ClinVar Miner

Variants from Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare with conflicting interpretations

Location: Bangladesh  Primary collection method: clinical testing
Minimum review status of the submission from Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare: Collection method of the submission from Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare:
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
254 95 2 113 20 2 27 152

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
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 2 69 14 1 0 0
likely pathogenic 44 0 12 1 0 2
uncertain significance 1 0 0 18 3 0

Submitter to submitter summary #

Total submitters: 112
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 51 0 14 8 0 4 26
Fulgent Genetics, Fulgent Genetics 0 34 0 24 0 0 1 25
Revvity Omics, Revvity 0 26 0 19 0 0 3 22
OMIM 0 45 1 18 0 2 0 21
Baylor Genetics 0 32 0 19 0 0 1 20
Counsyl 0 9 0 13 0 0 2 15
Neuberg Centre For Genomic Medicine, NCGM 0 34 0 12 0 0 3 15
CeGaT Center for Human Genetics Tuebingen 0 14 0 6 8 0 0 14
GeneDx 0 28 0 8 2 0 3 13
Natera, Inc. 0 23 0 11 0 0 2 13
Genome-Nilou Lab 0 9 0 11 0 0 1 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 13 0 7 0 0 5 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 32 0 11 0 0 1 12
Illumina Laboratory Services, Illumina 0 14 0 8 0 0 1 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 12 0 5 0 0 3 8
3billion 0 22 0 7 0 0 0 7
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 11 0 7 0 0 0 7
Ambry Genetics 0 10 0 1 4 0 1 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 17 0 6 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 6 0 4 1 0 0 5
PreventionGenetics, part of Exact Sciences 0 7 0 1 4 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 8 0 4 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 8 0 4 0 0 0 4
Lifecell International Pvt. Ltd 0 3 0 4 0 0 0 4
Variantyx, Inc. 0 9 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 0 3 0 0 0 3
Color Diagnostics, LLC DBA Color Health 0 1 0 2 0 0 1 3
Institute of Human Genetics, University of Leipzig Medical Center 0 10 0 3 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 8 0 2 0 0 1 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 5 1 2 0 0 0 3
Mendelics 0 14 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 0 3 0 0 0 3
Suma Genomics 0 3 0 2 0 0 1 3
All of Us Research Program, National Institutes of Health 0 2 0 1 0 0 1 2
Arcensus 0 1 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 0 2 0 0 0 2
Clinical Genetics, Academic Medical Center 0 0 0 1 1 0 0 2
Dasa 0 7 0 2 0 0 0 2
Eurofins Ntd Llc (ga) 0 10 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 1 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 2 0 0 0 2
MGZ Medical Genetics Center 0 5 0 2 0 0 0 2
Myriad Genetics, Inc. 0 6 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 2 0 0 0 2
New York Genome Center 0 2 0 2 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 0 3 0 2 0 0 0 2
Solve-RD Consortium 0 0 0 2 0 0 0 2
Athena Diagnostics 0 2 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 1 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 0 0 0 1 1
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 0 0 0 1 0 0 0 1
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel 0 0 0 1 0 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 2 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 3 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 2 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 3 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 1 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 0 0 1 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 0 0 0 0 0 1 1
Dubai Health Genomic Medicine Center, Dubai Health 0 3 0 0 1 0 0 1
Dunham Lab, University of Washington 0 0 0 1 0 0 0 1
GenMed Metabolism Lab 0 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 8 0 0 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 4 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 3 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 3 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 2 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 1 0 0 0 1
Institute of Biotechnology and Microbiology, Bacha Khan University, Charsadda 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 9 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 7 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 4 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 1 0 1 0 0 0 1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 0 0 1 0 0 0 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 0 0 1 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 0 0 1 0 0 0 1
Laboratory of Molecular, Cellular and Translation Genetics in Otolaryngology/ Lim32-hcfmusp, University of Sao Paulo School of Medicine Clinics Hospital 0 0 0 1 0 0 0 1
Leiden Open Variation Database 0 1 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 4 0 0 1 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 2 0 1 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 1 0 1 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 0 0 0 1 0 0 0 1
Otogenetics 0 0 0 1 0 0 0 1
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 0 2 0 0 0 0 1 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 1 0 0 0 1
Research Laboratories, P. D. Hinduja Hospital & MRC 0 0 0 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 0 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 0 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Vasylyeva lab, Texas Tech University Health Sciences Center 0 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 152
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00337
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly) rs34644609 0.00309
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00279
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00236
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00147
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_213607.3(DNAAF19):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00108
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00065
NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter) rs200002200 0.00054
NM_014712.3(SETD1A):c.4169G>A (p.Arg1390Gln) rs779334694 0.00050
NM_012309.5(SHANK2):c.4438C>A (p.Pro1480Thr) rs557121637 0.00031
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00019
NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp) rs567899708 0.00019
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr) rs200620279 0.00019
NM_015158.5(KANK1):c.2615C>G (p.Ser872Cys) rs148558003 0.00016
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00015
