT1):c.398del (p.Met133fs) rs386833644
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000321.3(RB1):c.373G>T (p.Glu125Ter) rs1952457111
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.423-862C>T rs1597575641
NM_000528.4(MAN2B1):c.2356-2A>G rs1064793936
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr) rs752029455
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln) rs397514668
NM_000558.5(HBA1):c.95+2_95+6del rs1181505507
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001009944.3(PKD1):c.7065+1G>A rs2151783532
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001042492.3(NF1):c.2998_2999del (p.Arg1000fs) rs1597716817
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp) rs1435160117
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs) rs587776895
NM_001163435.3(TBCK):c.1170+1G>A rs765407874
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del) rs1432360280
NM_001171613.2(PREPL):c.1366C>T (p.Gln456Ter) rs1673549822
NM_001174147.2(LMX1B):c.784G>A (p.Val262Met) rs1588307464
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter) rs863224886
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs) rs1064796367
NM_001372044.2(SHANK3):c.3904del rs762292772
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs) rs1779004027
NM_001374828.1(ARID1B):c.5264-2A>G rs1794274425
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.7220C>T (p.Ser2407Leu) rs1424813619
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys) rs786205153
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys) rs138008832
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) rs1223645705
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003504.5(CDC45):c.333C>T (p.Asn111=) rs748749078
NM_003742.4(ABCB11):c.908+1G>C rs147649016
NM_004006.3(DMD):c.1283del (p.Asn428fs) rs2059643357
NM_004463.3(FGD1):c.527del (p.Pro176fs) rs756586058
NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer) rs1830379007
NM_004817.4(TJP2):c.239+1G>A rs749237210
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005807.6(PRG4):c.2247del (p.Ala750fs) rs1656851989
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs) rs769917456
NM_005807.6(PRG4):c.3462_3465del (p.Thr1155fs) rs768053349
NM_005993.5(TBCD):c.1661C>T (p.Ala554Val) rs1555641324
NM_006767.4(LZTR1):c.1373dup (p.His459fs) rs1924703709
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006984.5(CLDN10):c.653del (p.Pro218fs) rs2043960821
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter) rs2151730563
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln) rs1057519947
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu) rs141028076
NM_014362.4(HIBCH):c.386-1G>C rs1203170244
NM_014714.4(IFT140):c.1525-1G>A rs2034013225
NM_014795.4(ZEB2):c.876dup (p.Tyr293fs) rs2149877962
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys) rs2137290227
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter) rs749597091
NM_019066.5(MAGEL2):c.1808C>G (p.Ser603Ter) rs1595332731
NM_019096.5(GTPBP2):c.1236+1G>A rs1252019134
NM_019096.5(GTPBP2):c.1527_1528del (p.Glu509fs) rs1768790302
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020320.5(RARS2):c.1A>T (p.Met1Leu) rs774923951
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020680.4(SCYL1):c.1386+1G>T rs201581270
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn) rs1057521927
NM_022370.4(ROBO3):c.767-1G>A rs1946261580
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_024757.5(EHMT1):c.21+1_21+5del rs1842769868
NM_025137.4(SPG11):c.6437_6438del (p.Thr2146fs) rs2082401685
NM_031307.4(PUS3):c.1181_1182del (p.Ser394fs) rs753229591
NM_031443.4(CCM2):c.472+1G>C rs745710633
NM_033380.3(COL4A5):c.2777G>T (p.Gly926Val) rs2147865541
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu) rs201623252
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs) rs1811766430
NM_152641.4(ARID2):c.5093C>G (p.Ala1698Gly) rs1944308198
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter) rs1565019928
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
UGT1A1*28 rs3064744

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