ClinVar Miner

Variants from Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center: Collection method of the submission from Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center:
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
1895 571 3 273 73 15 115 437

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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center pathogenic likely pathogenic uncertain significance likely benign benign drug response established risk allele pathogenic, low penetrance protective risk factor other
pathogenic 1 126 19 0 0 3 0 3 1 3 1
likely pathogenic 139 0 45 2 2 1 2 0 0 2 0
uncertain significance 25 34 2 65 21 0 0 0 0 0 2
likely benign 0 0 0 0 1 0 0 0 0 0 0
benign 0 0 0 7 0 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 156
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
Invitae 0 274 0 58 31 3 26 118
GeneDx 0 253 0 22 24 1 31 78
PreventionGenetics, part of Exact Sciences 0 86 0 6 26 1 7 40
OMIM 0 124 0 28 0 5 1 34
Fulgent Genetics, Fulgent Genetics 0 61 0 27 0 0 2 29
Baylor Genetics 0 100 0 25 0 0 3 28
CeGaT Center for Human Genetics Tuebingen 0 90 0 6 13 0 9 28
Revvity Omics, Revvity 0 107 0 18 0 0 5 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 104 0 13 8 0 2 23
Counsyl 0 23 0 17 0 0 2 19
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 50 0 9 8 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 67 0 8 5 1 2 16
Eurofins Ntd Llc (ga) 0 84 0 5 4 3 4 16
Ambry Genetics 0 63 0 0 10 0 4 14
Illumina Laboratory Services, Illumina 0 53 0 7 2 0 5 14
Mendelics 0 30 0 11 0 0 2 13
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 39 0 8 3 0 2 13
Institute of Human Genetics, University of Leipzig Medical Center 0 49 0 8 0 0 5 13
Natera, Inc. 0 46 0 6 2 0 4 12
3billion 0 41 0 12 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 43 0 7 0 0 4 11
Athena Diagnostics Inc 0 36 0 2 4 0 4 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 18 0 5 0 1 3 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 10 0 6 2 0 1 9
Quest Diagnostics Nichols Institute San Juan Capistrano 0 14 0 4 3 0 1 8
Myriad Genetics, Inc. 0 35 0 8 0 0 0 8
Genome-Nilou Lab 0 44 0 8 0 0 0 8
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 9 0 4 0 0 3 7
Genetic Services Laboratory, University of Chicago 0 33 0 4 1 0 1 6
Mayo Clinic Laboratories, Mayo Clinic 0 56 0 5 0 0 1 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 24 0 5 0 0 1 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 15 0 1 3 0 2 6
SIB Swiss Institute of Bioinformatics 0 6 0 5 0 0 1 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 34 0 6 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 40 0 1 3 0 2 6
LDLR-LOVD, British Heart Foundation 0 3 0 4 0 0 1 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 21 0 3 2 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 17 0 2 0 0 3 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 14 0 4 0 0 1 5
Genomics England Pilot Project, Genomics England 0 7 0 5 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 17 0 2 2 0 0 4
PharmGKB 0 0 0 0 0 4 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 17 0 4 0 0 0 4
AiLife Diagnostics, AiLife Diagnostics 0 11 0 3 0 0 1 4
MGZ Medical Genetics Center 0 37 0 2 0 0 1 3
Clinical Genetics, Academic Medical Center 0 20 0 0 2 0 1 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 11 0 3 0 0 0 3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 1 0 0 2 3
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre 0 0 0 3 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 2 0 0 1 3
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 2 0 0 1 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 27 0 2 0 0 1 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 4 0 2 0 0 1 3
Fundacion Hipercolesterolemia Familiar 0 1 0 2 0 0 1 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 14 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 27 0 3 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 1 0 0 0 1 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 10 0 2 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 6 0 1 0 0 1 2
UCLA Clinical Genomics Center, UCLA 0 2 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 4 0 1 0 1 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 5 0 1 0 0 1 2
Robarts Research Institute, Western University 0 1 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 6 0 2 0 0 0 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 4 0 2 0 0 0 2
Iberoamerican FH Network 0 0 0 0 0 0 2 2
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 0 0 0 0 0 0 2 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 3 0 2 0 0 0 2
Gharavi Laboratory, Columbia University 0 4 0 1 0 0 1 2
Johns Hopkins Genomics, Johns Hopkins University 0 14 0 2 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 7 0 1 0 0 1 2
New York Genome Center 0 19 0 2 0 0 0 2
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 3 0 0 0 0 2 2
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 2 0 2 0 0 0 2
DASA 0 17 0 2 0 0 0 2
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 1 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 10 0 2 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 0 4 0 2 0 0 0 2
All of Us Research Program, National Institutes of Health 0 15 0 2 0 0 0 2
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 10 0 1 0 0 0 1
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 2 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 1 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 16 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 0 0 1 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 2 0 1 0 0 0 1
GeneReviews 0 47 1 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 1
Blueprint Genetics 0 17 0 0 0 0 1 1
RettBASE 0 4 0 0 0 0 1 1
