ClinVar Miner

Variants from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine: Collection method of the submission from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine:
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 Variants with at least 2 submissions 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 kind of conflict
2657 181 12 161 127 9 118 361

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
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor
pathogenic 11 30 20 0 0 0 0 0 0
likely pathogenic 32 0 16 0 0 0 0 0 0
uncertain significance 14 12 0 23 4 0 0 0 1
likely benign 1 3 63 0 37 0 0 0 0
benign 40 15 41 62 1 1 1 2 6

Submitter to submitter summary #

Total submitters: 123
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
GeneDx 0 128 0 54 24 0 11 87
OMIM 0 63 0 23 2 7 41 73
Invitae 0 94 0 26 27 0 17 68
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 43 0 8 37 0 15 59
GeneReviews 0 28 12 7 4 0 19 42
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 22 0 26 10 0 2 38
Athena Diagnostics Inc 0 39 0 13 13 0 5 30
Illumina Clinical Services Laboratory,Illumina 0 8 0 7 17 0 3 27
CeGaT Praxis fuer Humangenetik Tuebingen 0 8 0 9 8 0 4 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 19 0 3 15 0 2 20
Ambry Genetics 0 34 0 10 6 0 4 20
Genetic Services Laboratory, University of Chicago 0 8 0 11 6 0 2 19
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 21 0 8 3 0 8 19
Department of Zoology Govt. MVM College 0 0 0 0 0 0 16 16
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 1 10 0 0 11
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 7 0 7 3 0 0 10
Fulgent Genetics,Fulgent Genetics 0 15 0 3 5 0 2 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 1 7 0 2 10
PreventionGenetics,PreventionGenetics 0 23 0 9 0 0 0 9
Institute of Human Genetics,Klinikum rechts der Isar 0 6 0 4 0 0 3 7
Baylor Genetics 0 9 0 2 0 0 3 5
Mendelics 0 6 0 3 1 0 1 5
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 1 0 0 2 0 3 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 2 0 0 2 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 0 0 1 0 3 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 1 0 2 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 4 0 2 0 0 1 3
Wellcome Centre for Mitochondrial Research,Newcastle University 0 11 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 1 0 1 1 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 1 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 1 0 0 1 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 1 0 1 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 1 0 1 2
Undiagnosed Diseases Network,NIH 0 2 0 0 2 0 1 2
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 2 1 0 1 2
Inherited Neuropathy Consortium 0 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 2 0 0 0 2
Collagen Diagnostic Laboratory,University of Washington 0 0 0 0 0 0 1 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 1 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 0 0 0 1 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 0 0 0 1 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 2 0 0 0 0 1 1
Counsyl 0 0 0 0 1 0 1 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 0 0 0 1 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 0 0 0 1 1
Academic Department of Medical Genetics, University of Cambridge 0 0 0 0 1 0 1 1
PXE International 0 0 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 0 1 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 0 0 0 1 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 0 0 0 1 1
Department of Medical Genetics,Oslo University Hospital 0 1 0 0 0 0 1 1
Shaikh Laboratory, University of Colorado 0 0 0 0 0 0 1 1
