ClinVar Miner

Variants from Johns Hopkins Genomics, Johns Hopkins University with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Johns Hopkins Genomics, Johns Hopkins University: Collection method of the submission from Johns Hopkins Genomics, Johns Hopkins University:
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
870 458 4 275 110 1 121 433

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
Johns Hopkins Genomics, Johns Hopkins University pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 3 124 17 0 0 0
likely pathogenic 84 1 57 3 2 0
uncertain significance 23 30 0 30 14 1
likely benign 3 3 51 0 41 0
benign 2 0 16 26 0 0

Submitter to submitter summary #

Total submitters: 141
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 0 349 1 55 38 1 37 132
Ambry Genetics 0 206 0 31 17 0 23 71
Counsyl 0 72 0 35 9 0 27 71
Genome-Nilou Lab 0 113 0 23 21 0 17 61
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 180 0 32 4 0 10 46
Mendelics 0 96 0 21 4 0 15 40
Illumina Laboratory Services, Illumina 0 71 0 19 19 0 1 39
Institute of Human Genetics, University of Leipzig Medical Center 0 86 0 18 12 0 6 36
OMIM 0 123 2 16 1 0 9 28
Natera, Inc. 0 71 0 10 14 0 2 26
Fulgent Genetics, Fulgent Genetics 0 80 0 17 0 0 5 22
Department of Pathology and Laboratory Medicine, Sinai Health System 0 31 0 7 6 0 7 20
3billion 0 45 0 10 2 0 6 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 37 0 9 4 0 5 18
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 27 0 3 5 0 8 16
Baylor Genetics 0 88 0 10 2 0 2 14
Revvity Omics, Revvity 0 45 0 6 4 0 1 11
Myriad Genetics, Inc. 0 70 0 8 1 0 0 9
Variantyx, Inc. 0 27 0 5 0 0 4 9
GeneDx 0 10 0 5 3 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 68 0 5 0 0 3 8
CFTR-France 0 77 0 7 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 0 21 0 2 2 0 3 7
Genomics England Pilot Project, Genomics England 0 3 0 7 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 16 0 3 0 0 4 7
MGZ Medical Genetics Center 0 29 0 5 2 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 30 0 3 1 0 3 7
Department of Human Genetics, Hannover Medical School 0 10 0 6 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 28 0 6 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 15 0 4 0 0 1 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 47 0 2 1 0 1 4
CFTR2 0 118 0 2 2 0 0 4
Dasa 0 13 0 4 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 4 0 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 0 18 0 3 0 0 1 4
SIB Swiss Institute of Bioinformatics 0 4 0 3 1 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 9 0 1 2 0 1 4
All of Us Research Program, National Institutes of Health 0 17 0 1 0 0 2 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 9 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 11 0 3 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 0 3 0 2 0 0 1 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 2 0 1 1 0 1 3
Eurofins Ntd Llc (ga) 0 4 0 0 3 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 16 0 1 0 0 2 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 11 0 1 0 0 2 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 9 0 2 0 0 1 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 11 0 3 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 25 0 2 0 0 1 3
Molecular Genetics, Royal Melbourne Hospital 0 7 0 3 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 1 2 0 0 3
UCLA Clinical Genomics Center, UCLA 0 0 0 3 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 8 0 1 2 0 0 3
Arcensus 0 2 0 1 0 0 1 2
CSER _CC_NCGL, University of Washington 0 2 0 0 1 0 1 2
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 1 2
CeGaT Center for Human Genetics Tuebingen 0 7 0 1 1 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 10 0 1 0 0 1 2
Color Diagnostics, LLC DBA Color Health 0 10 0 2 0 0 0 2
Dunham Lab, University of Washington 0 3 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 11 0 2 0 0 0 2
Genetics Department, Catlab 0 0 0 1 0 0 1 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 17 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 11 0 1 0 0 1 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 7 0 1 0 0 1 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 10 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 8 0 1 1 0 0 2
LDLR-LOVD, British Heart Foundation 0 0 0 2 0 0 0 2
Pars Genome Lab 0 1 0 0 2 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 5 0 1 0 0 1 2
UW Hindbrain Malformation Research Program, University of Washington 0 2 0 2 0 0 0 2
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
BRCAlab, Lund University 0 6 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 6 0 1 0 0 0 1
Blueprint Genetics 0 0 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA2) 0 4 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 5 0 0 0 0 1 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 of Medical Genetics, University Hospital Muenster 0 3 0 0 1 0 0 1
Centre of Medical Genetics, University of Antwerp 0 0 0 0 1 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 0 0 1 0 0 0 1
ClinGen TP53 Variant Curation Expert Panel, ClinGen 0 1 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 50 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 10 0 1 0 0 0 1
Clinical Genomics Labs, University Health Network 0 2 0 0 0 0 1 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 5 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 7 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 4 1 0 0 0 0 1
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris 0 0 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 4 0 0 0 0 1 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 2 0 0 0 0 1 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 0 0 0 1 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 0 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 10 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 6 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 3 0 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 0 23 0 0 1 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 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 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 0 0 1 0 0 0 1
