ClinVar Miner

Variants from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics with conflicting interpretations

Location: India  Primary collection method: clinical testing
Minimum review status of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics: Collection method of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics:
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
779 222 0 212 15 5 96 294

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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics pathogenic likely pathogenic uncertain significance likely benign benign affects
pathogenic 0 129 17 1 3 4
likely pathogenic 83 0 43 4 2 1
uncertain significance 20 21 0 9 7 0

Submitter to submitter summary #

Total submitters: 142
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 0 153 0 40 8 0 31 79
Counsyl 0 34 0 33 0 0 12 45
Neuberg Centre For Genomic Medicine, NCGM 0 86 0 26 0 0 12 38
Natera, Inc. 0 93 0 26 0 0 8 34
Baylor Genetics 0 73 0 28 0 0 4 32
OMIM 0 75 0 23 0 0 7 30
Fulgent Genetics, Fulgent Genetics 0 51 0 22 0 0 6 28
3billion 0 46 0 19 0 0 8 27
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 19 0 15 0 0 8 23
Genome-Nilou Lab 0 45 0 17 1 0 4 22
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 74 0 18 0 0 4 22
Myriad Genetics, Inc. 0 34 0 12 4 0 3 19
Revvity Omics, Revvity 0 46 0 13 1 0 3 17
Illumina Laboratory Services, Illumina 0 18 0 4 3 0 7 14
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 24 0 10 0 0 3 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 32 0 9 0 0 4 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 17 0 5 0 0 7 12
Institute of Human Genetics, University of Leipzig Medical Center 0 20 0 5 1 0 5 11
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 10 0 5 0 0 2 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 15 0 5 0 0 2 7
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 6 0 4 0 0 3 7
MGZ Medical Genetics Center 0 9 0 2 0 0 5 7
Variantyx, Inc. 0 9 0 6 0 0 1 7
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 12 0 5 0 0 1 6
Mendelics 0 15 0 3 0 0 3 6
Department of Human Genetics, Hannover Medical School 0 6 0 4 0 0 1 5
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 5 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 0 3 0 0 1 4
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 5 0 4 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 18 0 3 0 0 1 4
Institute of Human Genetics Munich, TUM University Hospital 0 12 0 2 0 0 2 4
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 4 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 2 0 0 0 0 4 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 0 3 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 10 0 3 0 0 0 3
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 2 0 0 1 3
Genomic Medicine Lab, University of California San Francisco 0 1 0 1 0 0 2 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 5 0 3 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 4 0 2 0 0 1 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 11 0 1 0 0 2 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 11 0 2 0 0 1 3
Reproductive Health Research and Development, BGI Genomics 0 3 0 1 0 0 2 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 6 0 1 1 0 0 2
All of Us Research Program, National Institutes of Health 0 7 0 1 0 0 1 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 1 0 0 1 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 0 0 0 2 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 0 2 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 0 0 0 2 2
Color Diagnostics, LLC DBA Color Health 0 4 0 0 0 0 2 2
Department of Genetics, Sultan Qaboos University Hospital 0 4 0 1 0 0 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 6 0 2 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 2 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 5 0 2 0 0 0 2
Genomenon, Inc, Genomenon, Inc 0 1 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 1 0 0 1 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 9 0 1 0 0 1 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 1 0 0 1 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 7 0 2 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 3 0 2 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 3 0 1 0 0 1 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 6 0 1 0 0 1 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 12 0 1 0 0 1 2
Lifecell International Pvt. Ltd 0 8 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 1 2
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 2 0 1 0 0 1 2
New York Genome Center 0 2 0 1 0 0 1 2
OLLIN Analises Genomicas, OLLIN 0 1 0 1 0 0 1 2
Suma Genomics 0 4 0 1 0 0 1 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 1 0 0 1 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 0 1 0 0 1 2
Arcensus 0 2 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 1 0 0 0 1
Biochemistry Department, Nishtar Medical University 0 0 0 1 0 0 0 1
Biotechnology, Institute of Science, Nirma University 0 2 0 0 0 0 1 1
Blueprint Genetics 0 0 0 0 0 0 1 1
Breakthrough Genomics, Breakthrough Genomics 0 5 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 2 0 1 0 0 0 1
Cancer Diagnostics Division, Gene Solutions 0 0 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1 1
Center of Human Genetics, Hôpital Erasme 0 2 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 3 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 5 0 0 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 2 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 1 0 1 0 0 0 1
Dan Cohn Lab, University Of California Los Angeles 0 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 3 0 1 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 0 0 0 0 0 1 1
Department of Clinical Genetics, Aarhus University Hospital 0 0 0 1 0 0 0 1
Department of Genetics, Robert DEBRE University Hospital 0 0 0 1 0 0 0 1
Department of Internal Medicine, University of Texas Health Science Center at Houston 0 0 0 0 0 0 1 1
Department of Molecular Genetics, Istishari Arab Hospital 0 3 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 3 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 7 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 0 0 0 0 1 1
Dunham Lab, University of Washington 0 1 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 2 0 1 0 0 0 1
GeneDx 0 1 0 0 0 0 1 1
GeneReviews 0 46 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 1 0 0 0 0 1 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 0 1
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 0 7 0 0 0 0 1 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 5 0 0 0 0 1 1
