ClinVar Miner

Variants from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital: Collection method of the submission from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital:
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
349 210 0 76 58 2 34 161

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
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital pathogenic likely pathogenic uncertain significance likely benign benign protective
pathogenic 0 56 11 3 3 0
likely pathogenic 18 0 5 1 0 0
uncertain significance 11 6 0 49 21 2
likely benign 0 0 2 0 1 0
benign 0 0 2 1 0 0

Submitter to submitter summary #

Total submitters: 101
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 50 0 6 20 0 6 32
Labcorp Genetics (formerly Invitae), Labcorp 0 94 0 9 11 0 9 29
CeGaT Center for Human Genetics Tuebingen 0 12 0 2 12 0 5 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 68 0 2 15 0 2 19
Ambry Genetics 0 19 0 2 13 0 1 16
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 24 0 8 4 0 1 13
PreventionGenetics, part of Exact Sciences 0 9 0 0 10 0 2 12
Illumina Laboratory Services, Illumina 0 9 0 0 7 0 3 10
Fulgent Genetics, Fulgent Genetics 0 14 0 4 2 0 1 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 14 0 0 5 0 1 6
Genetic Services Laboratory, University of Chicago 0 42 0 2 3 0 1 6
Genome-Nilou Lab 0 25 0 4 0 0 2 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 8 0 5 0 0 1 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 4 0 1 0 0 4 5
Eurofins Ntd Llc (ga) 0 19 0 0 4 0 1 5
Mayo Clinic Laboratories, Mayo Clinic 0 18 0 1 3 0 1 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 3 0 0 4 0 1 5
Athena Diagnostics 0 13 0 0 4 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 1 3 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 2 0 0 4
OMIM 0 62 0 4 0 0 0 4
Revvity Omics, Revvity 0 14 0 2 1 0 1 4
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 14 0 2 1 0 0 3
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 0 0 3 0 0 0 3
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 5 0 2 0 0 1 3
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 1 1 0 1 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 3 0 0 3 0 0 3
Variantyx, Inc. 0 6 0 3 0 0 0 3
3billion 0 30 0 2 0 0 0 2
All of Us Research Program, National Institutes of Health 0 7 0 1 0 0 1 2
CSER _CC_NCGL, University of Washington 0 1 0 1 0 0 1 2
Center for Medical Genetics Ghent, University of Ghent 0 3 0 1 0 0 1 2
Centre for Population Genomics, CPG 0 9 0 0 1 0 1 2
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 1 2
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 5 0 0 1 0 1 2
Clinical Genetics, Academic Medical Center 0 3 0 1 1 0 0 2
Counsyl 0 1 0 2 0 0 0 2
Dasa 0 6 0 2 0 0 0 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 0 2 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 0 2 0 0 2
Medical Genetics, University of Parma 0 9 0 1 0 0 1 2
Mendelics 0 3 0 0 1 0 1 2
Natera, Inc. 0 1 0 1 1 0 0 2
UCL Genetics Institute, UCL 0 0 0 0 0 2 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 2 0 1 0 0 0 1
Baylor Genetics 0 18 0 0 0 0 1 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 2 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 0 0 0 1 1
Blueprint Genetics 0 4 0 1 0 0 0 1
CFTR-France 0 1 0 1 0 0 0 1
CFTR2 0 2 0 1 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 4 0 0 0 0 1 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 0 0 0 0 1 1
Center for Human Genetics, University of Leuven 0 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 0 0 1 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 0 0 1 0 0 0 1
Clinical Biochemistry Laboratory, Health Services Laboratory 0 3 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 0 0 1 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 3 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 6 0 0 0 0 1 1
Color Diagnostics, LLC DBA Color Health 0 1 0 0 0 0 1 1
Core Molecular Diagnostic Lab, McGill University Health Centre 0 0 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 5 0 0 0 0 1 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 1 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 0 0 1 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 3 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 5 0 0 0 0 1 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 1 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 15 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 3 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 0 0 1 0 0 0 1
Giacomini Lab, University of California, San Francisco 0 0 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 1 0 0 0 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 7 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 4 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 20 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 4 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 9 0 1 0 0 0 1
MGZ Medical Genetics Center 0 12 0 1 0 0 0 1
Medical Genetics Clinic, University of Catania 0 0 0 0 0 0 1 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 4 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 4 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 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 1 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 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 9 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 25 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 161
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858 0.01999
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01559
NM_000348.4(SRD5A2):c.*43G>A rs28383082 0.00951
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00944
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00746
