ClinVar Miner

Variants from Centre for Mendelian Genomics,University Medical Centre Ljubljana with conflicting interpretations

Location: Slovenia — Primary collection method: clinical testing
Minimum review status of the submission from Centre for Mendelian Genomics,University Medical Centre Ljubljana: Collection method of the submission from Centre for Mendelian Genomics,University Medical Centre Ljubljana:
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
3187 468 35 209 67 14 114 396

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
Centre for Mendelian Genomics,University Medical Centre Ljubljana pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor other
pathogenic 30 88 21 4 2 1 2 1 6 1
likely pathogenic 101 4 32 2 2 0 1 0 3 0
uncertain significance 44 23 1 38 22 1 0 0 2 2
likely benign 1 0 9 0 12 0 0 0 0 0
benign 0 0 10 15 0 0 0 0 0 0
risk factor 1 0 1 1 1 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 143
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
Invitae 0 234 0 51 30 2 17 100
OMIM 0 137 0 39 0 9 28 75
Illumina Clinical Services Laboratory,Illumina 0 93 0 18 23 0 17 58
GeneReviews 0 19 30 8 1 0 7 46
Counsyl 0 43 0 31 2 0 3 36
GeneDx 0 77 0 12 6 1 10 28
Baylor Genetics 0 52 0 16 5 0 6 27
Mendelics 0 34 0 10 5 0 9 24
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 37 0 8 2 4 8 20
CeGaT Praxis fuer Humangenetik Tuebingen 0 43 0 7 1 2 7 17
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 33 0 8 5 0 3 16
Athena Diagnostics Inc 0 16 0 3 4 0 6 13
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 28 0 4 4 2 3 13
Integrated Genetics/Laboratory Corporation of America 0 47 0 7 4 1 0 12
Fulgent Genetics,Fulgent Genetics 0 41 0 8 0 0 2 10
Genetic Services Laboratory, University of Chicago 0 32 0 6 0 1 2 9
Natera, Inc. 0 50 0 4 4 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 0 29 0 6 1 0 1 8
Mayo Clinic Laboratories, Mayo Clinic 0 3 0 5 0 2 1 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 12 0 3 0 0 4 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 10 0 3 1 0 3 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4023 21 0 4 0 0 3 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 18 0 4 0 0 3 7
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 3 3 0 0 0 6
Institute of Human Genetics, Klinikum rechts der Isar 0 18 0 4 0 0 2 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 6 0 1 0 0 5 6
Ambry Genetics 0 8 0 1 3 0 1 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 14 0 2 1 0 2 5
Broad Institute Rare Disease Group, Broad Institute 0 7 0 5 0 0 0 5
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 7 0 4 0 0 1 5
Myriad Women's Health, Inc. 0 27 0 5 0 0 0 5
PreventionGenetics, PreventionGenetics 0 0 0 1 2 1 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 4 0 0 1 4
Research and Development, ARUP Laboratories 0 3 1 3 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 8 0 4 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 5 0 2 0 0 2 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 5 0 1 1 0 2 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 7 0 2 1 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 3 0 0 0 3
Sharing Clinical Reports Project (SCRP) 0 1 0 3 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 4 0 1 2 0 0 3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 2 0 0 1 3
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 3 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 14 0 2 0 0 1 3
Johns Hopkins Genomics, Johns Hopkins University 0 5 0 3 0 0 0 3
Reproductive Health Research and Development,BGI Genomics 0 4 0 2 0 0 1 3
New York Genome Center 0 3 0 2 0 0 1 3
Paris Brain Institute,Inserm - ICM 0 5 0 2 0 0 1 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 3 0 2 0 0 0 2
Blueprint Genetics 0 6 0 2 0 0 0 2
LDLR-LOVD, British Heart Foundation 0 0 0 2 0 0 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 9 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 7 0 0 0 0 2 2
Human Genetics - Radboudumc,Radboudumc 0 4 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 0 1 0 2 0 0 1 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 2 0 0 1 2
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 13 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 1 0 0 1 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 6 0 1 0 0 1 2
Gharavi Laboratory,Columbia University 0 1 0 2 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 0 0 2 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 0 2 0 0 0 2
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 0 0 0 0 0 2 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 12 0 1 0 0 0 1
Collagen Diagnostic Laboratory,University of Washington 0 0 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 3 0 0 1 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 2 0 1 0 0 0 1
Medical Genomics Laboratory,Department of Genetics UAB 0 2 0 1 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 1 0 0 0 0 1 1
Institute of Human Genetics,Cologne University 0 2 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 4 0 1 0 0 0 1
Michigan Medical Genetics Laboratories,University of Michigan 0 1 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 5 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Shanghain Institute for Pediatric Research 0 0 0 1 0 0 0 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 1 0 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 5 0 0 1 0 0 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 0 0 0 0 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 0 1
Wellcome Centre for Mitochondrial Research,Newcastle University 0 2 0 0 0 0 1 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 2 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 0 0 0 1 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 7 0 0 0 0 1 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Laboratory of Human Genetics,Universidade de São Paulo 0 0 0 0 0 0 1 1
Neurogenetics of motion laboratory,Montreal Neurological Institute 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 4 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 3 0 1 0 0 0 1