University of British Columbia 0 0 0 0 0 0 1 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 0 0 0 1 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 0 0 1 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 0 0 0 0 0 0 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Science and Research Branch, Islamic Azad University,Islamic Azad University 0 0 0 0 0 0 1 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 1 0 0 1
Department of Neurology, University Hospital of Strasbourg 0 0 0 0 0 0 1 1
Centre of Medical Genetics, University of Antwerp 0 0 0 0 0 0 1 1
Institute for Ophthalmic Research,University Tuebingen 0 0 0 0 0 0 1 1
Dobyns Lab,Seattle Children's Research Institute 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 0 0 0 1 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 0 0 0 1 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 0 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 0 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 0 0 0 1 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 0 1 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 0 0 0 1 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 0 0 0 1 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 0 0 0 0 0 0 1 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 1 0 0 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 0 1 0 1 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 0 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 0 0 1
Geschwind lab,University of California Los Angeles 0 0 0 0 1 1 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 0 0 0 1 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 0 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 1 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 0 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 0 0 0 0 1 1
Zuffardi lab,University of Pavia 0 0 0 0 0 0 1 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Robarts Research Institute,Western University 0 0 0 0 0 0 1 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 0 0 0 1 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 0 0 0 1 1
Tim Yu lab,Boston Children's Hospital 0 0 0 0 0 0 1 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 0 0 0 1 1
Medical Genetics Laboratory,Aldo Moro University of Bari 0 0 0 0 0 0 1 1
Herman Laboratory,Nationwide Children's Hospital 0 0 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 6 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 1 1 0 1 1
Department of Medical Sciences,Uppsala University 0 0 0 0 0 0 1 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 0 0 0 0 0 0 1 1
Yang An-Suei Laboratory,Academia Sinica 0 0 0 0 0 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 0 0 0 1 1
Flegel Lab,National Institutes of Health 0 0 0 0 0 0 1 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 0 0 0 1 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 3197 1 0 0 0 0 1 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 0 0 0 1 1
Emory University School of Medicine, Department of Human Genetics,Emory University 0 0 0 0 0 0 1 1
Clinical genetics,CHU Grenoble-Alpes 0 0 0 0 0 0 1 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 0 1 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 0 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 0 1 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 1 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1 1
Raymond Lab,University of Cambridge 0 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 1 0 0 0 1
Molecular Biology Laboratory,University of Basrah 0 0 0 0 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 1 0 0 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 0 0 0 1 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 0 0 0 1 1