Genomenon, Inc, Genomenon, Inc 0 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 5 0 1 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 3 0 0 0 0 1 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 1 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 5 0 0 0 0 1 1
Institute of Genomics, University of Tartu 0 1 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 5 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 3 0 0 0 0 1 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 1 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 4 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 7 0 1 0 0 0 1
Laboratory of Hematology, Radboud University Medical Center 0 1 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 0 0 0 0 0 1 1
Lifecell International Pvt. Ltd 0 4 0 1 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 2 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 4 0 0 1 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 0 0 0 1 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, Fox Chase Cancer Center - Temple Health 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 6 0 1 0 0 0 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 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 3 0 1 0 0 0 1
New York Genome Center 0 12 0 0 0 0 1 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 0 0 0 1 0 0 0 1
PXE International 0 2 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 8 0 1 0 0 0 1
Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul 0 0 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 0 1 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 5 0 1 0 0 0 1
Robarts Research Institute, Western University 0 1 0 1 0 0 0 1
Sema4, Sema4 0 0 0 1 0 0 0 1
Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 5 0 1 0 0 0 1
Vasylyeva lab, Texas Tech University Health Sciences Center 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 433
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46878
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) rs1800450 0.11335
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01412
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613 0.00896
NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=) rs35082161 0.00894
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610 0.00894
NM_001317778.2(SFTPC):c.43-7G>A rs79440568 0.00801
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser) rs34962745 0.00686
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00634
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00475
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00417
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln) rs34957318 0.00417
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00393
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) rs147542347 0.00389
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) rs35307405 0.00385
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00378
NM_001089.3(ABCA3):c.1869C>T (p.Val623=) rs145502164 0.00371
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880 0.00329
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln) rs143192349 0.00328
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00293
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00261
NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg) rs149578279 0.00256
NM_000243.3(MEFV):c.97G>T (p.Val33Leu) rs11466016 0.00250
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) rs149484917 0.00246
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys) rs145976111 0.00214
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu) rs104895100 0.00207
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00191
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00172
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00172
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) rs148671332 0.00172
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00168
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539 0.00160
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=) rs143552557 0.00157
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00149
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_153614.4(DNAJB13):c.757G>A (p.Asp253Asn) rs140556652 0.00139
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448 0.00132
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00131
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055 0.00123
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00115
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00113
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574 0.00111
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00103
NM_001089.3(ABCA3):c.393C>T (p.Ala131=) rs145383120 0.00102
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00093
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) rs151234321 0.00086
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu) rs142585703 0.00079
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445 0.00074
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_001014342.3(FLG2):c.3101_3104del (p.Gln1034fs) rs556285121 0.00066
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_000492.4(CFTR):c.*2G>A rs150914702 0.00056
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00055
NM_001089.3(ABCA3):c.753C>T (p.Ile251=) rs146161376 0.00053
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621 0.00051
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806 0.00051
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00049
NM_001079668.3(NKX2-1):c.29G>A (p.Arg10Gln) rs201979429 0.00048
NM_080860.4(RSPH1):c.275-2A>C rs151107532 0.00048
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00047
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00045
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00043
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val) rs201685063 0.00041
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) rs145251229 0.00039
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr) rs140311741 0.00039
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser) rs34938432 0.00037
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00037