UW Hindbrain Malformation Research Program,University of Washington 0 7 0 0 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 6 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 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
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Medical Genetics, University of Parma 0 8 0 0 0 0 1 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 4 0 0 0 0 1 1
Neurology Department,Peking University First Hospital 0 0 0 0 0 0 1 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 4 0 0 0 0 1 1
Yale Center for Mendelian Genomics,Yale University 0 0 0 1 0 0 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 4 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
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades 0 0 0 1 0 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 5 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 1 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 0 0 1 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 6 0 1 0 0 0 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 3 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 1 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 1 0 0 0 1
Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics,Sofia University, St. Kliment Ohridski 0 0 0 0 0 0 1 1
SavaGenome Genetic Health Clinic 0 0 0 0 1 0 0 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Research Centre for Medical Genetics,Federal State Budgetary Scientific Institution 0 0 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 1 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 0 0 0 0 0 0 1 1
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 396
Download table as spreadsheet
HGVS dbSNP
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1:m.9185T>C rs199476138
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del) rs387906308
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) rs17602729
NM_000036.2(AMPD1):c.567G>T (p.Gln189His) rs139582106
NM_000047.2(ARSL):c.1743G>A (p.Trp581Ter) rs80338714
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000067.3(CA2):c.472A>G (p.Lys158Glu)
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000085.4(CLCNKB):c.700T>C (p.Trp234Arg) rs144517772
NM_000087.3(CNGA1):c.959C>T rs62625014
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000111.2(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_000123.3(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243
NM_000140.4(FECH):c.315-48T>C rs2272783
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000170.2(GLDC):c.176G>C (p.Arg59Thr) rs386833530
NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr) rs779993828
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329
NM_000267.3(NF1):c.1900A>G (p.Ile634Val) rs745906742
NM_000267.3(NF1):c.2252-3T>G rs1057518842
NM_000267.3(NF1):c.6756+1G>A rs1555534964
NM_000270.3(PNP):c.265G>A (p.Glu89Lys) rs104894453
NM_000271.5(NPC1):c.2366G>A (p.Arg789His) rs483352891
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.912+2T>C rs281865449
NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000327.3(ROM1):c.339dup (p.Leu114fs) rs71458427
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000330.3(RS1):c.214G>A (p.Glu72Lys) rs104894928
NM_000330.4(RS1):c.185-3221G>A
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) rs121908552
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.3(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000426.3(LAMA2):c.2049_2050delAG rs202247790
NM_000426.3(LAMA2):c.2901C>A (p.Cys967Ter) rs121913577
NM_000426.3(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101
NM_000478.6(ALPL):c.1182dup (p.Ile395fs) rs754826836
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000506.5(F2):c.*97G>A rs1799963
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
NM_000527.5(LDLR):c.1705+1G>T rs875989926
NM_000532.5(PCCB):c.654+3A>C rs199886085
NM_000540.2(RYR1):c.7111G>A (p.Glu2371Lys) rs1057518940
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) rs121918619
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098
NM_000891.2(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_001012515.3(FECH):c.68-23C>T rs2269219
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) rs104894187
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs) rs80359845
NM_001029.5(RPS26):c.224_225del (p.Val75fs) rs1555208596
NM_001030001.4(RPS29):c.149T>C (p.Ile50Thr) rs587777569
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550
NM_001042492.3(NF1):c.479+5G>T
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385
NM_001077401.2(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met) rs137852954
NM_001080522.2(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111125.3(IQSEC2):c.1402-15dup rs781861463
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127698.2(SPINK5):c.1431-12G>A rs368134354
NM_001127698.2(SPINK5):c.891C>T (p.Cys297=) rs752941297
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467
NM_001142279.2(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683
NM_001163817.2(DHCR7):c.1012G>A (p.Val338Met) rs72954276
NM_001163817.2(DHCR7):c.964-1G>T rs138659167
NM_001164278.2(SLC37A4):c.1309C>T (p.Arg437Ter) rs121908979
NM_001164617.2(GPC3):c.733C>A (p.His245Asn) rs199778216
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303
NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter) rs397514552
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001199799.2(ILDR1):c.745del (p.Ser249fs) rs571007078
NM_001202.6(BMP4):c.272C>G (p.Ser91Cys) rs121912767
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln) rs148099152
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641
NM_001271.4(CHD2):c.692+10A>G
NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile) rs201992075
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613
NM_001330078.2(NRXN1):c.772+1040A>T rs201741449
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001354663.2(OPA1):c.-260_-243del rs863224140
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001365536.1(SCN9A):c.377+5C>T rs200972952
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del) rs530256606
NM_001374353.1(GLI2):c.413C>T (p.Thr138Met)