Department of Genetics, Robert DEBRE University Hospital 0 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 3 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 3 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 4 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 3 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 4 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 12 0 1 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 17 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 14 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 4 0 0 0 0 1 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 3 0 0 0 0 1 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 2 0 0 0 0 1 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 9 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 0 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 11 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 1 0 0 0 0 1 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 3 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 3 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 11 0 1 0 0 0 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 1 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 20 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 7 0 0 0 1 0 1
Institute of Medical Genetics, University of Zurich 0 1 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 0 1
Dan Cohn Lab, University Of California Los Angeles 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 3 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 4 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 8 0 1 0 0 0 1
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 1 0 1 0 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 3 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 10 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 2 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 3 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 2 0 0 0 1 0 1
Wessex Regional Genetics Laboratory, Salisbury District Hospital 0 1 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 4 0 0 0 0 1 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 0 0 1
deCODE genetics, Amgen 0 0 0 1 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 0 0 0 0 0 1 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 10 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
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 5 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 2 0 0 0 0 1 1
Suma Genomics 0 4 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 6 0 0 0 0 1 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 1 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 5 0 1 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 0 1 0 0 0 1
Eurofins-Biomnis 0 0 0 0 0 0 1 1
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen 0 2 0 1 0 0 0 1
Département de Neurologie, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute 0 0 0 1 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 437
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_016233.2(PADI3):c.335T>A (p.Leu112His) rs142129409 0.00502
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro) rs149602485 0.00217
NM_198514.4(NHLRC2):c.1823C>T (p.Ala608Val) rs150975627 0.00217
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg) rs139010200 0.00216
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_198514.4(NHLRC2):c.1751T>C (p.Leu584Pro) rs144606661 0.00213
NM_003356.4(UCP3):c.427C>T (p.Arg143Ter) rs104894319 0.00194
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_001041.4(SI):c.1111G>A (p.Val371Met) rs138434001 0.00165
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214 0.00145
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His) rs202106628 0.00140
NM_000213.5(ITGB4):c.3112-3C>T rs151033645 0.00138
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_020632.3(ATP6V0A4):c.1048A>G (p.Met350Val) rs76977934 0.00126
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534 0.00123
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885 0.00121
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu) rs147577332 0.00118
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_004333.6(BRAF):c.1433-19A>G rs369635503 0.00114
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=) rs144290224 0.00067
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_003907.3(EIF2B5):c.299C>T (p.Ala100Val) rs150531914 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter) rs137891647 0.00047
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu) rs141181035 0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) rs140076803 0.00036
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro) rs200530055 0.00029
NM_004482.4(GALNT3):c.16C>T (p.Arg6Ter) rs376963628 0.00029
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00029
NM_001930.4(DHPS):c.1014+1G>A rs142633494 0.00028
NM_002303.6(LEPR):c.1030G>A (p.Val344Ile) rs145668112 0.00026
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_000124.4(ERCC6):c.1772C>T (p.Pro591Leu) rs115876786 0.00024
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_002016.2(FLG):c.94G>T (p.Glu32Ter) rs114733570 0.00021
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro) rs141616288 0.00021
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_003235.5(TG):c.4378G>A (p.Val1460Ile) rs199615848 0.00019
NM_015665.6(AAAS):c.996+12C>T rs200312077 0.00019
NM_001303.4(COX10):c.624+4A>G rs199668725 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=) rs193922546 0.00016
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748 0.00013
NM_005633.4(SOS1):c.1668A>C (p.Val556=) rs376314461 0.00013
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=) rs193922545 0.00012
NM_152713.5(STT3A):c.615+6T>C rs767197223 0.00012
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr) rs782767733 0.00010
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812 0.00010
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_016111.4(TELO2):c.2312T>C (p.Leu771Ser) rs201230315 0.00009
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met) rs1301772452 0.00008
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp) rs757369063 0.00007