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00014
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met) rs727503835 0.00014
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro) rs104893684 0.00010
NM_004608.4(TBX6):c.434C>T (p.Pro145Leu) rs202193096 0.00010
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn) rs45514002 0.00010
NM_031293.3(PMFBP1):c.2725C>T (p.Arg909Ter) rs140352254 0.00010
NM_198994.3(TGM6):c.980A>G (p.Asp327Gly) rs387907098 0.00010
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624 0.00009
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_015559.3(SETBP1):c.3233C>T (p.Thr1078Met) rs375939479 0.00008
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283 0.00007
NM_022469.4(GREM2):c.38C>T (p.Ala13Val) rs373941682 0.00007
NM_199069.2(NDUFAF3):c.489_490del (p.Gly164fs) rs746835381 0.00007
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292 0.00006
NM_001126128.2(PROK2):c.217C>T (p.Arg73Cys) rs121434272 0.00006
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_153212.3(GJB4):c.386G>A (p.Trp129Ter) rs148182439 0.00006
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314 0.00005
NM_000430.4(PAFAH1B1):c.1172C>T (p.Thr391Met) rs757892852 0.00005
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256 0.00005
NM_001080517.3(SETD5):c.2977A>G (p.Met993Val) rs779084293 0.00005
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00005
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00005
NM_006005.3(WFS1):c.2107C>T (p.Arg703Cys) rs201888856 0.00005
NM_012309.5(SHANK2):c.5273C>T (p.Ala1758Val) rs782764781 0.00005
NM_016239.4(MYO15A):c.8767C>T (p.Arg2923Ter) rs373462792 0.00005
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu) rs576139929 0.00005
NM_001042681.2(RERE):c.1973C>T (p.Thr658Met) rs761875399 0.00004
NM_153006.3(NAGS):c.1526G>A (p.Arg509Gln) rs759076608 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter) rs141597515 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_001244008.2(KIF1A):c.3703G>A (p.Asp1235Asn) rs200257048 0.00003
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys) rs768737101 0.00003
NM_005337.5(NCKAP1L):c.1111A>G (p.Met371Val) rs750982844 0.00003
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00003
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_138413.4(HOGA1):c.812G>A (p.Arg271His) rs750974539 0.00003
NM_001170535.3(ATAD3A):c.251C>T (p.Thr84Met) rs546711654 0.00002
NM_001349338.3(FOXP1):c.160G>A (p.Ala54Thr) rs758125097 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_004006.3(DMD):c.7430G>A (p.Arg2477Gln) rs764340452 0.00002
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278 0.00002
NM_004588.5(SCN2B):c.83G>A (p.Arg28Gln) rs72544145 0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880 0.00002
NM_005458.8(GABBR2):c.742G>A (p.Val248Met) rs750056383 0.00002
NM_006907.4(PYCR1):c.540+1G>A rs752297179 0.00002
NM_014141.6(CNTNAP2):c.1166G>A (p.Arg389Gln) rs548409884 0.00002
NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter) rs267607056 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_025150.5(TARS2):c.2143G>A (p.Glu715Lys) rs756855066 0.00002
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323 0.00001
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000404.4(GLB1):c.716C>T (p.Thr239Met) rs746766232 0.00001
NM_000431.4(MVK):c.613A>G (p.Asn205Asp) rs104895364 0.00001
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) rs121912441 0.00001
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu) rs397508467 0.00001
NM_001080517.3(SETD5):c.2855C>T (p.Pro952Leu) rs1475256332 0.00001
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met) rs189650890 0.00001
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter) rs757905943 0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178 0.00001
NM_001258392.3(CLPB):c.829C>T (p.Arg277Ter) rs1466435969 0.00001
NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser) rs72547552 0.00001
NM_005591.4(MRE11):c.1603G>T (p.Glu535Ter) rs1440482403 0.00001
NM_005993.5(TBCD):c.1423G>A (p.Ala475Thr) rs775014444 0.00001
NM_014727.3(KMT2B):c.4198C>T (p.Arg1400Cys) rs747829749 0.00001
NM_016204.4(GDF2):c.254C>T (p.Pro85Leu) rs199804679 0.00001
NM_016529.6(ATP8A2):c.3272+1G>A rs779337270 0.00001
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter) rs769364943 0.00001
NM_021870.2(FGG):c.902G>A (p.Arg301His) rs121913088 0.00001
NM_022168.4(IFIH1):c.2317G>T (p.Glu773Ter) rs201472224 0.00001
NM_022445.4(TPK1):c.620A>T (p.Asp207Val) rs747262651 0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766 0.00001
NM_024411.5(PDYN):c.634C>T (p.Arg212Trp) rs201486601 0.00001
NM_024514.5(CYP2R1):c.367+1G>A rs202011621 0.00001
NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp) rs143495423 0.00001
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser) rs137852885 0.00001
NM_153603.4(COG7):c.1817C>A (p.Ala606Asp) rs768615420 0.00001
NM_172351.3(CD46):c.175C>T (p.Arg59Ter) rs121909590 0.00001
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter) rs768412580 0.00001
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs) rs762031690
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000181.4(GUSB):c.1832G>A (p.Arg611Gln) rs1583879945
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000402.4(G6PD):c.1451G>A (p.Arg484His) rs137852324
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000466.3(PEX1):c.358-2A>C rs1057517500
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000512.5(GALNS):c.775C>T (p.Arg259Trp) rs61742258
NM_000531.6(OTC):c.626C>T (p.Ala209Val) rs72558417
NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro) rs45517239
NM_001037.5(SCN1B):c.631dup (p.Cys211fs) rs2514242174
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001211.6(BUB1B):c.595C>T (p.Arg199Ter) rs1403423766
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
NM_002941.4(ROBO1):c.583C>T (p.Arg195Ter) rs925005242
NM_003106.4(SOX2):c.389G>C (p.Gly130Ala) rs121918652
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_015559.3(SETBP1):c.1277C>A (p.Ala426Glu) rs187433533
NM_020320.5(RARS2):c.1A>G (p.Met1Val) rs774923951
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg) rs148402804
NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) rs1064794533
NM_022455.5(NSD1):c.6035A>G (p.Lys2012Arg) rs2480793400
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) rs751386429
NM_025243.4(SLC19A3):c.1079dup (p.Leu360fs) rs1559247315
NM_032193.4(RNASEH2C):c.428A>T (p.Lys143Ile) rs75146158
NM_032382.5(COG8):c.1583-1G>A rs1287837570
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter) rs2037682180
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter) rs4774518

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