ClinVar Miner

Variants from Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) with conflicting interpretations

Location: Finland  Primary collection method: not provided
Minimum review status of the submission from Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM): Collection method of the submission from Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM):
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
433 16 176 282 0 0 58 390

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
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 282 176 53 4 3

Submitter to submitter summary #

Total submitters: 67
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 0 18 129 0 0 21 168
Baylor Genetics 0 2 35 106 0 0 1 142
Counsyl 0 1 94 26 0 0 7 127
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 22 63 0 0 0 85
Natera, Inc. 0 2 12 61 0 0 9 82
OMIM 0 8 0 54 0 0 0 54
Fulgent Genetics, Fulgent Genetics 0 1 18 22 0 0 6 46
Revvity Omics, Revvity 0 0 8 17 0 0 3 28
Genome-Nilou Lab 0 1 4 19 0 0 2 25
Illumina Laboratory Services, Illumina 0 0 1 8 0 0 6 15
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 3 4 0 0 5 12
Mendelics 0 0 1 6 0 0 2 9
Myriad Genetics, Inc. 0 4 2 2 0 0 5 9
3billion 0 0 2 6 0 0 1 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 6 0 0 1 8
Genetic Services Laboratory, University of Chicago 0 0 2 4 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 3 0 0 2 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 3 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 2 2 0 0 2 6
Vasylyeva lab, Texas Tech University Health Sciences Center 0 0 1 4 0 0 1 6
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 5 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 0 2 2 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 3 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 2 0 0 2 4
Genetics and Molecular Pathology, SA Pathology 0 0 0 3 0 0 0 3
Genomics England Pilot Project, Genomics England 0 0 3 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 1 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 0 2 0 0 0 2
Sharon lab, Hadassah-Hebrew University Medical Center 0 0 1 1 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 2 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 2 0 0 0 2
New York Genome Center 0 0 1 1 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 0 2 0 0 0 2
DASA 0 0 1 1 0 0 0 2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 2 0 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 0 0 1 0 0 0 1
GeneReviews 0 13 0 1 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 2 0 0 0 0 1 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 0 0 1 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 0 1 0 0 0 1
Suma Genomics 0 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 390
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030943.4(AMN):c.1170-6C>T rs386834164 0.00296
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe) rs1800456 0.00054
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp) rs386833960 0.00019
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 0.00013
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988 0.00007
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680 0.00006
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter) rs386833808 0.00006
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915 0.00005
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993 0.00005
NM_000111.3(SLC26A3):c.2063-1G>T rs386833471 0.00004
NM_000111.3(SLC26A3):c.358G>A (p.Gly120Ser) rs386833479 0.00004
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg) rs386833553 0.00004
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met) rs386833560 0.00004
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010 0.00004
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980 0.00004
NM_007035.4(KERA):c.835C>T (p.Arg279Ter) rs386833986 0.00004
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336 0.00004
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser) rs386834136 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_032316.3(NICN1):c.*2328C>T rs386833677 0.00004
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182 0.00004
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431 0.00003
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter) rs386833517 0.00003
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000310.4(PPT1):c.529C>G (p.Gln177Glu) rs386833650 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690 0.00003
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter) rs386833807 0.00003
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887 0.00003
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979 0.00003
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430 0.00002
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro) rs386833589 0.00002
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr) rs386833640 0.00002
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His) rs386833695 0.00002
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697 0.00002
NM_003982.4(SLC7A7):c.1460del (p.Cys487fs) rs386833809 0.00002
NM_003982.4(SLC7A7):c.371T>C (p.Leu124Pro) rs386833814 0.00002
NM_003982.4(SLC7A7):c.545dup (p.Val183fs) rs386833818 0.00002
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874 0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880 0.00002
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912 0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 0.00002
NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter) rs386833953 0.00002