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_017654.4(SAMD9):c.1058C>T (p.Thr353Met) rs138478808 0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
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_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00028
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=) rs79688066 0.00025
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys) rs139334561 0.00024
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00022
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617 0.00022
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00021
NM_001371623.1(TCOF1):c.1130C>T (p.Pro377Leu) rs189476787 0.00021
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00021
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211 0.00020
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) rs35993958 0.00019
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00019
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr) rs149642543 0.00019
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His) rs141764916 0.00016
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp) rs200372420 0.00014
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00013
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00013
NM_005518.4(HMGCS2):c.726C>G (p.Tyr242Ter) rs145838142 0.00012
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075 0.00011
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser) rs34014629 0.00011
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His) rs376968326 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr) rs200039720 0.00011
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly) rs377386505 0.00011
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=) rs148878126 0.00010
NM_001089.3(ABCA3):c.3207C>T (p.His1069=) rs151260964 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 0.00009
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=) rs55928397 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala) rs374930028 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00008
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe) rs143456784 0.00008
NM_000552.5(VWF):c.8273C>T (p.Ala2758Val) rs144542595 0.00008
NM_001114753.3(ENG):c.1852+21C>G rs147188969 0.00008
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00007
NM_172351.3(CD46):c.944-1G>C rs140298514 0.00007
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00006
NM_144997.7(FLCN):c.1274A>G (p.Gln425Arg) rs786203348 0.00006
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00005
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314 0.00005
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00005
NM_001006658.3(CR2):c.658C>T (p.Arg220Ter) rs141472681 0.00005
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met) rs779789452 0.00005
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00005
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln) rs781326398 0.00005
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs) rs1194089098 0.00005
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter) rs201707868 0.00005
NM_198253.3(TERT):c.2141C>T (p.Thr714Met) rs772441504 0.00005
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) rs782563602 0.00004
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln) rs768527231 0.00004
NM_017780.4(CHD7):c.521C>T (p.Pro174Leu) rs767279224 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu) rs772379819 0.00003
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861 0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.1679+9C>G rs775440240 0.00003
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00003
NM_000492.4(CFTR):c.26C>T (p.Ala9Val) rs949472192 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000548.5(TSC2):c.3542C>T (p.Thr1181Met) rs373481458 0.00003
NM_001134363.3(RBM20):c.2149C>A (p.Gln717Lys) rs551819918 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_198253.3(TERT):c.193C>G (p.Pro65Ala) rs544215765 0.00003
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp) rs782760033 0.00002
NM_000195.5(HPS1):c.398+2T>C rs1486224265 0.00002
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.490-1G>A rs397508734 0.00002
NM_000548.5(TSC2):c.3028C>G (p.Gln1010Glu) rs45514100 0.00002
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg) rs767059758 0.00002
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_001089.3(ABCA3):c.128G>A (p.Arg43His) rs754714105 0.00002
NM_001171.6(ABCC6):c.3735G>T (p.Glu1245Asp) rs281865557 0.00002
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973 0.00002
NM_001364171.2(ODAD1):c.707C>T (p.Ala236Val) rs374990723 0.00002
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter) rs1057516045 0.00002
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874 0.00002
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914 0.00002
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp) rs374172791 0.00001
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys) rs777789161 0.00001
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102 0.00001
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) rs79184941 0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln) rs79653797 0.00001
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878 0.00001
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn) rs758900656 0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr) rs397508222 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser) rs762224063 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) rs397508293 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.273+4A>G rs387906374 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) rs397508444 0.00001
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) rs397508462 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.3118C>T (p.Leu1040Phe) rs1562914212 0.00001
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile) rs140883683 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.4186A>C (p.Thr1396Pro) rs375552160 0.00001
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser) rs397508692 0.00001
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) rs121908802 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000492.4(CFTR):c.744-6T>G rs878854022 0.00001
