ClinVar Miner

Variants from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre with conflicting interpretations

Location: Saudi Arabia  Primary collection method: research
Minimum review status of the submission from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre: Collection method of the submission from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre:
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
523 61 0 88 16 1 74 170

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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 13 3 0 0 0 0
likely pathogenic 63 0 61 12 5 1 1
uncertain significance 2 1 0 4 5 0 0
likely benign 0 0 9 0 12 0 0

Submitter to submitter summary #

Total submitters: 75
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 10 0 25 4 0 23 51
Invitae 0 12 0 28 9 0 12 48
Faculty of Health Sciences, Beirut Arab University 0 0 0 25 0 0 0 25
Revvity Omics, Revvity 0 7 0 10 1 0 10 21
CeGaT Center for Human Genetics Tuebingen 0 4 0 8 2 0 8 18
PreventionGenetics, part of Exact Sciences 0 3 0 8 1 0 6 15
Eurofins Ntd Llc (ga) 0 1 0 5 1 1 10 15
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 19 0 5 1 0 7 13
Ambry Genetics 0 3 0 0 2 0 10 12
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 1 1 0 8 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 4 0 0 1 0 8 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 5 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 1 0 0 5 6
Baylor Genetics 0 5 0 4 0 0 1 5
Illumina Laboratory Services, Illumina 0 0 0 3 2 0 1 5
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 4 4
Fulgent Genetics, Fulgent Genetics 0 1 0 2 0 0 2 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 4 0 0 0 4
OMIM 0 8 0 3 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 2 0 0 2 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 1 0 2 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 2 0 0 1 3
Clinical Genetics, Academic Medical Center 0 0 0 1 0 0 1 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 1 0 0 1 2
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 1 0 0 2
Athena Diagnostics 0 1 0 1 0 0 1 1
Elsea Laboratory, Baylor College of Medicine 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 1 0 0 0 1
Mendelics 0 1 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 1 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 1 1
UW Hindbrain Malformation Research Program, University of Washington 0 0 0 0 0 0 1 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 0 1 0 0 0 1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 1 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 1 0 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 1 0 0 1 1
Flegel Lab, National Institutes of Health 0 0 0 1 0 0 0 1
Leiden Open Variation Database 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 1 0 0 0 1
Inherited Neuropathy Consortium 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 0 0 1 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 0 1 0 0 0 1
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 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 0 0 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 0 0 0 0 1 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 0 0 1 0 0 0 1
Central Laboratory, The First Hospital of Lanzhou University 0 0 0 1 0 0 0 1
New York Genome Center 0 0 0 1 0 0 1 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 1 0 0 0 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 0 0 1 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 1 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 0 0 0 0 1 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 170
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_001384474.1(LOXHD1):c.4530+107A>G rs1450425 0.66249
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_198576.4(AGRN):c.3516+10G>C rs76264143 0.05034
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356 0.02010
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_021939.4(FKBP10):c.917+53G>T rs141387386 0.00927
NM_020639.3(RIPK4):c.1884C>T (p.Ser628=) rs55812846 0.00492
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_001374828.1(ARID1B):c.2654C>T (p.Ser885Leu) rs150140314 0.00108
NM_001193315.2(VIPAS39):c.136G>A (p.Val46Met) rs148360332 0.00106
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys) rs200040003 0.00037
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039 0.00025
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_144508.5(KNL1):c.3634G>A (p.Ala1212Thr) rs533933463 0.00014
NM_001195305.3(BBIP1):c.38-6T>C rs541703290 0.00013
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) rs373369949 0.00007
NM_001031727.4(MRI1):c.629G>A (p.Arg210Gln) rs141094096 0.00006
NM_001148.6(ANK2):c.8324A>G (p.His2775Arg) rs534934297 0.00006
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001701.4(BAAT):c.761C>T (p.Thr254Met) rs768526453 0.00006
NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys) rs786205473 0.00005
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His) rs750969198 0.00004
NM_001673.5(ASNS):c.1211G>A (p.Arg404His) rs774808316 0.00004
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln) rs781015830 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678 0.00004
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) rs751726519 0.00004
NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn) rs751931568 0.00004
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170 0.00004
NM_001042472.3(ABHD12):c.1189C>T (p.Gln397Ter) rs745990956 0.00003
NM_001256789.3(CACNA1F):c.209G>A (p.Arg70Gln) rs781923569 0.00003
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) rs773450573 0.00003
NM_033641.4(COL4A6):c.5071T>G (p.Ter1691Glu) rs769211787 0.00003
NM_001004334.4(GPR179):c.349G>A (p.Asp117Asn) rs776996552 0.00002
NM_001163435.3(TBCK):c.1897+1G>A rs374319146 0.00002
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623 0.00002
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) rs770045008 0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816 0.00002
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461 0.00002
NM_139125.4(MASP1):c.1576C>T (p.Arg526Ter) rs377074720 0.00002
NM_194293.4(XIRP1):c.4495G>A (p.Glu1499Lys) rs369082457 0.00002
