ClinVar Miner

Variants from Laboratoire de Génétique Moléculaire, CHU Bordeaux with conflicting interpretations

Location: France  Primary collection method: clinical testing
Minimum review status of the submission from Laboratoire de Génétique Moléculaire, CHU Bordeaux: Collection method of the submission from Laboratoire de Génétique Moléculaire, CHU Bordeaux:
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
305 93 0 89 4 1 35 110

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
Laboratoire de Génétique Moléculaire, CHU Bordeaux pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 46 15 1 1 0 0
likely pathogenic 43 0 18 0 1 0 0
uncertain significance 1 1 0 2 2 1 1
likely benign 0 1 2 0 0 0 0

Submitter to submitter summary #

Total submitters: 126
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
GeneDx 0 34 0 12 1 0 3 16
Labcorp Genetics (formerly Invitae), Labcorp 0 40 0 10 0 0 6 16
OMIM 0 25 0 13 0 0 1 14
Fulgent Genetics, Fulgent Genetics 0 13 0 9 0 0 1 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 9 0 4 1 0 4 9
Institute of Human Genetics, University of Leipzig Medical Center 0 13 0 8 0 0 1 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 15 0 7 0 0 2 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 10 0 8 0 0 1 9
3billion 0 22 0 8 0 0 0 8
Mendelics 0 8 0 5 1 0 2 8
Baylor Genetics 0 12 0 4 0 0 2 6
CeGaT Center for Human Genetics Tuebingen 0 17 0 3 1 0 2 6
Eurofins Ntd Llc (ga) 0 6 0 4 2 1 1 6
Genome-Nilou Lab 0 10 0 3 2 0 1 6
Illumina Laboratory Services, Illumina 0 8 0 3 0 0 3 6
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 0 5 0 0 1 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 4 0 0 1 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 8 0 5 0 0 0 5
Athena Diagnostics 0 5 0 2 2 0 1 4
Genetic Services Laboratory, University of Chicago 0 14 0 3 1 0 0 4
Genomic Medicine Lab, University of California San Francisco 0 1 0 4 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 3 0 3 1 0 1 4
Revvity Omics, Revvity 0 12 0 3 0 0 1 4
Variantyx, Inc. 0 9 0 4 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 0 1 0 2 1 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 0 0 0 0 3 3
Daryl Scott Lab, Baylor College of Medicine 0 5 0 2 0 0 1 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 0 1 0 0 2 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 9 0 2 0 0 1 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 2 0 0 1 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 3 0 2 1 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 7 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 0 3 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 8 0 2 0 0 1 3
Undiagnosed Diseases Network, NIH 0 5 0 1 0 0 2 3
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 0 1 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 10 0 2 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 0 1 0 0 1 2
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 2 0 0 0 2
Counsyl 0 1 0 1 0 0 1 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 3 0 1 0 0 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 1 1 0 1 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 3 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 0 1 0 2 2
Genetics Department, University Hospital of Toulouse 0 0 0 1 0 0 1 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 5 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 3 0 2 0 0 0 2
GenomeConnect - Simons Searchlight 0 3 0 2 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 0 9 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 4 0 1 0 0 1 2
MGZ Medical Genetics Center 0 4 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 1 2
Natera, Inc. 0 6 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 4 0 1 0 0 1 2
PreventionGenetics, part of Exact Sciences 0 11 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 5 0 1 0 0 1 2
RettBASE 0 1 0 1 0 0 1 2
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 1 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 6 0 1 0 0 0 1
Ambry Genetics 0 0 0 0 1 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 0 0 0 0 1 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 1 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 0 0 0 0 0 1 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 1 0 0 0 1
Central Laboratory, The First Hospital of Lanzhou University 0 0 0 0 0 0 1 1
Centre for Population Genomics, CPG 0 2 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 1 0 1 0 0 0 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 3 0 1 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 0 0 0 0 1 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 1 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 8 0 1 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 0 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 0 0 0 0 1 1
Flegel Lab, National Institutes of Health 0 0 0 0 0 0 1 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 1 0 0 0 0 1 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 2 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 5 0 1 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 0 0 1 0 0 0 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 0 0 0 1 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 1 0 0 0 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 0 0 0 1 1
Institute of Human Genetics, Heidelberg University 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 0 1 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 2 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 1 0 0 0 1
Language and Genetics Department, Max Planck Institute for Psycholinguistics 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1 1
MK Azim Lab, Mohammad Ali Jinnah University 0 0 0 0 0 0 1 1
MVZ Martinsried, Medicover Genetics 0 0 0 1 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 0 0 0 1 1