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 0 0 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 0 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 1 0 0 0 1
IIFP, CONICET-UNLP 0 3 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 1 0 1 0 0 0 1
Institute of Experimental Endocrinology, Slovak Academy of Sciences 0 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 6 0 1 0 0 0 1
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 0 0 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 0 1 0 0 0 1
King Laboratory, University of Washington 0 0 0 1 0 0 0 1
LDLR-LOVD, British Heart Foundation 0 0 0 0 0 0 1 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 0 0 0 0 0 1 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 1 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 2 0 0 1 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
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 0 1 0 0 0 1
Next Generation Genetic Polyclinic 0 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 0 1 0 0 0 1
Paris Brain Institute, Inserm - ICM 0 1 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 3 0 1 0 0 0 1
Sadaf Naz Human Genetics Laboratory, University of the Punjab 0 0 0 0 0 0 1 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 0 0 1 0 0 0 1
Sharing Clinical Reports Project (SCRP) 0 2 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 1 0 0 0 1
Solve-RD Consortium 0 0 0 1 0 0 0 1
Synevo Romania 0 0 0 0 0 0 1 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 0 0 0 1 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 294
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.73+9277T>C rs2435357 0.79636
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02566
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01231
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00829
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213 0.00591
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00380
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00151
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00121
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00093
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00065
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp) rs149636063 0.00032
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00030
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00027
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) rs149102421 0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00019
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter) rs372754256 0.00015
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His) rs147852216 0.00010
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) rs56010818 0.00008
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His) rs369091875 0.00008
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283 0.00007
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166 0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891 0.00005
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter) rs201707868 0.00005
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_001414.4(EIF2B1):c.439C>T (p.Arg147Ter) rs370678173 0.00004
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) rs758746181 0.00004
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00003
NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg) rs755505546 0.00003
NM_002778.4(PSAP):c.679_681del (p.Lys227del) rs1431844269 0.00003
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) rs574132670 0.00003
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645 0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953 0.00002
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00002
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_001003841.3(SLC6A19):c.284G>A (p.Arg95Gln) rs201936518 0.00002
NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr) rs556875684 0.00002
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met) rs747082651 0.00002
NM_014946.4(SPAST):c.631G>A (p.Val211Ile) rs143003434 0.00002
NM_020632.3(ATP6V0A4):c.1345C>T (p.Arg449Cys) rs370861594 0.00002
NM_000018.4(ACADVL):c.1054A>G (p.Met352Val) rs2071296420 0.00001
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326 0.00001
NM_000038.6(APC):c.2527A>G (p.Ser843Gly) rs536223189 0.00001
NM_000051.4(ATM):c.590G>A (p.Gly197Glu) rs753806542 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_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter) rs746053763 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys) rs747506979 0.00001
NM_000163.5(GHR):c.618+792A>G rs1011727375 0.00001
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr) rs760106433 0.00001
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000202.8(IDS):c.748G>A (p.Ala250Thr) rs782613338 0.00001
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027 0.00001
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00001
NM_000251.3(MSH2):c.274C>G (p.Leu92Val) rs587779154 0.00001
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260 0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962 0.00001
NM_000340.2(SLC2A2):c.775+1G>A rs756874949 0.00001
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742 0.00001
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter) rs199476373 0.00001
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00001
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg) rs1478665723 0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn) rs753051547 0.00001
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn) rs759157781 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977 0.00001
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter) rs138914144 0.00001
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_000548.5(TSC2):c.5092A>C (p.Ser1698Arg) rs1397179937 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_001006658.3(CR2):c.1613A>G (p.His538Arg) rs763755514 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00001
NM_001077350.3(NPRL3):c.1162-2A>G rs756257487 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654 0.00001
NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter) rs587777743 0.00001
NM_001142800.2(EYS):c.1185-6T>G rs565046666 0.00001
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser) rs367567630 0.00001
NM_001378454.1(ALMS1):c.4544del (p.Ala1515fs) rs745461983 0.00001
NM_002292.4(LAMB2):c.467G>A (p.Arg156His) rs1378409559 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_005198.5(CHKB):c.940C>T (p.Arg314Cys) rs200919604 0.00001
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514 0.00001
