ClinVar Miner

Variants from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics with conflicting interpretations

Location: India  Primary collection method: clinical testing
Minimum review status of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics: Collection method of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics:
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
584 167 2 137 13 13 64 203

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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics pathogenic likely pathogenic uncertain significance likely benign benign affects pathogenic, low penetrance risk factor
pathogenic 1 74 12 1 2 8 0 0
likely pathogenic 63 1 24 3 2 2 0 0
uncertain significance 18 11 0 8 5 0 1 1
risk factor 0 0 0 0 1 0 0 0

Submitter to submitter summary #

Total submitters: 93
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 0 120 0 34 7 1 20 62
Counsyl 0 26 0 25 0 0 11 36
OMIM 0 57 0 19 0 6 5 30
Baylor Genetics 0 49 0 18 0 0 4 22
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 40 0 11 0 0 8 19
Genome-Nilou Lab 0 40 0 14 1 0 3 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 46 0 13 0 0 2 15
Illumina Laboratory Services, Illumina 0 15 0 3 4 0 8 15
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 8 0 9 0 0 5 14
Revvity Omics, Revvity 0 30 0 11 0 0 2 13
Natera, Inc. 0 47 0 10 0 0 3 13
Myriad Genetics, Inc. 0 21 0 6 1 0 4 11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 18 0 9 0 0 1 10
Fulgent Genetics, Fulgent Genetics 0 24 0 7 0 0 2 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 7 0 4 0 0 3 7
3billion 0 25 0 3 0 0 4 7
Institute of Human Genetics, University of Leipzig Medical Center 0 8 0 4 0 0 2 6
Pediatrics, All India Institute of Medical Sciences, New Delhi 0 0 0 0 0 5 0 5
Genetic Services Laboratory, University of Chicago 0 15 0 3 0 0 1 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 14 0 2 0 0 2 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 6 0 2 0 0 2 4
MGZ Medical Genetics Center 0 7 0 1 0 0 2 3
Centogene AG - the Rare Disease Company 0 10 0 2 0 0 1 3
Mendelics 0 11 0 1 0 0 2 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 10 0 1 0 0 2 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 4 0 2 0 0 1 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 0 2 0 0 1 3
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 9 0 1 0 0 2 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 4 0 1 1 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 1 0 0 1 2
GeneReviews 0 38 1 1 0 0 0 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 1 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 1 0 0 1 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 7 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 5 0 2 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 1 0 0 1 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 1 0 0 1 2
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 2 2
Reproductive Health Research and Development, BGI Genomics 0 3 0 1 0 0 1 2
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 2 0 1 0 0 1 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 4 0 0 0 0 1 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 5 0 0 0 0 1 1
GeneDx 0 1 0 0 0 1 0 1
King Laboratory, University of Washington 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 5 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 3 0 0 0 0 1 1
Sharing Clinical Reports Project (SCRP) 0 1 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 1 0 0 0 1
Blueprint Genetics 0 0 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
IIFP, CONICET-UNLP 0 2 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 1 0 1 0 0 0 1
Department of Genetics, Robert DEBRE University Hospital 0 0 0 1 0 0 0 1
Wellcome Centre for Mitochondrial Research, Newcastle University 0 0 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 1 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 0 0 0 0 0 1 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 5 0 1 0 0 0 1
Department of Internal Medicine, University of Texas Health Science Center at Houston 0 0 0 0 0 0 1 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 1 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 3 0 1 0 0 0 1
Dan Cohn Lab, University Of California Los Angeles 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 1 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 2 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 5 0 0 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
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 1 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 1 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 0 0 0 0 1 1
Clinical Genomics Program, Stanford Medicine 0 0 0 0 0 0 1 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 0 0 1 0 0 0 1
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 2 0 1 0 0 0 1
New York Genome Center 0 2 0 0 0 0 1 1
Ding PR Lab, Sun Yat-sen University Cancer Center 0 0 0 1 0 0 0 1
Paris Brain Institute, Inserm - ICM 0 0 0 1 0 0 0 1
Suma Genomics 0 3 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 0 0 0 0 1 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 0 1 0 0 0 1
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 0 0 0 1 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 203
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.73+9277T>C rs2435357 0.79636
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02726
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213 0.00591
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp) rs149636063 0.00032
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) rs149102421 0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His) rs147852216 0.00010
