ClinVar Miner

Variants from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India with conflicting interpretations

Location: India  Primary collection method: clinical testing
Minimum review status of the submission from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India: Collection method of the submission from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India:
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
662 196 1 180 2 4 68 227

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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India pathogenic likely pathogenic uncertain significance likely benign benign affects
pathogenic 1 95 16 0 1 2
likely pathogenic 86 0 34 2 0 2
uncertain significance 12 7 0 1 1 0

Submitter to submitter summary #

Total submitters: 119
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
OMIM 0 97 0 46 0 1 10 57
Labcorp Genetics (formerly Invitae), Labcorp 0 86 0 34 1 0 16 51
Neuberg Centre For Genomic Medicine, NCGM 0 45 0 18 0 0 12 30
Baylor Genetics 0 46 0 20 0 0 3 23
Revvity Omics, Revvity 0 32 0 13 0 0 7 20
Counsyl 0 14 0 15 0 0 5 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 43 0 17 0 0 1 18
Natera, Inc. 0 20 0 11 0 0 2 13
3billion 0 43 0 9 0 0 3 12
Genome-Nilou Lab 0 22 0 7 0 0 4 11
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 22 0 10 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 33 0 9 0 0 0 9
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 7 0 5 0 0 4 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 5 0 5 0 0 3 8
Myriad Genetics, Inc. 0 15 0 7 0 0 1 8
Lifecell International Pvt. Ltd 0 12 0 6 0 0 2 8
Mendelics 0 13 0 5 0 0 2 7
Fulgent Genetics, Fulgent Genetics 0 21 0 6 0 0 1 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 15 0 7 0 0 0 7
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 5 0 0 1 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 14 0 4 0 0 2 6
Illumina Laboratory Services, Illumina 0 13 0 2 1 0 3 6
Institute of Human Genetics, University of Leipzig Medical Center 0 26 0 6 0 0 0 6
Genetic Services Laboratory, University of Chicago 0 21 0 5 0 0 0 5
GeneReviews 0 40 1 4 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 14 0 4 0 0 0 4
Suma Genomics 0 13 0 2 0 0 2 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 2 0 0 1 3
Centogene AG - the Rare Disease Company 0 11 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 0 3 0 0 0 3
Centre for Human Genetics 0 2 0 3 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 2 0 0 1 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 12 0 2 0 0 1 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 5 0 3 0 0 0 3
Undiagnosed Diseases Network, NIH 0 5 0 3 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 10 0 3 0 0 0 3
Pediatrics, All India Institute of Medical Sciences, New Delhi 0 0 0 0 0 3 0 3
Genomics England Pilot Project, Genomics England 0 3 0 3 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 3 0 2 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 3 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 6 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 4 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 1 0 0 1 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 4 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 4 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 3 0 2 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 0 0 0 1 0 0 1 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 1 0 0 1 2
New York Genome Center 0 3 0 1 0 0 1 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 13 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 5 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 3 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1 1
Institute for Human Genetics, University Medical Center Freiburg 0 0 0 1 0 0 0 1
GeneDx 0 3 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 4 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 2 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 1 0 0 0 1
Intergen, 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 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 0 1 0 0 0 1
IIFP, CONICET-UNLP 0 1 0 1 0 0 0 1
LDLR-LOVD, British Heart Foundation 0 0 0 1 0 0 0 1
RettBASE 0 4 0 1 0 0 0 1
University Children's Hospital, University of Zurich 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
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 0 0 0 0 0 1 1
CeGaT Center for Human Genetics Tuebingen 0 4 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 11 0 1 0 0 0 1
Institute of Experimental Endocrinology, Slovak Academy of Sciences 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 0 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 5 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 0 0 1 0 0 0 1
Medgenome Labs Pvt Ltd 0 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 1 0 0 0 1
Institutes of Biomedical Sciences, Shanxi University 0 0 0 0 0 0 1 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 5 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 1 0 0 0 1
