ClinVar Miner

Variants from NIHR Bioresource Rare Diseases, University of Cambridge with conflicting interpretations

Location: United Kingdom — Primary collection method: research
Minimum review status of the submission from NIHR Bioresource Rare Diseases, University of Cambridge: Collection method of the submission from NIHR Bioresource Rare Diseases, University of Cambridge:
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
1496 130 3 122 9 10 70 197

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
NIHR Bioresource Rare Diseases, University of Cambridge pathogenic likely pathogenic uncertain significance likely benign benign drug response protective risk factor other
pathogenic 3 15 7 1 1 1 1 3 2
likely pathogenic 107 0 47 8 5 1 1 1 2
uncertain significance 11 5 0 7 4 1 1 0 1
likely benign 0 0 1 0 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 76
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 14 0 18 0 7 7 32
GeneDx 0 20 0 21 3 0 7 29
Invitae 0 8 0 19 4 0 9 29
Blueprint Genetics 0 20 0 27 0 0 1 28
Illumina Clinical Services Laboratory,Illumina 0 15 0 7 4 0 16 26
CeGaT Praxis fuer Humangenetik Tuebingen 0 16 0 15 1 0 4 19
Counsyl 0 22 0 6 0 0 11 17
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 22 0 11 0 0 5 16
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 7 0 9 0 3 1 13
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 10 0 6 0 0 8 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 5 0 6 1 0 4 11
Fulgent Genetics,Fulgent Genetics 0 6 0 9 0 0 2 11
Sharon lab,Hadassah-Hebrew University Medical Center 0 11 0 10 0 0 0 10
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 6 0 8 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 7 0 0 2 8
Mendelics 0 4 0 5 0 0 1 6
Athena Diagnostics Inc 0 4 0 3 1 0 3 5
GeneReviews 0 1 3 2 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 3 0 2 0 0 3 5
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 0 3 0 0 2 5
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen 0 2 0 3 0 0 2 5
Integrated Genetics/Laboratory Corporation of America 0 2 0 3 0 0 1 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 3 0 0 1 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 1 0 0 2 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 3 0 0 1 3
Reproductive Health Research and Development,BGI Genomics 0 2 0 3 0 0 0 3
Baylor Genetics 0 0 0 2 0 0 1 2
Claritas Genomics 0 0 0 0 0 0 2 2
PreventionGenetics,PreventionGenetics 0 0 0 0 2 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1809 12 0 1 0 0 2 2
Undiagnosed Diseases Network,NIH 0 0 0 2 0 0 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 2 0 0 1 2
ClinGen Hearing Loss Variant Curation Expert Panel 0 2 0 1 0 0 1 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 3 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 1 0 0 0 1
Molecular Genetics Laboratory,Institute for Ophthalmic Research 0 2 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 0 0 1 0 1
Ambry Genetics 0 2 0 1 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 0 1 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 0 0 1 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 1 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 1 1
Rui Chen Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 5 0 1 0 0 0 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 1 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 1 0 0 1 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 1 1
Tim Yu lab,Boston Children's Hospital 0 0 0 1 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 1 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 1 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 1 1
Flegel Lab,National Institutes of Health 0 0 0 1 0 0 1 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 0 0 1 1
Molecular Medicine,University of Leeds 0 1 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades 0 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 1 1
Genetics and Genomics, Alberta Children's Hospital 0 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 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
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Central Laboratory,The First Hospital of Lanzhou University 0 0 0 1 0 0 1 1