Inherited Eye Disorders lab,UCL Institute of Ophthalmology 0 0 0 0 0 0 1 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 0 0 0 1 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 1 0 0 1
Clinical Genetics Research Group,Karolinska Institutet 0 0 0 0 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 361
Download table as spreadsheet
HGVS dbSNP
NC_000006.11:g.5610223_5726369del
NC_012920.1(MT-ATP6):m.8616G>T rs41427749
NC_012920.1(MT-ATP6):m.8704A>G rs878852994
NC_012920.1(MT-ATP6):m.8803A>T rs878853020
NC_012920.1(MT-ATP6):m.8932C>T rs878853013
NC_012920.1(MT-ATP6):m.9035T>C
NC_012920.1(MT-ATP6):m.9091A>G rs1057520079
NC_012920.1(MT-ATP8):m.8519G>A rs878853091
NC_012920.1(MT-CO1):m.6261G>A rs201262114
NC_012920.1(MT-CO2):m.7637G>A rs1556423314
NC_012920.1(MT-CO3):m.9861T>C rs878853060
NC_012920.1(MT-CO3):m.9966G>A rs200809063
NC_012920.1(MT-CYB):m.15071T>C rs199999794
NC_012920.1(MT-CYB):m.15467A>G rs1569484723
NC_012920.1(MT-CYB):m.15777G>A rs879182710
NC_012920.1(MT-CYB):m.15848A>G rs1057520206
NC_012920.1(MT-CYB):m.1619C>T rs1569483811
NC_012920.1(MT-CYB):m.5553T>C rs878853053
NC_012920.1(MT-CYB):m.8348A>G
NC_012920.1(MT-ND1):m.3796A>T rs28357970
NC_012920.1(MT-ND1):m.4132G>A rs1057520201
NC_012920.1(MT-ND1):m.4219G>A rs878853008
NC_012920.1(MT-ND3):m.10084T>C rs41487950
NC_012920.1(MT-ND3):m.10321T>C rs193302928
NC_012920.1(MT-ND4):m.10931T>C rs1569484408
NC_012920.1(MT-ND4L):m.10644G>A rs1569484385
NC_012920.1(MT-ND5):m.12346C>T rs200279497
NC_012920.1(MT-ND5):m.13528A>G rs55882959
NC_012920.1(MT-ND5):m.14000T>A rs28359185
NC_012920.1(MT-ND5):m.14002A>G rs386829198
NC_012920.1(MT-ND6):m.14393A>G rs878853104
NC_012920.1(MT-ND6):m.14502T>C
NC_012920.1(MT-ND6):m.14633A>G rs1569484667
NC_012920.1:m.10046T>C rs876661357
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.11984T>C rs200911567
NC_012920.1:m.12535C>T rs876661356
NC_012920.1:m.13051G>A rs1131692063
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.14597A>G rs797045055
NC_012920.1:m.14598T>C rs1057518882
NC_012920.1:m.14706A>G rs1057516070
NC_012920.1:m.15060G>A rs1057516072
NC_012920.1:m.15098A>G rs527236172
NC_012920.1:m.15246G>A rs1057516075
NC_012920.1:m.15314G>A rs527236176
NC_012920.1:m.15323G>A rs527236177
NC_012920.1:m.15431G>A rs193302993
NC_012920.1:m.15452C>A rs193302994
NC_012920.1:m.15453T>C rs527236184
NC_012920.1:m.15458T>C rs527236185
NC_012920.1:m.15459C>T rs527236186
NC_012920.1:m.15758A>G rs527236193
NC_012920.1:m.15884G>A rs527236195
NC_012920.1:m.15927G>A rs193303002
NC_012920.1:m.15928G>A rs527236198
NC_012920.1:m.15943T>C rs527236200
NC_012920.1:m.3275C>T rs1057516057
NC_012920.1:m.3460G>A rs199476118
NC_012920.1:m.3548T>C rs876661353
NC_012920.1:m.3928G>C rs587776442
NC_012920.1:m.4135T>C rs876661355
NC_012920.1:m.4277T>C rs876661358
NC_012920.1:m.4316A>G rs876661360
NC_012920.1:m.4317delA rs876661361
NC_012920.1:m.4363T>C rs200009705
NC_012920.1:m.5559A>G rs1556423008
NC_012920.1:m.6951G>A
NC_012920.1:m.7444G>A rs199474822
NC_012920.1:m.7472A>T rs1556423293
NC_012920.1:m.7502C>T rs876657868
NC_012920.1:m.7724A>T
NC_012920.1:m.7746A>G
NC_012920.1:m.8084A>G rs1057518824
NC_012920.1:m.8527A>G rs878853003
NC_012920.1:m.8553C>T rs1569484219
NC_012920.1:m.8851T>C rs199476136
NC_012920.1:m.8950G>A rs1556423574
NC_012920.1:m.9032T>C
NC_012920.1:m.9152T>C rs878853096
NC_012920.1:m.9166T>C rs1057516063
NC_012920.1:m.9176T>C rs199476135
NM_001126131.2(POLG):c.126_128GCA[12] (p.Gln55dup) rs41550117
NM_001126131.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_001126131.2(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) rs1554219474