Genetics and Genomics, Alberta Children's Hospital 0 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 4 0 0 0 0 1 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 0 1 0 0 0 1
Breda Genetics srl 0 2 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 5 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 0 0 1 1
Department of Pediatrics, Gifu 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
deCODE genetics, Amgen 0 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 2 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 2 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 0 0 0 1 0 0 0 1
Medical Genetics, Christian Medical College 0 0 0 0 0 0 1 1
GenomeConnect - Simons Searchlight 0 2 0 1 0 0 0 1
DASA 0 5 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 3 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 1 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 0 0 0 1 0 0 0 1
Arcensus 0 2 0 0 0 0 1 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 4 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
Department of Pediatrics, Division of Pediatric Genetics, Necmettin Erbakan University Faculty of Medicine 0 0 0 1 0 0 0 1
Centre for Population Genomics, CPG 0 3 0 1 0 0 0 1
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 0 0 0 1 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 227
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) rs200426926 0.00020
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) rs758746181 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp) rs61733615 0.00005
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu) rs752509098 0.00005
NM_176806.4(MOCS2):c.45T>A (p.Ser15Arg) rs1554028127 0.00005
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) rs148393161 0.00004
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp) rs138249238 0.00004
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00004
NM_001414.4(EIF2B1):c.439C>T (p.Arg147Ter) rs370678173 0.00004
NM_001673.5(ASNS):c.1211G>A (p.Arg404His) rs774808316 0.00004
NM_003359.4(UGDH):c.131C>T (p.Ala44Val) rs749975104 0.00004
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile) rs622288 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_002778.4(PSAP):c.679_681del (p.Lys227del) rs1431844269 0.00003
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr) rs777578399 0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His) rs758539748 0.00003
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053 0.00002
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_001015880.2(PAPSS2):c.640-1G>C rs981095457 0.00002
NM_001182.5(ALDH7A1):c.1411_1412insG (p.Leu471fs) rs772766995 0.00002
NM_005630.3(SLCO2A1):c.547G>A (p.Gly183Arg) rs774038272 0.00002
NM_020365.5(EIF2B3):c.674G>A (p.Arg225Gln) rs113994024 0.00002
NM_152753.4(SCUBE3):c.2444T>C (p.Ile815Thr) rs751478115 0.00002
NM_181705.4(LYRM7):c.2T>C (p.Met1Thr) rs531275086 0.00002
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) rs753829097 0.00001
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596 0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749 0.00001
NM_000294.3(PHKG2):c.431T>C (p.Leu144Pro) rs1567261889 0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln) rs74315477 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg) rs1478665723 0.00001
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln) rs1199639828 0.00001
NM_001013838.3(CARMIL2):c.520C>T (p.Arg174Ter) rs758210528 0.00001
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs) rs1347618037 0.00001
NM_001358263.1(HK1):c.19C>T (p.Arg7Ter) rs779250530 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter) rs749593004 0.00001
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405 0.00001
NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter) rs1057519324 0.00001
NM_004569.5(PIGH):c.487C>T (p.Arg163Trp) rs370763975 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) rs763539350 0.00001
NM_006303.4(AIMP2):c.105C>A (p.Tyr35Ter) rs529613640 0.00001
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232 0.00001
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634 0.00001
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_016146.6(TRAPPC4):c.278C>T (p.Pro93Leu) rs1307746359 0.00001
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) rs193302864 0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) rs762972459 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) rs281865026 0.00001
NM_025233.7(COASY):c.1486-3C>G rs577714887 0.00001
NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu) rs201987973 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_178172.6(GPIHBP1):c.320C>G (p.Ser107Cys) rs587777643 0.00001
NM_000019.4(ACAT1):c.238+2T>A rs2135334862
NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter) rs2150593157
NM_000045.4(ARG1):c.428A>G (p.Gln143Arg) rs754259099
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000052.7(ATP7A):c.4085C>T (p.Ala1362Val) rs2149112273
NM_000053.4(ATP7B):c.1963del (p.Leu655fs) rs2139612433
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter) rs1749618632
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000138.5(FBN1):c.5917+1G>T rs363808