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971 0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990 0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992 0.00002
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078 0.00002
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) rs386834113 0.00002
NM_000027.4(AGA):c.395-8A>G rs386833426 0.00001
NM_000027.4(AGA):c.404T>C (p.Phe135Ser) rs386833427 0.00001
NM_000027.4(AGA):c.770C>T (p.Thr257Ile) rs386833434 0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436 0.00001
NM_000027.4(AGA):c.940+1G>T rs386833437 0.00001
NM_000111.3(SLC26A3):c.1136G>C (p.Gly379Ala) rs386833446 0.00001
NM_000111.3(SLC26A3):c.344del (p.Ile115fs) rs386833478 0.00001
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter) rs386833521 0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln) rs386833524 0.00001
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter) rs386833531 0.00001
NM_000170.3(GLDC):c.2186del (p.Ala729fs) rs386833543 0.00001
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys) rs386833544 0.00001
NM_000170.3(GLDC):c.2324A>G (p.His775Arg) rs386833555 0.00001
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556 0.00001
NM_000170.3(GLDC):c.2869T>C (p.Ser957Pro) rs386833571 0.00001
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter) rs386833572 0.00001
NM_000170.3(GLDC):c.2919+1G>A rs386833575 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn) rs386833598 0.00001
NM_000274.4(OAT):c.698A>G (p.Gln233Arg) rs386833615 0.00001
NM_000274.4(OAT):c.748C>T (p.Arg250Ter) rs386833617 0.00001
NM_000274.4(OAT):c.800C>T (p.Thr267Ile) rs386833618 0.00001
NM_000274.4(OAT):c.952G>A (p.Glu318Lys) rs386833621 0.00001
NM_000274.4(OAT):c.991C>T (p.Arg331Ter) rs386833623 0.00001
NM_000310.4(PPT1):c.124+1G>A rs386833628 0.00001
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro) rs386833639 0.00001
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp) rs386833642 0.00001
NM_000310.4(PPT1):c.3G>A (p.Met1Ile) rs386833645 0.00001
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter) rs386833649 0.00001
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys) rs386833655 0.00001
NM_000310.4(PPT1):c.628-1G>T rs386833659 0.00001
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro) rs386833661 0.00001
NM_000310.4(PPT1):c.739T>C (p.Tyr247His) rs386833665 0.00001
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672 0.00001
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) rs386833673 0.00001
NM_001042432.2(CLN3):c.1198-1G>T rs386833702 0.00001
NM_001042432.2(CLN3):c.125+5G>A rs386833704 0.00001
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709 0.00001
NM_001042432.2(CLN3):c.622dup (p.Ser208fs) rs386833736 0.00001
NM_001378615.1(CC2D2A):c.2486+1G>C rs386833747 0.00001
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763 0.00001
NM_003332.4(TYROBP):c.141del (p.Met48fs) rs386833840 0.00001
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter) rs386833798 0.00001
NM_003982.4(SLC7A7):c.1387del (p.Val463fs) rs386833806 0.00001
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His) rs386833861 0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu) rs386833867 0.00001
NM_004646.4(NPHS1):c.1481del (p.Ser494fs) rs386833883 0.00001
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser) rs386833884 0.00001
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889 0.00001
NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter) rs386833899 0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920 0.00001
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn) rs386833932 0.00001
NM_004646.4(NPHS1):c.320C>T (p.Ala107Val) rs386833934 0.00001
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter) rs386833951 0.00001
NM_004646.4(NPHS1):c.534del (p.Thr179fs) rs386833952 0.00001
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys) rs386833961 0.00001
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs) rs386833987 0.00001
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter) rs386834001 0.00001
NM_015294.6(TRIM37):c.227T>C (p.Leu76Pro) rs386834004 0.00001
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn) rs386834008 0.00001
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018 0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034 0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_018941.4(CLN8):c.209G>A (p.Arg70His) rs386834124 0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys) rs386834130 0.00001
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146 0.00001
NM_030943.4(AMN):c.1257+10C>T rs386834166 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs) rs386834059 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter) rs386834093 0.00001
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter) rs386834099 0.00001
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys) rs386834104 0.00001
NM_152564.5(VPS13B):c.7429+1G>A rs386834106 0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter) rs386834107 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter) rs386834112 0.00001
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer) rs386833417
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala42_Ala43insAspAla) rs386833418
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.299G>A (p.Gly100Glu) rs386833421
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
NM_000027.4(AGA):c.346C>T (p.Arg116Trp) rs386833423
NM_000027.4(AGA):c.373_376del (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000111.3(SLC26A3):c.1306C>T (p.Gln436Ter) rs386833448