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000548.5(TSC2):c.3793C>T (p.Pro1265Ser) rs45517311 0.00001
NM_000548.5(TSC2):c.4039C>G (p.Leu1347Val) rs377050648 0.00001
NM_001022.4(RPS19):c.393G>A (p.Leu131=) rs1447794153 0.00001
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala) rs747584987 0.00001
NM_001042492.3(NF1):c.6316G>A (p.Val2106Ile) rs755791578 0.00001
NM_001163435.3(TBCK):c.381+1G>A rs1762560983 0.00001
NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter) rs377691013 0.00001
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys) rs727502967 0.00001
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu) rs1190944498 0.00001
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter) rs80356520 0.00001
NM_004371.4(COPA):c.2809G>A (p.Glu937Lys) rs552778606 0.00001
NM_004371.4(COPA):c.2993C>T (p.Ala998Val) rs761919408 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_015114.3(ANKLE2):c.1606C>T (p.Arg536Cys) rs761627940 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_198253.3(TERT):c.2419G>A (p.Asp807Asn) rs1169312254 0.00001
G6PD NARA rs587776730
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1529G>A (p.Gly510Asp) rs2148397558
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro) rs2091762647
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs) rs2148388986
NM_000033.4(ABCD1):c.422C>T (p.Ala141Val) rs1603231911
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser) rs1557052390
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del) rs387906496
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp) rs121913103
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000251.3(MSH2):c.1510+2T>C rs1060502023
NM_000275.3(OCA2):c.131del (p.Gly44fs) rs780625433
NM_000278.5(PAX2):c.226G>A (p.Gly76Ser) rs79555199
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe) rs755799702
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.-34C>T rs756314710
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.4(CFTR):c.1209G>A (p.Glu403=) rs397508177
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1392+1G>A rs397508197
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly) rs397508226
NM_000492.4(CFTR):c.164+2dup rs1554375870
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe) rs397508286
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.1766+2T>C rs1554389062
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala) rs1554389290
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter) rs397508333
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile) rs1584813846
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile) rs151048781
NM_000492.4(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del) rs1562914072
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser) rs397508488
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp) rs397508523
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.346G>C (p.Glu116Gln) rs397508571
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro) rs78655421
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.3718-3T>G rs397508596
NM_000492.4(CFTR):c.386T>G (p.Leu129Arg) rs1162745955
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp) rs397508700
NM_000492.4(CFTR):c.4243-7del rs878854021
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.4(CFTR):c.53+2T>C rs2484929014
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.4(CFTR):c.870-1113_870-1110del rs397508809
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro) rs111033552
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000527.5(LDLR):c.2389+1G>T rs879255186
NM_000546.6(TP53):c.482_487del (p.Ala161_Tyr163delinsAsp) rs2073376974
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val) rs764725850
NM_000548.5(TSC2):c.4822T>A (p.Tyr1608Asn) rs878854111
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5297C>T (p.Pro1766Leu) rs748936673
NM_000548.5(TSC2):c.96G>A (p.Glu32=) rs1567380772
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_001009944.3(PKD1):c.8224G>A (p.Glu2742Lys) rs202159463
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001013703.4(EIF2AK4):c.1392del (p.Arg465fs) rs587777102
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly) rs796053359
NM_001042492.3(NF1):c.3544G>C (p.Val1182Leu) rs1555615027
NM_001042492.3(NF1):c.389A>G (p.His130Arg) rs876660277
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu) rs150543946
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del) rs750862009
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001142569.3(INAVA):c.743A>T (p.Tyr248Phe) rs41313912
NM_001270974.2(HYDIN):c.9352G>C (p.Val3118Leu)
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr) rs121917834
NM_001317778.2(SFTPC):c.548G>A (p.Cys183Tyr) rs1827914094
NM_001355436.2(SPTB):c.189G>A (p.Trp63Ter) rs2503227366
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_001367549.1(ATP13A3):c.2227C>T (p.Arg743Cys) rs2108829926
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs) rs761695866
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) rs2066845
NM_001378454.1(ALMS1):c.1941del (p.Val648fs) rs1671852270
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs) rs863225175
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp) rs104893637
NM_002522.4(NPTX1):c.428G>T (p.Arg143Leu) rs2509780141
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly) rs2125436754
NM_003334.4(UBA1):c.121A>G (p.Met41Val) rs1936307795
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004972.4(JAK2):c.2662A>T (p.Thr888Ser) rs1426814242
NM_005267.5(GJA8):c.601G>A (p.Glu201Lys) rs2524891883
NM_006060.6(IKZF1):c.548G>A (p.Arg183His) rs1812172495
NM_006494.4(ERF):c.891_892del (p.Gly299fs) rs587777007
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys) rs2147938135
NM_014915.3(ANKRD26):c.-118C>T rs1589393759
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg) rs387906633
NM_033124.5(DRC2):c.877_878del (p.Ile293fs) rs863223325
NM_139276.3(STAT3):c.1004G>A (p.Arg335Gln) rs776115471
NM_145038.5(DRC1):c.109dup (p.Gln37fs) rs750136163
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys) rs80356533
NM_174936.4(PCSK9):c.1496G>A (p.Arg499His) rs143394031
NM_181426.2(CCDC39):c.2507_2508del (p.Lys836fs) rs781526810
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571

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