NM_001278716.2(FBXL4):c.1083C>T (p.Ile361=) rs368029297
NM_001278716.2(FBXL4):c.1104-4G>T rs370992555
NM_001278716.2(FBXL4):c.1125C>T (p.Ser375=) rs377550308
NM_001278716.2(FBXL4):c.1251A>G (p.Gln417=) rs151258576
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863
NM_001278716.2(FBXL4):c.1317+14A>G rs182139048
NM_001278716.2(FBXL4):c.1353A>G (p.Ser451=) rs141165629
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061
NM_001278716.2(FBXL4):c.1566C>T (p.Thr522=) rs149704398
NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly) rs398123062
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
NM_001278716.2(FBXL4):c.351G>A (p.Thr117=) rs375173811
NM_001278716.2(FBXL4):c.36C>G (p.Thr12=) rs749635212
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447
NM_001278716.2(FBXL4):c.429A>G (p.Leu143=) rs17058965
NM_001278716.2(FBXL4):c.468T>C (p.Ala156=) rs114916821
NM_001278716.2(FBXL4):c.540T>G (p.Pro180=) rs760238524
NM_001278716.2(FBXL4):c.79A>G (p.Thr27Ala) rs142853738
NM_001278716.2(FBXL4):c.936G>A (p.Gln312=) rs142814111
NM_001278716.2(FBXL4):c.978A>G (p.Gln326=) rs61744041
NM_001278716.2(FBXL4):c.9G>A (p.Pro3=) rs773041308
NM_002693.2(POLG):c.*49G>A rs758880377
NM_002693.2(POLG):c.1066C>T (p.Leu356=) rs371431444
NM_002693.2(POLG):c.1126C>T (p.Leu376=) rs116165908
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.1174C>G (p.Leu392Val) rs145289229
NM_002693.2(POLG):c.1251-43C>T rs2307444
NM_002693.2(POLG):c.1251G>A (p.Arg417=) rs1567191509
NM_002693.2(POLG):c.125_139dup rs780010436
NM_002693.2(POLG):c.1275C>T (p.Ala425=) rs147404477
NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.2(POLG):c.128A>G (p.Gln43Arg) rs28567406
NM_002693.2(POLG):c.1311C>T (p.Val437=) rs62640035
NM_002693.2(POLG):c.131A>G (p.Gln44Arg) rs757120802
NM_002693.2(POLG):c.137A>G (p.Gln46Arg) rs1555454339
NM_002693.2(POLG):c.1386G>A (p.Ser462=) rs62640034
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.150G>A (p.Gln50=) rs766501874
NM_002693.2(POLG):c.153G>A (p.Gln51=) rs1453538834
NM_002693.2(POLG):c.154C>A (p.Gln52Lys) rs376683989
NM_002693.2(POLG):c.1585+11T>C rs201566815
NM_002693.2(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) rs2307447
NM_002693.2(POLG):c.1674C>G (p.Leu558=) rs552085869
NM_002693.2(POLG):c.1712+10G>A rs55962804
NM_002693.2(POLG):c.1713-5C>T rs148494026
NM_002693.2(POLG):c.1721G>A (p.Arg574Gln) rs764287987
NM_002693.2(POLG):c.1743C>T (p.Asp581=) rs140743000
NM_002693.2(POLG):c.1761G>A (p.Pro587=) rs374805003
NM_002693.2(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.2(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.2(POLG):c.1790G>A (p.Arg597Gln) rs1001570418
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.1850G>A (p.Arg617His) rs779961986
NM_002693.2(POLG):c.186A>G (p.Leu62=) rs745310138
NM_002693.2(POLG):c.1874C>T (p.Pro625Leu) rs1064794214
NM_002693.2(POLG):c.1880G>A (p.Arg627Gln) rs375305567
NM_002693.2(POLG):c.1887C>T (p.Asp629=) rs886051524
NM_002693.2(POLG):c.1890C>T (p.Asn630=) rs148658588
NM_002693.2(POLG):c.1898A>C (p.Lys633Thr) rs568913937
NM_002693.2(POLG):c.1904C>T (p.Pro635Leu) rs773994204
NM_002693.2(POLG):c.1905G>T (p.Pro635=) rs550592814
NM_002693.2(POLG):c.1943C>G (p.Pro648Arg) rs796052906
NM_002693.2(POLG):c.1949+20G>C rs371964664
NM_002693.2(POLG):c.1950-9T>C rs780378329
NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) rs2307450
NM_002693.2(POLG):c.2019C>T (p.Ala673=) rs557179508
NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) rs200257554
NM_002693.2(POLG):c.2027C>T (p.Ala676Val) rs376306906
NM_002693.2(POLG):c.2028G>A (p.Ala676=) rs373550219
NM_002693.2(POLG):c.2071-14T>G rs150088708
NM_002693.2(POLG):c.2109C>A (p.Ala703=) rs2307429