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_017721.5(CC2D1A):c.498C>T (p.Tyr166=) rs373022042 0.00007
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer) rs772570880 0.00006
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) rs145191476 0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) rs121912980 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_004606.5(TAF1):c.3227+8G>A rs373273976 0.00005
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys) rs374322839 0.00005
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu) rs747965749 0.00005
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_001195518.2(MICU1):c.161+1G>A rs375502236 0.00004
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys) rs775426647 0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_005912.3(MC4R):c.896C>A (p.Pro299His) rs52804924 0.00004
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp) rs769570290 0.00004
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr) rs372993798 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His) rs281864919 0.00003
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg) rs556552435 0.00003
NM_002340.6(LSS):c.1194+5G>A rs748758448 0.00003
NM_002755.4(MAP2K1):c.693+10G>A rs377034924 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_014804.3(KIAA0753):c.2656C>T (p.Arg886Ter) rs370840009 0.00003
NM_015559.3(SETBP1):c.62C>T (p.Pro21Leu) rs758194735 0.00003
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) rs762811727 0.00003
NM_144773.4(PROKR2):c.742C>T (p.Arg248Trp) rs483352766 0.00003
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) rs770311534 0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn) rs758829443 0.00002
NM_000303.3(PMM2):c.447+5G>A rs367852554 0.00002
NM_000399.5(EGR2):c.1395G>A (p.Pro465=) rs779811073 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000426.4(LAMA2):c.6429+1G>T rs1262029350 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_002880.4(RAF1):c.1113T>C (p.Asp371=) rs146668293 0.00002
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter) rs765769406 0.00002
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_007059.4(KPTN):c.863G>A (p.Arg288Gln) rs772378754 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn) rs550855238 0.00002
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs) rs758687208 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000153.4(GALC):c.583-6T>A rs398123176 0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825 0.00001
NM_000257.4(MYH7):c.2135G>T (p.Arg712Leu) rs1224554825 0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) rs1413274209 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) rs767618089 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs) rs967826828 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met) rs1358566538 0.00001
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001371928.1(AHDC1):c.4031T>C (p.Ile1344Thr) rs1467982801 0.00001
NM_001374828.1(ARID1B):c.283G>A (p.Gly95Ser) rs797045273 0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 0.00001
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp) rs587777334 0.00001
NM_005633.4(SOS1):c.3282T>G (p.Gly1094=) rs145357714 0.00001
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr) rs372249044 0.00001
NM_006231.4(POLE):c.4111C>T (p.Arg1371Ter) rs151278283 0.00001
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter) rs148069173 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_006922.4(SCN3A):c.1855G>A (p.Glu619Lys) rs577018955 0.00001
NM_012123.4(MTO1):c.791C>T (p.Pro264Leu) rs1025884753 0.00001
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys) rs1269546947 0.00001
NM_014712.3(SETD1A):c.2737C>T (p.Arg913Cys) rs2056165149 0.00001
NM_017775.4(TTC19):c.1A>G (p.Met1Val) rs749196122 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_019842.4(KCNQ5):c.89G>A (p.Gly30Glu) rs756542782 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022552.5(DNMT3A):c.875T>C (p.Ile292Thr) rs777306476 0.00001
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_031407.7(HUWE1):c.11747C>T (p.Pro3916Leu) rs1430366832 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) rs933746831 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr) rs398123523 0.00001
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe) rs1085307410
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000071.3(CBS):c.429C>G (p.Ile143Met) rs370167302
NM_000085.5(CLCNKB):c.376del (p.Glu125_Val126insTer) rs2023146719
NM_000088.4(COL1A1):c.958-1G>A rs72645352
NM_000091.5(COL4A3):c.1311G>T (p.Pro437=) rs369557944
NM_000091.5(COL4A3):c.4028-15T>C rs764478470
NM_000092.5(COL4A4):c.4082-1G>T rs1559438651
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000170.3(GLDC):c.2259C>G (p.His753Gln) rs2129719894
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile) rs199473018
NM_000243.3(MEFV):c.1759+1G>A rs876660996
NM_000271.5(NPC1):c.67del (p.Gln23fs) rs886043131
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000277.3(PAH):c.842C>A (p.Pro281His) rs5030851
NM_000314.8(PTEN):c.972_977del (p.Leu325_Asp326del) rs1860630372
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000388.4(CASR):c.664G>A (p.Gly222Arg) rs2107632066
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=) rs1553515794
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) rs759202962
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg) rs1085308012
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs) rs387906510
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) rs879254524
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000530.8(MPZ):c.700G>T (p.Glu234Ter) rs1670224976
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu) rs145167688
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000944.5(PPP3CA):c.843C>G (p.His281Gln) rs199706529
NM_001001331.4(ATP2B2):c.1427A>G (p.Lys476Arg)
NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del) rs1064794465
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu) rs2092438025