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001609.4(ACADSB):c.303+1G>A rs147936696
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989
NM_001845.6(COL4A1):c.904-9C>T rs201481886
NM_001848.2(COL6A1):c.814G>A (p.Gly272Ser) rs398123640
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270
NM_001946.4(DUSP6):c.229T>A (p.Phe77Ile) rs587776978
NM_002047.4(GARS1):c.1031+14T>G rs189589556
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002282.3(KRT83):c.828G>A (p.Met276Ile)
NM_002473.5(MYH9):c.2105G>A (p.Arg702His) rs80338827
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798
NM_003036.4(SKI):c.347G>A (p.Gly116Glu) rs387907303
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003122.4(SPINK1):c.101A>G (p.Asn34Ser) rs17107315
NM_003238.5(TGFB2):c.356C>T (p.Pro119Leu) rs149533093
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003482.3(KMT2D):c.10882C>G (p.Leu3628Val) rs773395827
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004006.2(DMD):c.5586+9G>A rs200025478
NM_004183.4(BEST1):c.302C>T (p.Pro101Leu)
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004333.6(BRAF):c.755G>C (p.Arg252Pro) rs1325951163
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004572.3(PKP2):c.2300-20dup rs746936605
NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863
NM_004646.3(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262
NM_005051.3(QARS1):c.117+17C>T rs202012811
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437
NM_005529.7(HSPG2):c.958+14G>A rs200930800
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) rs751889864
NM_005710.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter) rs1554055106
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463
NM_006432.4(NPC2):c.441+1G>A rs140130028
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006623.4(PHGDH):c.290+2T>C rs886041874
NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp) rs139853969
NM_006790.2(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006939.4(SOS2):c.800T>G (p.Met267Arg) rs797045167
NM_006950.3(SYN1):c.1982+10C>A
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_012120.3(CD2AP):c.764dup (p.Ser256fs)
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686
NM_012222.2(MUTYH):c.725G>A (p.Arg242His) rs140342925
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His) rs200321595
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser) rs575642464
NM_014159.7(SETD2):c.148G>A (p.Ala50Thr) rs191985301
NM_014210.4(EVI2A):c.527A>G (p.Gln176Arg) rs144778786
NM_014249.4(NR2E3):c.119-2A>C rs2723341
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn) rs763799125
NM_014780.4(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334
NM_014946.4(SPAST):c.1276C>T rs1060502227
NM_014946.4(SPAST):c.1413+3_1413+6del rs570685843
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) rs375168720
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015570.4(AUTS2):c.3377ACC[9] (p.His1133dup) rs538005366
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His) rs200410163
NM_016335.5(PRODH):c.1292G>A (p.Arg431His) rs2904552
NM_016335.5(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018122.5(DARS2):c.228-21_228-20delinsC rs1553201258
NM_018122.5(DARS2):c.492+2T>C rs142433332
NM_018480.5(TMEM126B):c.635G>T (p.Gly212Val) rs141542003
NM_018848.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.1578+1G>A rs372006750
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567
NM_020191.3(MRPS22):c.1032_1035dup (p.Leu346fs) rs772578397
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_021008.3(DEAF1):c.667G>A (p.Gly223Ser) rs1057518811
NM_021922.3(FANCE):c.1333C>T rs141551053
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319
NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022787.4(NMNAT1):c.115+3A>G rs181504239
NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp) rs121908359
NM_024022.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980
NM_024312.5(GNPTAB):c.229GTT[1] (p.Val78del) rs281864952
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024675.3(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746
NM_024996.5(GFM1):c.829dup (p.Ser277fs) rs771865940
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter) rs199588440
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs) rs312262759
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro) rs372174278
NM_032978.7(DTNA):c.177A>G (p.Ile59Met) rs1057518968
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_033163.4(FGF8):c.451G>A (p.Gly151Ser) rs606231407
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu)
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.1997G>A (p.Gly666Asp) rs104886153
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg) rs104886060
NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp) rs104886086
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_054012.4(ASS1):c.174+1G>T rs748264993
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639
NM_054027.6(ANKH):c.1124_1126del (p.Ser375del) rs121908406
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554
NM_144588.7(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup) rs531550505
NM_144773.3(PROKR2):c.58del (p.His20fs) rs587777834
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys) rs150785666
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln) rs387907050
NM_152778.3(MFSD8):c.754+2T>A rs587778809
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) rs74315448
NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) rs120074177
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His)
NM_194318.4(B3GLCT):c.660+1G>A rs80338851
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) rs1057517753
NM_198578.4(LRRK2):c.3777+7C>T rs41286480
NM_198578.4(LRRK2):c.4536+3A>G rs41286476
NM_198578.4(LRRK2):c.7067C>T (p.Thr2356Ile) rs113511708
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201548.5(CERKL):c.481+2T>G rs753994107
NM_203447.3(DOCK8):c.54-1G>T rs192864327
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His) rs119103284
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg) rs351855
Single allele

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