NM_002693.2(POLG):c.2121C>A (p.Asn707Lys) rs755502359
NM_002693.2(POLG):c.2149C>T (p.Leu717=) rs779515404
NM_002693.2(POLG):c.2157+11C>T rs56411159
NM_002693.2(POLG):c.2157+15G>A rs766521182
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) rs138457939
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.2220C>T (p.Asn740=) rs141538857
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.2254C>T (p.Leu752=) rs41564016
NM_002693.2(POLG):c.2264A>C (p.Lys755Thr) rs770438363
NM_002693.2(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) rs769827124
NM_002693.2(POLG):c.2481-10A>C rs555280530
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.2541C>T (p.Ala847=) rs143810171
NM_002693.2(POLG):c.2554C>T rs144500145
NM_002693.2(POLG):c.2563G>T (p.Val855Leu) rs771254207
NM_002693.2(POLG):c.2573C>T (p.Thr858Ile) rs759128787
NM_002693.2(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.2(POLG):c.2620T>A (p.Leu874Met) rs758402960
NM_002693.2(POLG):c.2636A>G (p.Gln879Arg) rs368587966
NM_002693.2(POLG):c.2642C>T (p.Pro881Leu) rs375935084
NM_002693.2(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.2663G>A (p.Gly888Asp) rs878854560
NM_002693.2(POLG):c.2735-7C>G rs200372494
NM_002693.2(POLG):c.2740A>C (p.Thr914Pro) rs139590686
NM_002693.2(POLG):c.2853C>T (p.Tyr951=) rs41546712
NM_002693.2(POLG):c.2857C>T (p.Arg953Cys) rs11546842
NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.2(POLG):c.2870C>T (p.Ala957Val) rs753160398
NM_002693.2(POLG):c.2880C>T (p.Pro960=) rs752500492
NM_002693.2(POLG):c.2958C>T (p.Tyr986=) rs2307431
NM_002693.2(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.2(POLG):c.3075G>A (p.Leu1025=) rs146404260
NM_002693.2(POLG):c.3104+8C>A rs754615624
NM_002693.2(POLG):c.3105-11T>C rs2302084
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3151G>A (p.Gly1051Arg) rs121918049
NM_002693.2(POLG):c.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.3216C>G (p.Thr1072=) rs146936870
NM_002693.2(POLG):c.3222G>T (p.Val1074=) rs746773616
NM_002693.2(POLG):c.3258G>A (p.Ser1086=) rs763312940
NM_002693.2(POLG):c.3273+6T>A rs886051522
NM_002693.2(POLG):c.3273+8G>A rs776468044
NM_002693.2(POLG):c.3274-19G>A rs116925016
NM_002693.2(POLG):c.3285C>G (p.Ser1095Arg) rs761649878
NM_002693.2(POLG):c.3286C>T (p.Arg1096Cys) rs201732356
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002693.2(POLG):c.328C>T (p.His110Tyr) rs139599587
NM_002693.2(POLG):c.3294T>C (p.Asn1098=) rs374224714
NM_002693.2(POLG):c.32G>A rs765472726
NM_002693.2(POLG):c.3383G>A (p.Arg1128His) rs1405268319
NM_002693.2(POLG):c.3405C>T (p.Asp1135=) rs2307445
NM_002693.2(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) rs2307440
NM_002693.2(POLG):c.3450C>T (p.Ala1150=) rs774880085
NM_002693.2(POLG):c.3451C>T (p.Leu1151=) rs769193603
NM_002693.2(POLG):c.3482+44G>A rs3176228
NM_002693.2(POLG):c.3482+6C>T rs55779802
NM_002693.2(POLG):c.3482+7G>A rs200309191
NM_002693.2(POLG):c.3483-2A>G rs1057518035
NM_002693.2(POLG):c.3516C>G (p.Asp1172Glu) rs766196697
NM_002693.2(POLG):c.3519G>A (p.Leu1173=) rs953889846
NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) rs369544574
NM_002693.2(POLG):c.3561G>C (p.Arg1187=) rs62640037
NM_002693.2(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.2(POLG):c.3586G>A (p.Asp1196Asn) rs765344513
NM_002693.2(POLG):c.3614G>C (p.Gly1205Ala) rs772737979
NM_002693.2(POLG):c.3640C>T (p.Gln1214Ter) rs781256643
NM_002693.2(POLG):c.3643+180G>A rs3176238
NM_002693.2(POLG):c.3643+48A>G rs2307454
NM_002693.2(POLG):c.3644-16T>C rs536522307
NM_002693.2(POLG):c.3644-9A>G rs115048121
NM_002693.2(POLG):c.3652C>T (p.Leu1218=) rs146301349
NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) rs148786642
