ClinVar Miner

Variants from Reproductive Health Research and Development, BGI Genomics with conflicting interpretations

Location: China  Primary collection method: curation
Minimum review status of the submission from Reproductive Health Research and Development, BGI Genomics: Collection method of the submission from Reproductive Health Research and Development, BGI Genomics:
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
16 46 5 78 18 2 90 156

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
Reproductive Health Research and Development, BGI Genomics pathogenic likely pathogenic uncertain significance likely benign benign affects other
pathogenic 5 45 7 3 1 0 1
likely pathogenic 21 0 13 2 3 0 0
uncertain significance 27 14 0 8 6 0 0
likely benign 1 1 0 0 5 0 0
benign 27 3 7 7 0 1 0

Submitter to submitter summary #

Total submitters: 97
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 57 2 17 0 2 42 63
Department of Pathology and Laboratory Medicine, Sinai Health System 0 38 1 10 3 0 10 24
Fulgent Genetics, Fulgent Genetics 0 34 1 11 1 0 7 20
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 12 0 11 0 0 5 16
Revvity Omics, Revvity 0 30 1 9 0 0 5 15
Illumina Laboratory Services, Illumina 0 32 0 6 3 0 3 12
Labcorp Genetics (formerly Invitae), Labcorp 0 28 2 2 5 0 2 11
Mendelics 0 39 0 4 4 0 2 10
Baylor Genetics 0 30 0 5 0 0 3 8
Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research 0 0 0 0 0 0 8 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 21 0 8 0 0 0 8
Genome-Nilou Lab 0 10 0 7 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 34 1 3 1 0 2 7
3billion 0 20 0 4 0 0 2 6
Natera, Inc. 0 27 0 6 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 39 1 2 1 0 2 6
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 20 0 3 0 0 2 5
MGZ Medical Genetics Center 0 10 1 4 0 0 0 5
Myriad Genetics, Inc. 0 20 0 5 0 0 0 5
Variantyx, Inc. 0 13 0 5 0 0 0 5
Counsyl 0 3 0 2 0 0 2 4
Institute of Human Genetics, University of Leipzig Medical Center 0 14 1 1 0 0 2 4
Neuberg Centre For Genomic Medicine, NCGM 0 7 1 2 0 0 1 4
PXE International 0 1 0 4 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 4 0 2 0 0 1 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 0 2 0 0 1 3
Dubai Health Genomic Medicine Center, Dubai Health 0 3 1 0 0 0 2 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 3 0 1 0 0 2 3
Genetics and Molecular Pathology, SA Pathology 0 10 0 2 0 0 1 3
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 2 0 1 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 3 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 1 0 0 2 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 8 0 0 2 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 1 0 0 2 0 0 2
Department of Human Genetics, Hannover Medical School 0 4 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 3 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 7 0 2 0 0 0 2
Genetics Research Lab, Taif University 0 0 0 0 0 0 2 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 3 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 1 0 0 0 1 2
Genomics England Pilot Project, Genomics England 0 1 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 12 0 2 0 0 0 2
Lifecell International Pvt. Ltd 0 1 0 2 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 0 0 0 2 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 5 0 2 0 0 0 2
UW Hindbrain Malformation Research Program, University of Washington 0 0 0 0 0 0 2 2
Allergy Immunology Laboratory, Postgraduate Institute of Medical Education and Research, Chandigarh 0 0 0 0 0 0 1 1
Arcensus 0 1 0 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 1 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
Blueprint Genetics 0 2 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 7 0 0 1 0 0 1
CSER _CC_NCGL, University of Washington 0 1 0 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 0 0 0 1 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
Clinical Laboratory, Xuzhou Maternity and Child Health Care Hospital 0 0 0 0 0 0 1 1
Department of Hematology, 303rd Hospital of the People's Liberation Army 0 0 0 0 0 0 1 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 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
Elahi Laboratory, University of Tehran 0 0 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
GeneDx 0 2 0 0 1 0 0 1
GenePathDx, GenePath diagnostics 0 0 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 1 0 1 0 0 0 1
H3Africa Consortium 0 1 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 6 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 2 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 3 0 0 0 0 1 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 3 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 0 0 0 1 1
Institute of Human Genetics Munich, TUM University Hospital 0 7 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 5 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 2 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 9 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 12 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 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 1 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 4 0 1 0 0 0 1
National Institute of Mental Health and Neurosciences 0 0 0 0 0 0 1 1
New York Genome Center 0 7 0 0 0 0 1 1
OLLIN Analises Genomicas, OLLIN 0 3 1 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 3 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 3 0 1 0 0 0 1
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center 0 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 8 1 0 0 0 0 1
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 0 4 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 1 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 156
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_006005.3(WFS1):c.713-1075C>G rs6446482 0.62564
NM_000892.5(KLKB1):c.428G>A (p.Ser143Asn) rs3733402 0.58780
NM_001308093.3(GATA4):c.1150-107A>G rs745379 0.38644
NM_001308093.3(GATA4):c.*1256A>T rs12458 0.34439
NM_000277.3(PAH):c.60+62C>T rs1522296 0.34408
NM_000159.4(GCDH):c.852+223C>T rs11085825 0.30906
NM_006883.2(SHOX):c.-507G>C rs111549748 0.28055
NM_000099.4(CST3):c.73G>A (p.Ala25Thr) rs1064039 0.20062
NM_152709.5(STOX1):c.1824A>C (p.Glu608Asp) rs10509305 0.17379
NM_001308093.3(GATA4):c.*852G>A rs804290 0.15840
NM_001308093.3(GATA4):c.617-61G>C rs10503425 0.10765
NM_001308093.3(GATA4):c.1000+200G>A rs3729851 0.09324
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_000616.5(CD4):c.793C>T (p.Arg265Trp) rs28919570 0.06389
NC_000008.11:g.11573132C>T rs61199332 0.06287
NG_012820.2(ANK1):g.104117T>C rs77173848 0.04675