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_006079.5(CITED2):c.479A>T (p.His160Leu) rs111814036 0.00211
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00188
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904 0.00175
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00175
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753 0.00141
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val) rs200398000 0.00096
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00088
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00086
NM_005149.3(TBX19):c.204-3T>C rs200043223 0.00069
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg) rs144155507 0.00063
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001035.3(RYR2):c.8209-3A>G rs376788358 0.00044
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_000815.5(GABRD):c.775G>A (p.Val259Ile) rs148908731 0.00039
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620 0.00034
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050 0.00032
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00029
NM_144573.4(NEXN):c.242A>T (p.Asp81Val) rs367871780 0.00028
NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met) rs200603610 0.00024
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221 0.00023
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00022
NM_014000.3(VCL):c.787A>T (p.Thr263Ser) rs142233726 0.00022
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys) rs199663613 0.00020
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His) rs148321416 0.00015
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser) rs121434247 0.00014
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) rs187152753 0.00014
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu) rs200177134 0.00012
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325 0.00012
NM_001148.6(ANK2):c.1673T>C (p.Leu558Ser) rs139199018 0.00011
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747 0.00009
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) rs9332967 0.00009
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00006
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met) rs377068202 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131 0.00005
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser) rs61750070 0.00004
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His) rs775673512 0.00004
NM_020975.6(RET):c.406G>A (p.Glu136Lys) rs79014735 0.00004
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu) rs863223434 0.00003
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211 0.00003
NM_000529.2(MC2R):c.409C>T (p.Arg137Trp) rs104894660 0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys) rs753351853 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118 0.00003
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705 0.00003
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246 0.00002
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser) rs9332961 0.00002
NM_000529.2(MC2R):c.634del (p.Arg212fs) rs1226345778 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro) rs564759063 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_000093.5(COL5A1):c.2065C>T (p.Pro689Ser) rs943838033 0.00001
NM_000163.5(GHR):c.508G>C (p.Asp170His) rs121909366 0.00001
NM_000348.4(SRD5A2):c.534C>A (p.Tyr178Ter) rs1200261940 0.00001
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742 0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn) rs758900656 0.00001
NM_001042492.3(NF1):c.4373A>G (p.Glu1458Gly) rs878853894 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.7211C>T (p.Ala2404Val) rs771706364 0.00001
NM_001182.5(ALDH7A1):c.312+1G>A rs199497486 0.00001
NM_001354712.2(THRB):c.1357C>G (p.Pro453Ala) rs28933408 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) rs754137696 0.00001
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) rs376439188 0.00001
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598 0.00001
NM_020975.6(RET):c.867+4del rs398124368 0.00001
NC_000010.11:g.87863494G>C rs587780001
NM_000044.6(AR):c.2086G>A (p.Asp696Asn) rs1555995840
NM_000044.6(AR):c.2343G>A (p.Met781Ile) rs137852589
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys) rs748905831
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr) rs137854460
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.3(KCNQ1):c.757T>C (p.Ser253Pro) rs764781840
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del) rs397508127
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000233.4(LHCGR):c.370C>T (p.Arg124Ter) rs773279269
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=) rs754221948
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His) rs201175894
NM_000348.4(SRD5A2):c.282-2A>G rs1340425455
NM_000348.4(SRD5A2):c.446-10_446-8del rs758063160
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_000492.4(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg) rs28926178
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln) rs199473368
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1393-2A>G rs1555612266
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser) rs137854554
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg) rs199474751
NM_001042492.3(NF1):c.6623C>G (p.Ala2208Gly) rs1555534886
NM_001042492.3(NF1):c.6921+1G>A rs1060500355
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala) rs121918704
NM_001354712.2(THRB):c.803C>G (p.Ala268Gly) rs750905761
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu) rs757979350
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser) rs1557303381
NM_005149.3(TBX19):c.158_159del (p.Arg53fs) rs763818059
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs) rs587784527
NM_170707.4(LMNA):c.3G>C (p.Met1Ile) rs794728598

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