Medical Molecular Genetics Department, National Research Center 0 1 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 0 0 0 1 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
Myriad Genetics, Inc. 0 5 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 0 0 0 0 1 1
Neurology Department, Shenzhen Children's Hospital 0 0 0 1 0 0 0 1
New York Genome Center 0 2 0 0 0 0 1 1
Otogenetics 0 1 0 1 0 0 0 1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 0 1 0 1 1
Rare Disease Group, University of Exeter 0 0 0 0 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 0 2 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 0 1 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 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
Solve-RD Consortium 0 2 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 0 0 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 110
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24046
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.17677
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00944
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00115
NM_001354640.2(CIROP):c.92C>T (p.Ser31Phe) rs553352307 0.00107
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00107
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00024
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00015
NM_001354640.2(CIROP):c.64C>T (p.Arg22Ter) rs185661693 0.00014
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter) rs774702094 0.00011
NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser) rs149992595 0.00010
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp) rs777425801 0.00009
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882 0.00005
NM_016955.4(SEPSECS):c.114+3A>G rs748528138 0.00004
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847 0.00003
NM_000143.4(FH):c.1189G>A (p.Gly397Arg) rs863224007 0.00001
NM_000275.3(OCA2):c.1080C>T (p.Ser360=) rs373775562 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_013328.4(PYCR2):c.647T>G (p.Met216Arg) rs1008290173 0.00001
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter) rs755133567 0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009 0.00001
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291 0.00001
NM_144573.4(NEXN):c.1171C>T (p.Arg391Ter) rs200106758 0.00001
NM_181507.2(HPS5):c.719G>C (p.Arg240Pro) rs764296457 0.00001
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000275.3(OCA2):c.1081C>G (p.Leu361Val)
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp) rs987780496
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_001029896.2(WDR45):c.641G>A (p.Gly214Asp) rs2520261481
NM_001029896.2(WDR45):c.827+2dup rs1602537729
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu) rs1554122947
NM_001080517.3(SETD5):c.2003C>G (p.Ser668Ter) rs2125281306
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001112741.2(KCNC1):c.1273G>A (p.Val425Met) rs1085307785
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001127392.3(MYRF):c.789del (p.Ser264fs) rs769274302
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp) rs1475000361
NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter) rs2134311608
NM_001273.5(CHD4):c.2975G>A (p.Arg992Gln)
NM_001323289.2(CDKL5):c.71A>G (p.Tyr24Cys) rs1922801133
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001353921.2(ARHGEF9):c.582+1G>A rs1569476483
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys) rs1064794574
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met) rs1064795387
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys) rs121907918
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln) rs1131692261
NM_001555.5(IGSF1):c.2407dup (p.His803fs) rs1603404297
NM_001673.5(ASNS):c.736C>T (p.Arg246Cys) rs757828751
NM_001830.4(CLCN4):c.265G>A (p.Asp89Asn) rs1064794385
NM_001854.4(COL11A1):c.3816+2dup rs1469787406
NM_001923.5(DDB1):c.637G>A (p.Glu213Lys) rs2134934938
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_003011.4(SET):c.130_133del (p.Arg44fs) rs1554776342
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) rs281875197
NM_003403.5(YY1):c.1124G>A (p.Arg375Gln) rs2139605796
NM_003907.3(EIF2B5):c.468C>G (p.Ile156Met) rs1577029823
NM_004859.4(CLTC):c.2325_2327del (p.Ile776del) rs1598233581
NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg) rs2143629984
NM_005618.4(DLL1):c.845del (p.Gly282fs) rs760008381
NM_005859.5(PURA):c.98del (p.Gly33fs) rs1581036073
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006734.4(HIVEP2):c.6626_6627del (p.Tyr2209fs) rs2482735559
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp) rs1567948262
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp) rs1554065887
NM_012199.5(AGO1):c.1073A>G (p.Gln358Arg) rs2523866868
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) rs1595560288
NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs) rs2034464059
NM_013275.6(ANKRD11):c.7754G>A (p.Arg2585His) rs1567537296
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_018486.3(HDAC8):c.466A>G (p.Asn156Asp) rs1603083434
NM_018684.4(ZC4H2):c.593G>A (p.Arg198Gln) rs879255235
NM_019042.5(PUS7):c.298_299del (p.Ser100fs) rs2133254783
NM_019042.5(PUS7):c.640_641del (p.Leu214fs) rs769379928
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln) rs1057521041
NM_032271.3(TRAF7):c.1570C>T (p.Arg524Trp) rs2093132159
NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu) rs1565369746
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232
NM_138959.3(VANGL1):c.557G>A (p.Arg186His)
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys) rs141090506
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_181507.2(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
NM_194279.4(ISCA2):c.355G>A (p.Ala119Thr) rs1595231072
Single allele

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