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000161.3(GCH1):c.644T>C (p.Met215Thr) rs2140038918
NM_000188.3(HK1):c.1252A>G (p.Lys418Glu) rs1564557037
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.305T>C (p.Leu102Pro) rs1557340261
NM_000243.3(MEFV):c.726C>A (p.Ser242Arg) rs104895127
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg) rs2152811823
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys) rs2053339231
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu) rs878853322
NM_000316.3(PTH1R):c.103G>A (p.Glu35Lys) rs1559532562
NM_000316.3(PTH1R):c.401A>C (p.Tyr134Ser) rs1575520937
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000380.4(XPA):c.428_429del (p.Glu143fs) rs1554701540
NM_000396.4(CTSK):c.568C>T (p.Gln190Ter) rs202040269
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro) rs752177002
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs) rs1784335277
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000487.6(ARSA):c.979+1G>A rs754722529
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser) rs2143002317
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp) rs2143001744
NM_000512.5(GALNS):c.95A>C (p.Asn32Thr) rs773933657
NM_000520.6(HEXA):c.1349del (p.Ala450fs) rs1057519466
NM_000527.5(LDLR):c.940+2T>C rs875989912
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000709.4(BCKDHA):c.1312T>C (p.Tyr438His) rs137852870
NM_000977.4(RPL13):c.548G>A (p.Arg183His) rs1597676540
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001029896.2(WDR45):c.516+1_516+3del rs1557084113
NM_001031710.3(KLHL7):c.178GTT[1] (p.Val61del) rs1554286093
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter) rs768126403
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?) rs1592107594
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001326411.2(PISD):c.899G>A (p.Cys300Tyr) rs2072505076
NM_001353214.3(DYM):c.1728+2T>C rs2087482291
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr) rs199422252
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn) rs144717999
NM_001375524.1(TRRAP):c.5596C>T (p.Arg1866Cys) rs1791432323
NM_001379451.1(BCORL1):c.95C>T (p.Pro32Leu) rs1603105985
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg) rs121912871
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del) rs1027855768
NM_002730.4(PRKACA):c.409G>A (p.Gly137Arg) rs148280386
NM_003036.4(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003172.4(SURF1):c.324-11T>G rs375398247
NM_003172.4(SURF1):c.799_800del (p.Leu267fs) rs864309500
NM_003676.4(DEGS1):c.565A>G (p.Asn189Asp) rs771864122
NM_003995.4(NPR2):c.448G>A (p.Gly150Ser) rs2132066800
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004114.5(FGF13):c.14T>G (p.Ile5Ser) rs2124253547
NM_004273.5(CHST3):c.430G>A (p.Gly144Ser) rs1360950889
NM_004273.5(CHST3):c.688G>A (p.Glu230Lys) rs774599785
NM_004371.4(COPA):c.3248G>A (p.Arg1083His) rs141211632
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_005249.5(FOXG1):c.602G>C (p.Arg201Pro) rs2138661213
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005630.3(SLCO2A1):c.1370C>T (p.Pro457Leu)
NM_005630.3(SLCO2A1):c.289C>T (p.Arg97Cys)
NM_005993.5(TBCD):c.1126G>A (p.Val376Met) rs183349235
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) rs1064793286
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs) rs1565156743
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007126.5(VCP):c.553G>A (p.Glu185Lys) rs864309501
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser) rs2148711383
NM_014055.4(IFT81):c.134T>C (p.Ile45Thr) rs1227213671
NM_014754.3(PTDSS1):c.1058A>G (p.Gln353Arg) rs587777088
NM_015311.3(OBSL1):c.1534+5G>C rs775172922
NM_016146.6(TRAPPC4):c.191T>C (p.Leu64Pro) rs1943259006
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) rs1554597716
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018131.5(CEP55):c.190C>T (p.Arg64Ter) rs146596670
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) rs797045825
NM_022786.3(ARV1):c.518dup (p.Pro174fs) rs544784472
NM_024649.5(BBS1):c.981del (p.Ala328fs) rs1057516371
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs) rs1389599028
NM_030578.4(B9D2):c.15C>A (p.His5Gln) rs1388769907
NM_030923.5(TMEM163):c.227T>C (p.Leu76Pro)
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) rs776679653
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser) rs1085307129
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032217.5(ANKRD17):c.4091G>C (p.Gly1364Ala) rs2148684587
NM_033419.5(PGAP3):c.851A>G (p.His284Arg) rs776720232
NM_054012.4(ASS1):c.420+1G>T rs1554983719
NM_138576.4(BCL11B):c.2507G>A (p.Ser836Asn) rs2139752892
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys) rs193922721
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_178565.5(RSPO2):c.125del (p.Gly42fs) rs1554579568
NM_183075.3(CYP2U1):c.1355A>T (p.Asp452Val)
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln) rs864309515
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) rs781986930
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs) rs727502799
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe) rs773779627
Single allele
UGT1A1*28 rs3064744

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