NM_006623.4(PHGDH):c.357-1G>A rs766427173 0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_014009.4(FOXP3):c.361C>T (p.His121Tyr) rs782640594 0.00001
NM_014795.4(ZEB2):c.385G>A (p.Ala129Thr) rs730881187 0.00001
NM_016156.6(MTMR2):c.304C>T (p.Arg102Ter) rs115506357 0.00001
NM_017671.5(FERMT1):c.1718+2T>C rs760256639 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys) rs769587233 0.00001
NM_024884.3(L2HGDH):c.256+1G>A rs150299874 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_198239.2(CCN6):c.49-1G>A rs781864926 0.00001
NM_206933.4(USH2A):c.5083del (p.Ser1695fs) rs1553300016 0.00001
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000046.5(ARSB):c.1178A>G (p.His393Arg) rs118203944
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn) rs1554032217
NM_000046.5(ARSB):c.160G>A (p.Asp54Asn) rs1554032216
NM_000046.5(ARSB):c.352_365dup (p.Pro123fs) rs2530607480
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000046.5(ARSB):c.982G>A (p.Gly328Arg) rs748454316
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg) rs104894548
NM_000051.4(ATM):c.6082del (p.Gln2028fs) rs1565499093
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000088.4(COL1A1):c.578dup (p.Gly194fs) rs1598300304
NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met) rs1339426358
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro) rs2143866454
NM_000152.5(GAA):c.1819_1836del (p.Gly607_His612del) rs1555601409
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg) rs1327361418
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.2122del (p.His708fs) rs2510386542
NM_000152.5(GAA):c.794G>A (p.Ser265Asn) rs772002851
NM_000152.5(GAA):c.844G>C (p.Asp282His) rs1264889089
NM_000153.4(GALC):c.1717dup (p.Thr573fs) rs2503340945
NM_000153.4(GALC):c.1835-1G>A rs1555378562
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) rs1057516453
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000159.4(GCDH):c.1207C>T (p.His403Tyr) rs1599619080
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp) rs756345321
NM_000159.4(GCDH):c.881G>C (p.Arg294Pro) rs775606471
NM_000169.3(GLA):c.512G>A (p.Gly171Asp) rs2520895216
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg) rs1434209913
NM_000199.5(SGSH):c.1130G>A (p.Arg377His) rs746037899
NM_000199.5(SGSH):c.822C>G (p.Asn274Lys)
NM_000202.8(IDS):c.1006+1G>A rs869025308
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.134A>G (p.Asp45Gly) rs2520901934
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.692C>G (p.Pro231Arg) rs2089450305
NM_000202.8(IDS):c.908C>T (p.Ser303Phe) rs2124020665
NM_000249.4(MLH1):c.200G>T (p.Gly67Val) rs63749939
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro) rs63750266
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp) rs2092906798
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000292.3(PHKA2):c.884G>A (p.Arg295His) rs797044877
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs) rs772390221
NM_000310.4(PPT1):c.532del (p.Glu178fs) rs878853325
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu) rs878853322
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg) rs863223405
NM_000380.4(XPA):c.648_649del (p.Lys217fs) rs1057519018
NM_000391.4(TPP1):c.130G>T (p.Glu44Ter) rs2134598107
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro) rs752177002
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.65_75+1del rs1382394474
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) rs1554615511
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro) rs1910973930
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly) rs1967935882
NM_000512.5(GALNS):c.121-7C>G rs1004936255
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu) rs746949976
NM_000512.5(GALNS):c.423G>T (p.Trp141Cys) rs2143002473
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser) rs747805226
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del) rs1389218771
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg) rs556060696
NM_000520.6(HEXA):c.1349del (p.Ala450fs) rs1057519466
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) rs1057519468
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) rs748190164
NM_000520.6(HEXA):c.637T>C (p.Tyr213His) rs1057519461
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter) rs761117459
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.948C>G (p.Asn316Lys) rs780673258
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000546.6(TP53):c.473G>T (p.Arg158Leu) rs587782144
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000660.7(TGFB1):c.653G>A (p.Arg218His) rs104894720
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001042492.3(NF1):c.2761G>A (p.Val921Met) rs567023433
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001101.5(ACTB):c.193C>T (p.Leu65Phe) rs281875332
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr) rs886037945
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp) rs1131692158
NM_001161.5(NUDT2):c.407AAG[1] (p.Glu137del) rs1355517127
NM_001165963.4(SCN1A):c.602+1G>A rs794726827
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg) rs773780151
NM_001276345.2(TNNT2):c.268C>A (p.Pro90Thr) rs397516451
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002615.7(SERPINF1):c.826TTC[1] (p.Phe277del) rs773952734
NM_003172.4(SURF1):c.324-11T>G rs375398247
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter) rs128626249
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004646.4(NPHS1):c.2206G>A (p.Val736Met) rs1131692245
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser) rs749643952
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln) rs193922922
NM_015114.3(ANKLE2):c.601G>T (p.Gly201Trp) rs1185537869
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_015981.4(CAMK2A):c.884C>A (p.Ala295Asp) rs2532310162
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_017534.6(MYH2):c.4352del (p.Lys1451fs) rs757195322
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs) rs137853953
NM_024306.5(FA2H):c.1023T>A (p.Phe341Leu) rs2544311876
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs) rs281864996
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032520.5(GNPTG):c.190_193dup (p.Phe65fs) rs2141861740
NM_033305.3(VPS13A):c.555+1G>A rs1590003601
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_138694.4(PKHD1):c.11425G>A (p.Gly3809Ser) rs1363452328
NM_138694.4(PKHD1):c.1260del (p.Thr421fs) rs2533374401
NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys) rs1057516098
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser) rs397514568
NM_178170.3(NEK8):c.133C>T (p.Arg45Trp) rs1567759130

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.