All variants with conflicting interpretations #

Total variants: 197
Download table as spreadsheet
HGVS dbSNP
NM_000068.4(CACNA1A):c.2042_2043del (p.Gln681fs) rs1064794262
NM_000128.3(F11):c.1325del (p.Leu442fs) rs757530565
NM_000128.3(F11):c.1432G>A (p.Gly478Arg) rs542967227
NM_000128.3(F11):c.1489C>T (p.Arg497Ter) rs375422404
NM_000128.3(F11):c.302A>G (p.Lys101Arg) rs281875272
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.438C>A (p.Cys146Ter) rs121965066
NM_000128.3(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.3(F11):c.599G>A (p.Cys200Tyr) rs757817254
NM_000128.3(F11):c.731A>G (p.Gln244Arg) rs5969
NM_000128.3(F11):c.755+2T>C rs1220869989
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064
NM_000128.3(F11):c.976C>T (p.Arg326Cys) rs28934608
NM_000129.3(F13A1):c.1777G>A (p.Gly593Ser) rs138754417
NM_000130.4(F5):c.1321C>T (p.Arg441Cys) rs747006175
NM_000130.4(F5):c.6304C>T (p.Arg2102Cys) rs118203910
NM_000132.3(F8):c.2149C>T (p.Arg717Trp) rs137852435
NM_000132.3(F8):c.599A>G (p.Glu200Gly) rs782158761
NM_000133.3(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000174.4(GP9):c.182A>G (p.Asn61Ser) rs5030764
NM_000174.4(GP9):c.212T>C (p.Phe71Ser) rs121918037
NM_000174.4(GP9):c.70T>C (p.Cys24Arg) rs28933378
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000212.2(ITGB3):c.1366A>C (p.Thr456Pro) rs1598694640
NM_000212.2(ITGB3):c.433G>A (p.Asp145Asn) rs121918445
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) rs958609406
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981
NM_000283.3(PDE6B):c.739T>A (p.Phe247Ile) rs780521818
NM_000312.3(PROC):c.565C>T (p.Arg189Trp) rs146922325
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser) rs149071415
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.3(ABCA4):c.4253+5G>A rs61750138
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.3(ABCA4):c.5018+2T>C rs61750562
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg) rs61748545
NM_000407.4(GP1BB):c.137G>A (p.Trp46Ter) rs121909752
NM_000409.4(GUCA1A):c.296A>G (p.Tyr99Cys) rs104893967
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter) rs1598377051
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596
NM_000448.2(RAG1):c.2210G>A (p.Arg737His) rs104894286
NM_000488.3(SERPINC1):c.1154-14G>A rs542881762
NM_000488.3(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551
NM_000488.3(SERPINC1):c.235C>T (p.Arg79Cys) rs121909547
NM_000488.3(SERPINC1):c.236G>A (p.Arg79His) rs121909552
NM_000488.3(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567
NM_000488.3(SERPINC1):c.89T>A (p.Val30Glu) rs2227624
NM_000504.4(F10):c.160G>A (p.Glu54Lys) rs121964939
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266
NM_000506.4(F2):c.1814_1815del (p.His605fs) rs776618390
NM_000508.3(FGA):c.112A>G (p.Arg38Gly) rs121909608
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000552.4(VWF):c.1625C>G (p.Ala542Gly) rs141649383
NM_000552.4(VWF):c.1922C>T (p.Ala641Val) rs61754019
NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) rs41276738
NM_000552.4(VWF):c.3686T>G (p.Val1229Gly) rs61749367
NM_000552.4(VWF):c.3692A>C (p.Asn1231Thr) rs61749368
NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.4(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.4(VWF):c.4115T>G (p.Ile1372Ser) rs61750070
NM_000552.4(VWF):c.4196G>A (p.Arg1399His) rs1800382
NM_000552.4(VWF):c.5278G>A (p.Val1760Ile) rs61750604
NM_000552.4(VWF):c.5851A>G (p.Thr1951Ala) rs144072210
NM_000552.4(VWF):c.658-3C>A rs377196768
NM_000552.4(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_001013703.4(EIF2AK4):c.1392del (p.Arg465fs) rs587777102
NM_001077401.2(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser) rs1060499609
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs) rs878853382
NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001145291.1(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_001168338.1(PLG):c.112A>G (p.Lys38Glu) rs73015965
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001297.5(CNGB1):c.413-1G>A rs189234741
NM_001298.3(CNGA3):c.107_110del (p.His36fs) rs749036398
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His) rs552069173
NM_001563.4(IMPG1):c.1157C>A (p.Ala386Asp) rs144437882
NM_002163.4(IRF8):c.1279dup (p.Ter427LeuextTer?) rs1567479117
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) rs748531024
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_005141.4(FGB):c.130C>T (p.Arg44Cys) rs121909616
NM_005141.4(FGB):c.586C>T (p.Arg196Cys) rs121909623
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln) rs1581573705
NM_005373.2(MPL):c.305G>C (p.Arg102Pro) rs28928907
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1579-1G>C rs372513650
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424
NM_006269.2(RP1):c.616-6T>C rs186571865
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225
NM_006514.3(SCN10A):c.4984G>A (p.Gly1662Ser) rs151090729
NM_006915.3(RP2):c.11_13TCT[1] (p.Phe5del) rs1556313414
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) rs1556318633
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_013275.6(ANKRD11):c.3309dup (p.Asp1104fs) rs772267579
NM_014249.4(NR2E3):c.119-2A>C rs2723341
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) rs377257254
NM_015282.3(CLASP1):c.196-570C>T rs750325275
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_017890.4(VPS13B):c.6370_6371delAT rs748404277
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.1810C>T (p.Arg604Ter) rs200805087
NM_019616.4(F7):c.1024C>T (p.Arg342Trp) rs750980786
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009
NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_021870.2(FGG):c.902G>A (p.Arg301His) rs121913088
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024426.6(WT1):c.1447+4C>T rs587776577
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444
NM_030582.4(COL18A1):c.4054_4055del (p.Leu1352fs) rs398122391
NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter) rs377619533
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033517.1(SHANK3):c.271C>T (p.Arg91Ter) rs1569097392
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_153609.3(TMPRSS6):c.1795C>T (p.Arg599Ter) rs137853123
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs) rs1555850842
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg) rs878853370
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201548.4(CERKL):c.769C>T rs121909398
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.9571-2A>G rs751111524
NM_206933.3(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NR_023343.1(RNU4ATAC):n.13C>T rs559979281
Single allele

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