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:
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
641 388 3 211 81 5 97 329

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 established risk allele likely risk allele pathogenic, low penetrance risk factor
pathogenic 2 95 15 0 0 0 0 0 1 2
likely pathogenic 58 1 50 3 3 0 0 1 0 0
uncertain significance 17 18 0 18 10 1 1 0 0 1
likely benign 2 1 40 0 37 0 0 0 0 0
benign 1 0 14 21 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 105
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 0 283 0 38 22 2 33 95
Counsyl 0 54 0 32 7 0 22 61
Ambry Genetics 0 161 0 18 10 0 18 46
Genome-Nilou Lab 0 93 0 22 12 0 12 46
Illumina Laboratory Services, Illumina 0 67 0 16 19 0 7 42
Mendelics 0 86 0 15 5 0 10 30
Institute of Human Genetics, University of Leipzig Medical Center 0 57 0 14 10 0 5 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 132 0 23 2 0 1 26
OMIM 0 112 0 13 1 2 8 24
Baylor Genetics 0 69 0 11 2 0 2 15
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 22 0 2 3 0 6 11
Revvity Omics, Revvity 0 36 0 6 4 0 1 11
Natera, Inc. 0 67 0 3 6 0 2 11
CFTR-France 0 80 0 9 0 0 0 9
Myriad Genetics, Inc. 0 59 0 8 1 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 16 0 3 2 0 4 9
MGZ Medical Genetics Center 0 25 0 5 2 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 26 0 6 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 49 0 5 0 0 1 6
Genetics and Molecular Pathology, SA Pathology 0 18 0 2 2 0 2 6
Genomics England Pilot Project, Genomics England 0 3 0 6 0 0 0 6
GeneDx 0 8 0 3 2 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 12 0 4 0 0 1 5
CFTR2 0 102 0 2 2 0 0 4
SIB Swiss Institute of Bioinformatics 0 4 0 2 2 0 0 4
3billion 0 17 0 3 0 0 1 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 14 0 2 0 0 2 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 11 0 1 0 0 2 3
Eurofins Ntd Llc (ga) 0 4 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 25 0 1 0 0 2 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 2 0 0 1 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 3 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 1 2 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 11 0 3 0 0 0 3
DASA 0 9 0 3 0 0 0 3
All of Us Research Program, National Institutes of Health 0 20 0 1 0 0 2 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 14 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 2 0 0 1 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 18 0 1 0 0 1 2
Centogene AG - the Rare Disease Company 0 7 0 2 0 0 0 2
GeneReviews 0 48 2 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 7 0 1 0 1 0 2
UCLA Clinical Genomics Center, UCLA 0 0 0 2 0 0 0 2
CSER _CC_NCGL, University of Washington 0 3 0 0 1 0 1 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 11 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 4 0 0 2 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 7 0 2 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 4 0 1 0 0 1 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 3 0 0 2 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 7 0 1 1 0 0 2
Pars Genome Lab 0 1 0 0 2 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 5 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 20 0 0 1 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 3 0 0 0 0 1 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 0 1 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 41 0 1 0 0 0 1
Blueprint Genetics 0 0 0 0 0 0 1 1
LDLR-LOVD, British Heart Foundation 0 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 10 0 1 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 0 0 0 1 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 11 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 8 0 0 1 0 0 1
UW Hindbrain Malformation Research Program, University of Washington 0 1 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 7 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 4 0 0 1 0 0 1
Database of Curated Mutations (DoCM) 0 0 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
Robarts Research Institute, Western University 0 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 5 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 3 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 5 0 1 0 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 0 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 2 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 5 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 0 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 4 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
ClinGen TP53 Variant Curation Expert Panel, ClinGen 0 1 0 0 0 0 1 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 3 0 0 1 0 0 1
New York Genome Center 0 9 0 0 0 1 0 1
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Lifecell International Pvt. Ltd 0 1 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 19 0 1 0 0 0 1
Clinical Genomics Labs, University Health Network 0 2 0 0 0 0 1 1
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center 0 1 0 0 0 1 0 1
Laboratory of Hematology, Radboud University Medical Center 0 1 0 1 0 0 0 1
Arcensus 0 2 0 1 0 0 0 1
Dunham Lab, University of Washington 0 2 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 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: 329
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
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 0.01450
NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=) rs35082161 0.00953
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610 0.00947
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613 0.00946
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_001317778.2(SFTPC):c.43-7G>A rs79440568 0.00861
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser) rs34962745 0.00699
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
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_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln) rs34957318 0.00444
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_001089.3(ABCA3):c.1869C>T (p.Val623=) rs145502164 0.00403
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 0.00377
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880 0.00334
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln) rs143192349 0.00328
NM_002890.3(RASA1):c.304G>T (p.Val102Leu) rs115606026 0.00315
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg) rs149578279 0.00256
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_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) rs148671332 0.00172
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=) rs143552557 0.00160
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539 0.00160