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) rs56010818 0.00008
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His) rs369091875 0.00008
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283 0.00007
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) rs758746181 0.00007
NM_014009.4(FOXP3):c.361C>T (p.His121Tyr) rs782640594 0.00007
NM_000038.6(APC):c.2527A>G (p.Ser843Gly) rs536223189 0.00006
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter) rs201707868 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_001077350.3(NPRL3):c.1162-2A>G rs756257487 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00004
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001414.4(EIF2B1):c.439C>T (p.Arg147Ter) rs370678173 0.00004
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000051.4(ATM):c.590G>A (p.Gly197Glu) rs753806542 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00003
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654 0.00003
NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg) rs755505546 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_024312.5(GNPTAB):c.3335+1G>A rs34940801 0.00003
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645 0.00002
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742 0.00002
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953 0.00002
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met) rs747082651 0.00002
NM_014946.4(SPAST):c.631G>A (p.Val211Ile) rs143003434 0.00002
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326 0.00001
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys) rs747506979 0.00001
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr) rs760106433 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962 0.00001
NM_000340.2(SLC2A2):c.775+1G>A rs756874949 0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg) rs1478665723 0.00001
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser) rs747805226 0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn) rs753051547 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_001006658.3(CR2):c.1613A>G (p.His538Arg) rs763755514 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter) rs128626249 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_005198.5(CHKB):c.940C>T (p.Arg314Cys) rs200919604 0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) rs574132670 0.00001
NM_006623.4(PHGDH):c.357-1G>A rs766427173 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_014795.4(ZEB2):c.385G>A (p.Ala129Thr) rs730881187 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_024884.3(L2HGDH):c.256+1G>A rs150299874 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn) rs1554032217
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg) rs104894548
NM_000051.4(ATM):c.6082del (p.Gln2028fs) rs1565499093
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met) rs1339426358
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg) rs1327361418
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.2122del (p.His708fs)
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000159.4(GCDH):c.1207C>T (p.His403Tyr) rs1599619080
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp) rs756345321
NM_000159.4(GCDH):c.881G>C (p.Arg294Pro) rs775606471
NM_000163.5(GHR):c.618+792A>G rs1011727375
NM_000199.5(SGSH):c.1130G>A (p.Arg377His) rs746037899
NM_000202.8(IDS):c.1006+1G>A rs869025308
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.692C>G (p.Pro231Arg) rs2089450305
NM_000202.8(IDS):c.908C>T (p.Ser303Phe) rs2124020665
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.200G>T (p.Gly67Val) rs63749939
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro) rs63750266
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000292.3(PHKA2):c.884G>A (p.Arg295His) rs797044877
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs) rs772390221
NM_000310.4(PPT1):c.532del (p.Glu178fs) rs878853325
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu) rs878853322
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg) rs863223405
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro) rs752177002
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.65_75+1del rs1382394474
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) rs1554615511
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly) rs1967935882
NM_000512.5(GALNS):c.121-7C>G rs1004936255
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu) rs746949976
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del) rs1389218771
NM_000520.6(HEXA):c.1349del (p.Ala450fs) rs1057519466
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) rs748190164
NM_000520.6(HEXA):c.637T>C (p.Tyr213His) rs1057519461
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001042492.3(NF1):c.2761G>A (p.Val921Met) rs567023433
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg) rs1060500344
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001101.5(ACTB):c.193C>T (p.Leu65Phe) rs281875332
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter) rs587777743
NM_001165963.4(SCN1A):c.602+1G>A
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser) rs749643952
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_015981.4(CAMK2A):c.884C>A (p.Ala295Asp)
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_017534.6(MYH2):c.4352del (p.Lys1451fs) rs757195322
NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs)
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs) rs281864996
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys)
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser) rs397514568
NM_206933.4(USH2A):c.5083del (p.Ser1695fs) rs1553300016

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