NM_000111.3(SLC26A3):c.145_157del (p.Lys49fs) rs386833456
NM_000111.3(SLC26A3):c.1631T>A (p.Ile544Asn) rs386833467
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu) rs386833480
NM_000111.3(SLC26A3):c.392C>G (p.Pro131Arg) rs386833481
NM_000111.3(SLC26A3):c.392C>T (p.Pro131Leu) rs386833481
NM_000111.3(SLC26A3):c.571-1G>T rs386833485
NM_000112.4(SLC26A2):c.1394del (p.Leu465fs) rs386833495
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.4(SLC26A2):c.1976del (p.Phe658_Leu659insTer) rs386833499
NM_000145.4(FSHR):c.1760C>A (p.Pro587His) rs386833512
NM_000170.3(GLDC):c.1002dup (p.Ala335fs) rs386833516
NM_000170.3(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.3(GLDC):c.1444dup (p.Asp482fs) rs386833526
NM_000170.3(GLDC):c.1595C>G (p.Thr532Arg) rs386833527
NM_000170.3(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000170.3(GLDC):c.176G>C (p.Arg59Thr) rs386833530
NM_000170.3(GLDC):c.1832T>G (p.Val611Gly) rs386833533
NM_000170.3(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.3(GLDC):c.2203-2A>G rs386833545
NM_000170.3(GLDC):c.2267_2269del (p.Phe756del) rs121964975
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter) rs386833557
NM_000170.3(GLDC):c.245T>G (p.Leu82Trp) rs386833559
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys) rs386833561
NM_000170.3(GLDC):c.2521G>C (p.Ala841Pro) rs386833562
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val) rs386833566
NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter) rs386833567
NM_000170.3(GLDC):c.2838+5G>A rs386833568
NM_000170.3(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.3(GLDC):c.457G>T (p.Glu153Ter) rs386833579
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter) rs386833585
NM_000170.3(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu) rs386833595
NM_000274.4(OAT):c.1172G>A (p.Trp391Ter) rs386833596
NM_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000274.4(OAT):c.192_193del (p.Gly65fs) rs386833600
NM_000274.4(OAT):c.199+303C>G rs386833601
NM_000274.4(OAT):c.272G>A (p.Gly91Glu) rs386833603
NM_000274.4(OAT):c.425-4_429del rs386833609
NM_000274.4(OAT):c.472_486del (p.Tyr158_Gly162del) rs386833611
NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer) rs386833612
NM_000274.4(OAT):c.542C>T (p.Thr181Met) rs386833613
NM_000274.4(OAT):c.583G>T (p.Asp195Tyr) rs386833614
NM_000274.4(OAT):c.710G>A (p.Gly237Asp) rs386833616
NM_000274.4(OAT):c.952del (p.Glu318fs) rs386833620
NM_000274.4(OAT):c.994G>A (p.Val332Met) rs121965047
NM_000310.4(PPT1):c.114G>T (p.Trp38Cys) rs386833626
NM_000310.4(PPT1):c.114del (p.Trp38fs) rs386833625
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.4(PPT1):c.163A>T (p.Lys55Ter) rs386833633
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.4(PPT1):c.175del (p.Glu59fs) rs386833635
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del) rs386833637
NM_000310.4(PPT1):c.398del (p.Met133fs) rs386833644
NM_000310.4(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser) rs386833662
NM_000310.4(PPT1):c.727-2A>T rs386833664
NM_000310.4(PPT1):c.871C>T (p.Gln291Ter) rs386833668
NM_000310.4(PPT1):c.888G>A (p.Trp296Ter) rs386833670
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000481.4(AMT):c.434A>T (p.Asn145Ile) rs386833682
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.471+2T>C rs386833684
NM_000481.4(AMT):c.59del (p.Pro20fs) rs386833686
NM_000481.4(AMT):c.674A>G (p.Tyr225Cys) rs386833689
NM_000481.4(AMT):c.970_972del (p.Met324del) rs386833691
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs) rs386833692
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_001042432.2(CLN3):c.1056+3A>C rs386833698
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter) rs386833706
NM_001042432.2(CLN3):c.233dup (p.Thr80fs) rs386833712
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs) rs386833715
NM_001042432.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_001042432.2(CLN3):c.485C>G (p.Ser162Ter) rs386833725
NM_001042432.2(CLN3):c.533+1G>C rs386833728
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg) rs386833731
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_001042432.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter) rs386833737
NM_001042432.2(CLN3):c.790+3A>C rs386833738
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_001042432.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_001042432.2(CLN3):c.954_962+18del rs386833741
NM_001042432.2(CLN3):c.988G>T (p.Val330Phe) rs386833744
NM_001079866.2(BCS1L):c.-49-539T>A rs386833855
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs) rs386833794
NM_001173990.3(TMEM216):c.230G>C (p.Gly77Ala) rs386833830
NM_001173990.3(TMEM216):c.341T>G (p.Leu114Arg) rs386833831
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs) rs386833745
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs) rs386833836
NM_003982.4(SLC7A7):c.1013G>A (p.Gly338Asp) rs386833795
NM_003982.4(SLC7A7):c.106_108del (p.Glu36del) rs386833796
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs) rs386833800
NM_003982.4(SLC7A7):c.1273T>C (p.Cys425Arg) rs386833802
NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs) rs386833805
NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys) rs386833811
NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs) rs386833812
NM_003982.4(SLC7A7):c.254_255del (p.Phe85fs) rs386833813
NM_003982.4(SLC7A7):c.499+1G>A rs386833817
NM_003982.4(SLC7A7):c.622C>T (p.Gln208Ter) rs386833821
NM_003982.4(SLC7A7):c.625+1G>C rs386833822
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe) rs386833823
NM_003982.4(SLC7A7):c.894+1G>T rs386833827
