ClinVar Miner

Variants from Centogene AG - the Rare Disease Company with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Centogene AG - the Rare Disease Company: Collection method of the submission from Centogene AG - the Rare Disease Company:
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
717 247 2 185 20 6 64 248

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Centogene AG - the Rare Disease Company pathogenic likely pathogenic uncertain significance likely benign benign affects pathogenic, low penetrance other
pathogenic 1 119 24 2 2 1 3 2
likely pathogenic 65 1 18 0 0 0 0 0
uncertain significance 16 10 0 18 6 0 0 0
benign 1 0 1 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 131
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 0 157 0 27 14 3 16 60
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 34 0 26 0 0 3 29
Counsyl 0 25 0 20 0 0 6 26
OMIM 0 136 0 11 0 3 10 24
Baylor Genetics 0 105 0 20 0 0 4 24
Genome-Nilou Lab 0 37 0 17 2 0 3 22
Revvity Omics, Revvity 0 56 0 19 0 0 1 20
Institute of Human Genetics, University of Leipzig Medical Center 0 45 0 7 0 0 6 13
Fulgent Genetics, Fulgent Genetics 0 62 0 12 0 0 0 12
Natera, Inc. 0 57 0 5 2 0 4 11
Mendelics 0 34 0 4 0 0 7 11
Illumina Laboratory Services, Illumina 0 54 0 3 4 0 4 11
3billion 0 59 0 8 0 0 2 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 76 0 9 0 0 0 9
MGZ Medical Genetics Center 0 21 0 7 0 0 1 8
Myriad Genetics, Inc. 0 41 0 7 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 39 0 6 0 0 1 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 10 0 5 0 0 1 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 15 0 4 0 0 2 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 10 0 4 0 0 1 5
SIB Swiss Institute of Bioinformatics 0 2 0 4 0 0 1 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 29 0 3 0 0 2 5
Lifecell International Pvt. Ltd 0 10 0 5 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 25 0 4 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 31 0 3 0 0 1 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 42 0 3 0 0 1 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 31 0 4 0 0 0 4
UCLA Clinical Genomics Center, UCLA 0 1 0 4 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 32 0 4 0 0 0 4
Genomics England Pilot Project, Genomics England 0 5 0 4 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 8 0 3 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 2 0 0 1 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 11 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 15 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 17 0 3 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 0 2 0 3 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 3 0 2 0 0 1 3
Molecular Genetics, Royal Melbourne Hospital 0 7 0 2 0 0 1 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 7 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 13 0 1 1 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 2 0 2 0 0 0 2
Ambry Genetics 0 3 0 1 0 0 1 2
LDLR-LOVD, British Heart Foundation 0 0 0 1 0 0 1 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 10 0 1 0 0 1 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 10 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 3 0 1 0 0 1 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 2 0 0 0 0 2 2
ClinGen PAH Variant Curation Expert Panel 0 4 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 7 0 2 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 1 0 2 0 0 0 2
DASA 0 18 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 4 0 2 0 0 0 2
Dunham Lab, University of Washington 0 2 0 1 0 0 1 2
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 0 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 19 0 1 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 7 0 1 0 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 3 0 0 0 0 1 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 0 0 0 0 1 1
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine 0 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 3 0 0 0 0 1 1
PreventionGenetics, part of Exact Sciences 0 1 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 0 0 0 0 1 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 1 0 0 0 1
Sharing Clinical Reports Project (SCRP) 0 1 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 3 0 1 0 0 0 1
GeneReviews 0 73 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 5 0 1 0 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 1 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 0 1
Blueprint Genetics 0 5 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 2 0 1 0 0 0 1
Department of Genetics, Robert DEBRE University Hospital 0 0 0 1 0 0 0 1
Rademakers Lab, Mayo Clinic 0 0 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 1 0 0 0 0 1 1
CHU Sainte-Justine Research Center, University of Montreal 0 0 0 1 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 0 0 1 0 0 0 1
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 12 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 22 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 1 0 0 0 1
Medical Genetics, University of Parma 0 0 0 0 0 0 1 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 4 0 0 0 0 1 1
Neurogenetics Laboratory, GH Pitie Salpetriere APHP 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 1 0 0 0 1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 0 0 0 0 1 1
CeGaT Center for Human Genetics Tuebingen 0 2 0 1 0 0 0 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 0 1 0 0 0 1
Robarts Research Institute, Western University 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 17 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 1 0 0 0 0 1 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 7 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 9 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 5 0 1 0 0 0 1
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 1 0 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 0 0 0 1 0 0 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 0 0 0 1 0 0 0 1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 0 0 0 1 0 0 0 1
Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University 0 0 0 1 0 0 0 1
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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 7 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
Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai 0 0 0 1 0 0 0 1
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 1 0 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 2 0 0 0 0 1 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 0 0 1 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 4 0 0 0 0 1 1
Suma Genomics 0 7 0 0 0 0 1 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 0 0 0 0 0 1 1
Eurofins-Biomnis 0 2 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 19 0 1 0 0 0 1
Arcensus 0 2 0 1 0 0 0 1
Giacomini Lab, University of California, San Francisco 0 2 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 248
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.56024
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_033419.5(PGAP3):c.*559C>T rs183208638 0.00300
NM_000484.3(APP):c.-626C>T rs139885956 0.00230