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_153614.4(DNAJB13):c.757G>A (p.Asp253Asn) rs140556652 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_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448 0.00132
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_001089.3(ABCA3):c.393C>T (p.Ala131=) rs145383120 0.00106
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055 0.00088
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_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445 0.00074
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
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_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 0.00048
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 0.00046
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00046
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
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_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val) rs201685063 0.00042
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr) rs140311741 0.00039
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_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00037
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_017654.4(SAMD9):c.1058C>T (p.Thr353Met) rs138478808 0.00034
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp) rs55948916 0.00026
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) rs145251229 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 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_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 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_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
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_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly) rs377386505 0.00013
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_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr) rs200039720 0.00011
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 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_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 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_001089.3(ABCA3):c.3207C>T (p.His1069=) rs151260964 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_000053.4(ATP7B):c.2731-2A>G rs367956522 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_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_001006658.3(CR2):c.658C>T (p.Arg220Ter) rs141472681 0.00006
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs) rs1194089098 0.00006
NM_144997.7(FLCN):c.1274A>G (p.Gln425Arg) rs786203348 0.00006
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter) rs201707868 0.00006
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000492.4(CFTR):c.1679+9C>G rs775440240 0.00004
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) rs397508293 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 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_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln) rs781326398 0.00004
NM_017780.4(CHD7):c.521C>T (p.Pro174Leu) rs767279224 0.00004
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu) rs772379819 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.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000548.5(TSC2):c.3542C>T (p.Thr1181Met) rs373481458 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_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.490-1G>A rs397508734 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_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_006929.5(SKIC2):c.757C>T (p.Arg253Ter) rs768503878 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_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000478.6(ALPL):c.1182dup (p.Ile395fs) rs754826836 0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017 0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680 0.00001
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr) rs397508222 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 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.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser) rs397508488 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser) rs397508692 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.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_001134363.3(RBM20):c.2149C>A (p.Gln717Lys) rs551819918 0.00001
NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter) rs377691013 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_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
G6PD NARA rs587776730
NC_012920.1:m.3243A>G rs199474657
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.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.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.892G>A (p.Gly298Ser) rs1603232243
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly) rs1557053241
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
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_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
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_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
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.1175T>G (p.Val392Gly) rs397508170
NM_000492.4(CFTR):c.1209G>A (p.Glu403=) rs397508177
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1392+1G>A rs397508197
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
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.2562_2563delinsGA (p.Val855Ile) rs1584813846
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.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.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
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.3854C>T (p.Ala1285Val) rs397508617
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.484A>G (p.Lys162Glu) rs397508731
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro) rs111033552
NM_000546.6(TP53):c.482_487del (p.Ala161_Tyr163delinsAsp) rs2073376974
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val) rs764725850
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_001013703.4(EIF2AK4):c.1392del (p.Arg465fs) rs587777102
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly) rs796053359
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_001317778.2(SFTPC):c.548G>A (p.Cys183Tyr) rs1827914094
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_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_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_005518.4(HMGCS2):c.726C>G (p.Tyr242Ter) rs145838142
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_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_145038.5(DRC1):c.109dup (p.Gln37fs) rs750136163
NM_172351.3(CD46):c.944-1G>C
NM_174936.4(PCSK9):c.1496G>A (p.Arg499His) rs143394031

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