NM_003982.4(SLC7A7):c.895-2A>G rs146582474
NM_003982.4(SLC7A7):c.998+1G>T rs386833828
NM_003982.4(SLC7A7):c.998G>T (p.Arg333Met) rs386833829
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter) rs137853230
NM_004646.3(NPHS1):c.1758-8_1785del rs386833891
NM_004646.4(NPHS1):c.-489GA[7] rs139954720
NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu) rs386833862
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864
NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys) rs142008044
NM_004646.4(NPHS1):c.1275del (p.Lys426fs) rs386833876
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn) rs386833879
NM_004646.4(NPHS1):c.1394G>A (p.Cys465Tyr) rs386833881
NM_004646.4(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg) rs386833892
NM_004646.4(NPHS1):c.2071+2T>C rs386833901
NM_004646.4(NPHS1):c.2072-6C>G rs200253809
NM_004646.4(NPHS1):c.2126T>G (p.Val709Gly) rs386833902
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs) rs386833903
NM_004646.4(NPHS1):c.2160dup (p.Cys721fs) rs386833904
NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs) rs386833906
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004646.4(NPHS1):c.248dup (p.Tyr83Ter) rs386833914
NM_004646.4(NPHS1):c.2515del (p.Gln839fs) rs386833918
NM_004646.4(NPHS1):c.2549_2558del (p.Ala850fs) rs386833919
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter) rs386833926
NM_004646.4(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys) rs143092783
NM_004646.4(NPHS1):c.3595-2A>G rs386833940
NM_004646.4(NPHS1):c.398-1G>A rs386833942
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter) rs386833943
NM_004646.4(NPHS1):c.479G>C (p.Cys160Ser) rs386833944
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.609-2A>C rs386833955
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) rs1555763603
NM_004646.4(NPHS1):c.736G>T (p.Glu246Ter) rs386833959
NM_006493.4(CLN5):c.144dup (p.Ser49fs) rs386833970
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) rs386833975
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro) rs386833976
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp) rs386833981
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.924_925del (p.Leu309fs) rs386833964
NM_006493.4(CLN5):c.936del (p.Phe312fs) rs386833966
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) rs386833968
NM_007035.4(KERA):c.1026del (p.Cys343fs) rs386833984
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu) rs386833989
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_015294.6(TRIM37):c.1346dup (p.Ser450fs) rs386834000
NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs) rs386834002
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter) rs386834003
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter) rs386834005
NM_015294.6(TRIM37):c.810-1G>A rs386834006
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs) rs386834007
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser) rs386834011
NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs) rs386834015
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.4(POMGNT1):c.1876del (p.Val626fs) rs386834022
NM_017739.4(POMGNT1):c.1895+1G>A rs386834024
NM_017739.4(POMGNT1):c.593del (p.Ser198fs) rs386834031
NM_017739.4(POMGNT1):c.652+1G>A rs386834035
NM_017739.4(POMGNT1):c.982dup (p.Val328fs) rs386834040
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.80+2T>C rs386834052
NM_018941.4(CLN8):c.181_183del (p.Lys61del) rs386834123
NM_018941.4(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.4(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_018941.4(CLN8):c.562_563del (p.Leu188fs) rs386834132
NM_018941.4(CLN8):c.66del (p.Ile23fs) rs34238807
NM_018941.4(CLN8):c.88del (p.Ala30fs) rs386834139
NM_018965.4(TREM2):c.40+4_40+6del rs386834142
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.180+2T>A rs386834150
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_030943.4(AMN):c.1006+34_1007-31del rs386834161
NM_030943.4(AMN):c.1314_1315del (p.His438fs) rs386834167
NM_030943.4(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.4(AMN):c.208-1G>C rs386834169
NM_030943.4(AMN):c.514-34G>A rs144077391
NM_030943.4(AMN):c.663G>A (p.Trp221Ter) rs386834174
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) rs386834054
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) rs386834058
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs) rs386834064
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) rs386834069
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) rs180177374
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_152564.5(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_152564.5(VPS13B):c.2651-1G>A rs386834077
NM_152564.5(VPS13B):c.292-2A>G rs386834079
NM_152564.5(VPS13B):c.2934+1_2934+2del rs180177358
NM_152564.5(VPS13B):c.3666+2T>C rs386834082
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs) rs386834084
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.5256dup (p.Asp1753Ter) rs386834094
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) rs180177363
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs) rs386834096
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.8622-2A>G rs386834115
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_153704.6(TMEM67):c.1575+1G>A rs386834187
NM_153704.6(TMEM67):c.2301del (p.Asp768fs) rs386834191
NM_153704.6(TMEM67):c.383_384del (p.His128fs) rs386834200
NM_153704.6(TMEM67):c.579del (p.Gly195fs) rs386834203
NM_153704.6(TMEM67):c.648del (p.Val217fs) rs386834204
NM_153704.6(TMEM67):c.870-2A>G rs386834207

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