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys) rs141868117 0.00150
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr) rs202195978 0.00088
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) rs120074114 0.00071
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440 0.00035
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala) rs143041875 0.00032
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln) rs72546338 0.00021
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00014
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00010
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val) rs374315921 0.00007
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs) rs776790336 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu) rs72549304 0.00004
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) rs769967565 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn) rs368641951 0.00004
NM_004268.5(MED17):c.1597C>T (p.Gln533Ter) rs752341132 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) rs373885282 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_001041.4(SI):c.2401G>T (p.Glu801Ter) rs200972419 0.00003
NM_001126108.2(SLC12A3):c.1670-191C>T rs374182921 0.00003
NM_003265.3(TLR3):c.2599C>T (p.Arg867Ter) rs745646456 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387 0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_001083116.3(PRF1):c.921del (p.His308fs) rs777345151 0.00002
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335 0.00002
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp) rs766285158 0.00002
NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys) rs367909007 0.00002
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys) rs779440632 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220 0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000318.3(PEX2):c.-17-2A>G rs1289852067 0.00001
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777 0.00001
NM_000548.5(TSC2):c.2701C>T (p.Arg901Cys) rs796053512 0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) rs41270025 0.00001
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe) rs121918801 0.00001
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter) rs769501930 0.00001
NM_001277115.2(DNAH11):c.6565C>T (p.Arg2189Ter) rs778698443 0.00001
NM_002225.5(IVD):c.890C>T (p.Ala297Val) rs796051983 0.00001
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) rs746136135 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter) rs387907106 0.00001
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter) rs376075583 0.00001
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp) rs864622269 0.00001
NM_016035.5(COQ4):c.458C>T (p.Ala153Val) rs757173567 0.00001
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp) rs564185858 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_144687.4(NLRP12):c.2360dup (p.Met787fs) rs768447330 0.00001
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020 0.00001
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser) rs398123088
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.3503dup (p.Cys1168fs) rs2082209411
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) rs376910645
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn) rs80358863
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter) rs867425110
NM_000088.4(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter) rs1433065763
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys) rs2132747882
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000169.3(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000237.3(LPL):c.784C>T (p.Gln262Ter) rs1297688787
NM_000249.4(MLH1):c.1528_1532delinsACTAGTTTG (p.Gln510fs) rs2083718945
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073
NM_000264.5(PTCH1):c.3921del (p.Arg1308fs)
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter) rs774602107
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter) rs772912966
NM_000310.4(PPT1):c.398del (p.Met133fs) rs386833644
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000321.3(RB1):c.373G>T (p.Glu125Ter) rs1952457111
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe) rs766317920
NM_000374.5(UROD):c.995G>A (p.Arg332His) rs121918066
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.498C>G (p.His166Gln) rs1301198698
NM_000528.4(MAN2B1):c.2356-2A>G rs1064793936
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr) rs752029455
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln) rs397514668
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001009944.3(PKD1):c.7065+1G>A rs2151783532
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp) rs1435160117
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs) rs587776895
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del) rs1432360280
NM_001171613.2(PREPL):c.1366C>T (p.Gln456Ter) rs1673549822
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter) rs863224886
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs) rs1064796367
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs) rs1779004027
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys) rs786205153
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys) rs138008832
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) rs1223645705
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003482.4(KMT2D):c.8032G>C (p.Glu2678Gln)
NM_003504.5(CDC45):c.333C>T (p.Asn111=) rs748749078
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro) rs867525294
NM_003742.4(ABCB11):c.908+1G>C rs147649016
NM_004006.3(DMD):c.1283del (p.Asn428fs) rs2059643357
NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer) rs1830379007
NM_004817.4(TJP2):c.239+1G>A rs749237210
NM_005807.6(PRG4):c.2247del (p.Ala750fs) rs1656851989
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs) rs769917456
NM_006767.4(LZTR1):c.1373dup (p.His459fs) rs1924703709
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006984.5(CLDN10):c.653del (p.Pro218fs) rs2043960821
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter) rs2151730563
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln) rs1057519947
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu) rs141028076
NM_014362.4(HIBCH):c.386-1G>C rs1203170244
NM_014714.4(IFT140):c.1525-1G>A rs2034013225
NM_014795.4(ZEB2):c.876dup (p.Tyr293fs) rs2149877962
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys) rs2137290227
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter) rs749597091
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020320.5(RARS2):c.1A>T (p.Met1Leu) rs774923951
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020680.4(SCYL1):c.1386+1G>T rs201581270
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn) rs1057521927
NM_022370.4(ROBO3):c.767-1G>A rs1946261580
NM_025137.4(SPG11):c.6437_6438del (p.Thr2146fs) rs2082401685
NM_031307.4(PUS3):c.1181_1182del (p.Ser394fs) rs753229591
NM_031443.4(CCM2):c.472+1G>C rs745710633
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser) rs560867570
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu) rs201623252
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter) rs1565019928
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
UGT1A1*28 rs3064744

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