NM_000390.4(CHM):c.1144G>T (p.Glu382Ter) rs786205604 0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn) rs773528195 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107 0.00001
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585 0.00001
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313 0.00001
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr) rs786205539 0.00001
NM_001267550.2(TTN):c.74840G>A (p.Arg24947His) rs765512476 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg) rs753625117 0.00001
NM_001353214.3(DYM):c.1282C>T (p.Arg428Ter) rs771414481 0.00001
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479 0.00001
NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter) rs753824908 0.00001
NM_001931.5(DLAT):c.975G>A (p.Pro325=) rs1432866316 0.00001
NM_004530.6(MMP2):c.538G>A (p.Asp180Asn) rs786205497 0.00001
NM_004560.4(ROR2):c.1970G>A (p.Arg657His) rs529829552 0.00001
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys) rs757094189 0.00001
NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter) rs762426409 0.00001
NM_006204.4(PDE6C):c.939+5G>A rs374805348 0.00001
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) rs766629205 0.00001
NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter) rs786205493 0.00001
NM_014391.3(ANKRD1):c.790C>T (p.Arg264Cys) rs786205461 0.00001
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter) rs587777420 0.00001
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314 0.00001
NM_017791.3(FLVCR2):c.1318G>A (p.Gly440Ser) rs752732384 0.00001
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His) rs397517184 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_031407.7(HUWE1):c.10035+6G>A rs782009073 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000059.4(BRCA2):c.10102T>C (p.Ser3368Pro) rs786205482
NM_000092.5(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr) rs755253596
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs) rs1555090368
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) rs786205579
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000329.3(RPE65):c.1366del (p.Glu456fs) rs786205444
NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs) rs793888523
NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter) rs786205447
NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer) rs786205445
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000426.4(LAMA2):c.1762del (p.Ala588fs) rs786205654
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000466.3(PEX1):c.657_660del (p.Ser220fs) rs786205656
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys) rs1057517173
NM_000554.6(CRX):c.274G>A (p.Ala92Thr) rs786205521
NM_000554.6(CRX):c.695del (p.Pro232fs) rs786205630
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001039348.3(EFEMP1):c.*6del rs200536754
NM_001042646.3(TRAK1):c.1759dup (p.His587fs) rs1559390743
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001127649.3(PEX26):c.228C>T (p.Gly76=) rs786205556
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001142800.2(EYS):c.179del (p.Leu60fs) rs786205652
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs) rs587776895
NM_001197104.2(KMT2A):c.7567_7570del (p.Val2523fs) rs797044565
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp) rs368448387
NM_001365902.3(NFIX):c.520G>T (p.Glu174Ter) rs786205515
NM_001378454.1(ALMS1):c.2726C>G (p.Ser909Ter) rs746640196
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg) rs1721483506
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro) rs730882250
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs) rs730882217
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn) rs786205642
NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr) rs797044566
NM_001953.5(TYMP):c.355G>A (p.Gly119Arg) rs786205559
NM_002085.5(GPX4):c.502-1del rs1555716575
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_004006.3(DMD):c.3922-3C>T rs786205603
NM_004380.3(CREBBP):c.4890+2T>C rs786205495
NM_004738.5(VAPB):c.656G>T (p.Gly219Val) rs786205553
NM_004744.5(LRAT):c.233_242del (p.Leu78fs) rs786205644
NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter) rs151020551
NM_006204.4(PDE6C):c.1613T>C (p.Phe538Ser) rs786205462
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006343.3(MERTK):c.1604+2T>G rs786205534
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter) rs786205535
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter) rs786205533
NM_006915.3(RP2):c.2T>C (p.Met1Thr) rs797044561
NM_012434.5(SLC17A5):c.744_747del (p.Ser249fs) rs753141230
NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser) rs786205529
NM_014236.4(GNPAT):c.569-3T>G rs745869264
NM_014425.5(INVS):c.875C>T (p.Pro292Leu) rs1831916010
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
NM_015338.6(ASXL1):c.3635C>T (p.Ser1212Phe) rs542568224
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) rs786205564
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter) rs786205508
NM_017777.4(MKS1):c.1126dup (p.Thr376fs) rs2143753386
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His) rs757778790
NM_019108.4(SMG9):c.701+4A>G rs869312742
NM_020401.4(NUP107):c.303G>A (p.Met101Ile) rs730882216
NM_022124.6(CDH23):c.9058_9060del (p.Arg3020del) rs786205612
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_024649.5(BBS1):c.951+58C>T rs1856346961
NM_025000.4(DCAF17):c.322-14del rs201494527
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) rs886039814
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter) rs786204176
NM_032353.4(VPS25):c.22C>T (p.Pro8Ser)
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe) rs786205457
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs) rs1791765505
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro) rs1771471295
NM_153365.3(TAPT1):c.1156C>T (p.Arg386Ter) rs1265664823
NM_153704.6(TMEM67):c.1413-2A>G rs786205608
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_198428.3(BBS9):c.2115+1G>A rs886039801
NM_198576.4(AGRN):c.2457G>C (p.Gly819=) rs112039851
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg) rs786205450
NM_201253.3(CRB1):c.2330_2336del (p.Pro777fs) rs786205610
NM_201548.5(CERKL):c.812T>C (p.Ile271Thr) rs786205545
NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter) rs2138066721
Single allele rs1555502637

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