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val) rs1554778420
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001040142.2(SCN2A):c.81A>G (p.Gln27=) rs1162322343
NM_001042492.3(NF1):c.1658A>C (p.His553Pro) rs1064794274
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.4333-2A>G rs1555618634
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu) rs1555618675
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter) rs1060500333
NM_001042492.3(NF1):c.888+789A>G rs1597660974
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter) rs1555349209
NM_001083962.2(TCF4):c.1165C>T (p.Arg389Cys) rs2145503179
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001101376.3(CFAP144):c.298A>G (p.Ile100Val)
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001126108.2(SLC12A3):c.852+1G>A rs2055084531
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) rs2058057299
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile) rs546338962
NM_001145165.2(DOHH):c.654_655insAACC (p.Glu219fs) rs761870531
NM_001164508.2(NEB):c.18228_18229insCC (p.Arg6077fs)
NM_001165963.4(SCN1A):c.383+5C>A rs1060502185
NM_001170629.2(CHD8):c.846T>C (p.Gly282=)
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys) rs2040817364
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001320.7(CSNK2B):c.292-2A>G rs1802000298
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs) rs769566928
NM_001348716.2(KDM6B):c.445C>T (p.Arg149Ter) rs1419917079
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001351169.2(NT5C2):c.312_313del (p.Leu105fs) rs763305896
NM_001356.5(DDX3X):c.1462C>T (p.Arg488Cys) rs796052234
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001369268.1(ACAN):c.7512T>G (p.Tyr2504Ter) rs1567195445
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001386125.1(OBSCN):c.23838del (p.Ser7947fs)
NM_001399.5(EDA):c.706+1G>A rs886039344
NM_001399.5(EDA):c.798T>C (p.Leu266=) rs2147516257
NM_001561.6(TNFRSF9):c.573del (p.Ala193fs) rs1639761448
NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe) rs1057521655
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) rs578184315
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser) rs1231842600
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002232.5(KCNA3):c.1363A>G (p.Ile455Val) rs2100949783
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter) rs2098614719
NM_002381.5(MATN3):c.653A>G (p.Tyr218Cys) rs1673092558
NM_002474.3(MYH11):c.1069_1082del (p.Gly357fs) rs1235801428
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del) rs41550117
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.970C>A (p.Pro324Thr) rs2307437
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003709.4(KLF7):c.410C>T (p.Thr137Met) rs1276619385
NM_003754.3(EIF3F):c.591C>T (p.Pro197=)
NM_003922.4(HERC1):c.6586C>T (p.Arg2196Ter) rs774206954
NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter) rs370032584
NM_004333.6(BRAF):c.111G>A (p.Ser37=) rs727502906
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004429.5(EFNB1):c.161C>T (p.Pro54Leu) rs104894801
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter) rs749085653
NM_004818.3(DDX23):c.1886T>G (p.Ile629Ser) rs1938405472
NM_004818.3(DDX23):c.2264C>T (p.Thr755Met) rs1938372282
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005639.3(SYT1):c.926C>T (p.Ser309Phe) rs2136007588
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) rs1362648752
NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln) rs2121246284
NM_006015.6(ARID1A):c.3426G>T (p.Gln1142His) rs2124103896
NM_006218.4(PIK3CA):c.1345C>A (p.Pro449Thr) rs1724674149
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro) rs200018596
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006494.4(ERF):c.194G>A (p.Arg65Gln) rs587777009
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) rs864309522
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_007059.4(KPTN):c.863+5G>A rs774473819
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys) rs2045826576
NM_012179.4(FBXO7):c.1033C>T (p.Arg345Ter)
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012309.5(SHANK2):c.2521C>T (p.Arg841Ter)
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) rs1402092579
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp) rs2033536147
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys) rs2147938135
NM_014305.4(TGDS):c.270_271del (p.Lys91fs) rs727502809
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_014738.6(TMEM94):c.1672C>T (p.Leu558=)
NM_014795.4(ZEB2):c.3047G>A (p.Arg1016Gln) rs2149875484
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)
NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly) rs1553318223
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter) rs2071226510
NM_015001.3(SPEN):c.6223_6227del (p.Ser2075fs) rs2148741007
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs) rs748735420
NM_016580.4(PCDH12):c.309del (p.Cys104fs) rs1753206427
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017934.7(PHIP):c.187C>T (p.Leu63=) rs1774230017
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018255.4(ELP2):c.293dup (p.Leu98fs) rs529659464
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019892.6(INPP5E):c.473del (p.Gly158fs) rs779450345
NM_020771.4(HACE1):c.2552dup (p.Gly852fs) rs745394044
NM_020987.5(ANK3):c.4365_4368del (p.Arg1456fs) rs2084966849
NM_021224.6(ZNF462):c.4180del (p.Trp1394fs)
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_033380.3(COL4A5):c.2294del (p.Pro765fs) rs2066735315
NM_057175.5(NAA15):c.1841dup (p.Asn614fs) rs1283385686
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn) rs2145836461
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter) rs1057516559
NM_152564.5(VPS13B):c.9331-1G>A rs386834119
NM_152594.3(SPRED1):c.867dup (p.Ser290fs)
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641
NM_176806.4(MOCS2):c.-8_15del (p.Met1fs) rs397518417
NM_182931.3(KMT2E):c.5153C>T (p.Pro1718Leu) rs1799386566
NM_205861.3(DHDDS):c.110G>A (p.Arg37His) rs1553121073

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