NM_001360016.2(G6PD):c.486-60C>G rs2515904 0.04673
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
NM_006883.2(SHOX):c.-512C>A rs113313554 0.02703
NM_001388492.1(HTT):c.3779C>T (p.Thr1260Met) rs34315806 0.02416
NM_000949.7(PRLR):c.508A>C (p.Ile170Leu) rs72478580 0.01896
NG_012820.2(ANK1):g.104072G>A rs183894680 0.01664
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr) rs80194531 0.01629
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837 0.01134
NM_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716 0.00954
NM_000506.5(F2):c.*97G>A rs1799963 0.00953
NM_021939.4(FKBP10):c.917+53G>T rs141387386 0.00927
NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val) rs77010315 0.00869
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068 0.00859
NM_001436401.1(NOBOX):c.38-293G>T rs77587352 0.00850
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile) rs185836803 0.00843
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297 0.00817
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln) rs5126 0.00784
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782 0.00771
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00740
NM_002273.4(KRT8):c.160T>C (p.Tyr54His) rs57749775 0.00715
NM_000041.4(APOE):c.487C>T (p.Arg163Cys) rs769455 0.00701
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro) rs118020901 0.00654
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_001453.3(FOXC1):c.-244C>T rs185790394 0.00605
NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter) rs141784184 0.00584
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser) rs61742739 0.00531
NM_001127496.3(SPRY4):c.841G>A (p.Val281Ile) rs142439525 0.00522
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_016233.2(PADI3):c.335T>A (p.Leu112His) rs142129409 0.00490
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00475
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_001171.6(ABCC6):c.3883-24G>A rs59513011 0.00461
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00380
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro) rs116420871 0.00348
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00347
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00337
NM_033419.5(PGAP3):c.*559C>T rs183208638 0.00300
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) rs113298164 0.00288
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00279
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) rs149484917 0.00246
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00239
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00236
NM_001001548.3(CD36):c.429+2T>C rs3211893 0.00220
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp) rs185919705 0.00200
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00186
NM_006179.5(NTF4):c.616C>T (p.Arg206Trp) rs121918427 0.00183
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779 0.00166
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00164
NM_000519.4(HBD):c.82G>T (p.Ala28Ser) rs35152987 0.00158
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00149
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_022166.4(XYLT1):c.1588-3C>T rs201818754 0.00132
NM_005084.4(PLA2G7):c.835G>T (p.Val279Phe) rs76863441 0.00131
NM_001171.6(ABCC6):c.600+23C>T rs72664290 0.00101
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00088
NM_139027.6(ADAMTS13):c.3400+141G>A rs192619276 0.00076
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00066
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132 0.00066
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00062
NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg) rs2276717 0.00058
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904 0.00055
NM_001365276.2(TNXB):c.6074A>T (p.Asp2025Val) rs201397168 0.00055
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_003805.5(CRADD):c.509G>A (p.Arg170His) rs141179774 0.00053
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00050
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00050
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn) rs28929488 0.00049
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00046
NM_173689.7(CRB2):c.3746G>A (p.Arg1249Gln) rs147412276 0.00045
NM_020949.3(SLC7A14):c.1391G>T (p.Cys464Phe) rs79668755 0.00044
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter) rs144666367 0.00037
NM_002016.2(FLG):c.3321del (p.Gly1109fs) rs200519781 0.00036
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser) rs75326924 0.00033
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_207581.4(DUOXA2):c.205+2T>C rs201506037 0.00029
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp) rs200679026 0.00028
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00027
NM_152683.4(PRIMPOL):c.265T>G (p.Tyr89Asp) rs200857997 0.00025
NM_000261.2(MYOC):c.136C>T (p.Arg46Ter) rs74315337 0.00024
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala) rs139373929 0.00024
NM_030653.4(DDX11):c.1763-1G>C rs148856317 0.00023
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00022
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00021
NM_012275.3(IL36RN):c.115+6T>C rs148755083 0.00021
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00019
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_018051.5(DYNC2I1):c.69G>A (p.Trp23Ter) rs202111347 0.00017
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319 0.00013
NM_004994.3(MMP9):c.2T>A (p.Met1Lys) rs121434556 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00009
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His) rs369091875 0.00008
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_000261.2(MYOC):c.144G>T (p.Gln48His) rs74315339 0.00001
NM_005084.4(PLA2G7):c.663+1G>A rs201899866 0.00001
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_001001548.3(CD36):c.1228_1239del (p.Ile410_Ile413del) rs550565800
NM_001001548.3(CD36):c.332_333del (p.Thr111fs) rs572295823
NM_001077197.2(PDE11A):c.20_21del (p.Arg7fs) rs202117698
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001308093.3(GATA4):c.1149+129C>T rs116052854
NM_001308093.3(GATA4):c.1149+177C>T rs12156163
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003665.4(FCN3):c.349del (p.Leu117fs) rs532781899
NM_004646.4(NPHS1):c.-489GA[7] rs139954720
NM_005210.4(CRYGB):c.10-38del rs3214759
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_007180.3(TREH):c.90-9_106del rs527655595
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_024824.5(ZC3H14):c.2204+17_2204+41del rs571303442
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys) rs765676223
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_199461.4(NANOS1):c.231CTC[3] (p.Ser83del) rs587777031

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