NM_002693.2(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374
NM_002693.2(POLG):c.391T>C (p.Tyr131His) rs562847013
NM_002693.2(POLG):c.408C>G (p.Asp136Glu) rs115109291
NM_002693.2(POLG):c.428C>T (p.Ala143Val) rs796052899
NM_002693.2(POLG):c.578G>A (p.Arg193Gln) rs3176162
NM_002693.2(POLG):c.678G>C (p.Gln226His) rs147282197
NM_002693.2(POLG):c.679C>T (p.Arg227Trp) rs121918056
NM_002693.2(POLG):c.798G>T (p.Val266=) rs143631183
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.2(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.2(POLG):c.852C>T (p.Ile284=) rs41540414
NM_002693.2(POLG):c.855G>C (p.Gln285His) rs141367015
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_002693.2(POLG):c.915C>G (p.Ser305Arg) rs769410130
NM_002693.2(POLG):c.948G>A (p.Lys316=) rs61756401
NM_002693.2(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val) rs397514612
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys) rs775690041
NM_006567.5(FARS2):c.1268G>A (p.Arg423Gln) rs148921184
NM_006567.5(FARS2):c.170C>G (p.Ser57Cys) rs34382405
NM_006567.5(FARS2):c.407C>A (p.Pro136His) rs199863563
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006567.5(FARS2):c.461C>T (p.Ala154Val) rs749588235
NM_006567.5(FARS2):c.462G>T (p.Ala154=) rs150477330
NM_006567.5(FARS2):c.476A>C (p.His159Pro) rs1561990390
NM_006567.5(FARS2):c.506A>T (p.Asp169Val) rs146356199
NM_006567.5(FARS2):c.515_517TGG[2] (p.Val174del) rs1554169392
NM_006567.5(FARS2):c.550G>A (p.Asp184Asn) rs554931092
NM_006567.5(FARS2):c.606G>A (p.Lys202=) rs17851782
NM_006567.5(FARS2):c.676C>T (p.His226Tyr) rs201991648
NM_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033
NM_006567.5(FARS2):c.768A>C (p.Gly256=) rs200003967
NM_006567.5(FARS2):c.819T>A (p.Pro273=) rs201042275
NM_006567.5(FARS2):c.873C>T (p.Cys291=) rs372301183
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr) rs764427452
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr) rs397514611
Single allele rs375986475
m.10044A>G rs41362547
m.10237T>C rs1556423787
m.10398A>G rs2853826
m.10663T>C rs1556423844
m.11084A>G rs199476113
m.11253T>C rs200145866
m.11696G>A rs200873900
m.12192G>A rs3134560
m.12201T>C rs387906733
m.12297T>C rs121434464
m.12338T>C rs201863060
m.12397A>G rs1556424100
m.12706T>C rs267606893
m.12811T>C rs199974018
m.13637A>G rs200855215
m.13708G>A rs28359178
m.14279G>A rs869025187
m.14319T>C rs199476110
m.14325T>C rs397515505
m.14453G>A rs199476107
m.14459G>A rs199476105
m.14498T>C rs869025186
m.14674T>C rs387906421
m.14709T>C rs121434453
m.14766C>T rs193302980
m.14831G>A rs199795644
m.14849T>C rs207460004
m.14985G>A rs207459995
m.15257G>A rs41518645
m.15287T>C rs527236044
m.15326A>G rs2853508
m.15497G>A rs199951903
m.15498G>A rs207460003
m.15579A>G rs207460002
m.15615G>A rs207459997
m.15812G>A rs200336777
m.15950G>A rs118203890
m.15965A>G rs199474700
m.1624C>T rs199476144
m.3242G>A rs193303018
m.3250T>C rs199474664
m.3252A>G rs199474661
m.3290T>C rs199474665
m.3308T>C rs28358582
m.3308T>G rs28358582
m.3388C>A rs387906730
m.3394T>C rs41460449
m.3397A>G rs199476120
m.3635G>A rs397515507
m.3697G>A rs199476122
m.3796A>G rs28357970
m.4025C>T rs397515509
m.4136A>G rs199476121
m.4171C>A rs28616230
m.4216T>C rs1599988
m.4284G>A rs121434468
m.4290T>C rs121434469
m.4295A>G rs121434467
m.4317A>G rs121434465
m.4336T>C rs41456348
m.4640C>A rs387906426
m.4917A>G rs28357980
m.5814T>C rs200077222
m.5843A>G rs118203894
m.6264G>A rs267606882
m.6480G>A rs199476128
m.6489C>A rs28461189
m.7468C>T rs111033173
m.7471C>T rs397515726
m.7471delC rs111033319
m.7476C>T rs201950015
m.8296A>G rs118192102
m.8393C>T rs1556423442
m.9101T>C rs199476134
m.9438G>A rs267606611
m.9804G>A rs200613617

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