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 Variants with at least 2 submissions 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 kind of conflict
553 9 132 168 0 0 41 277

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
pathogenic 2 0 1 0 0
likely pathogenic 168 130 37 5 1

Submitter to submitter summary #

Total submitters: 43
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Counsyl 0 4 98 27 0 0 7 132
GeneDx 0 2 10 33 0 0 4 47
OMIM 0 7 0 46 0 0 0 46
Invitae 0 2 5 31 0 0 9 45
Integrated Genetics/Laboratory Corporation of America 0 2 15 19 0 0 0 34
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 2 3 17 0 0 8 28
Illumina Clinical Services Laboratory,Illumina 0 1 6 10 0 0 9 22
Genetic Services Laboratory, University of Chicago 0 0 4 9 0 0 0 13
UW Hindbrain Malformation Research Program,University of Washington 0 0 1 12 0 0 0 13
GeneReviews 0 2 2 9 0 0 0 11
SNPedia 0 1 0 9 0 0 0 9
Fulgent Genetics 0 1 3 4 0 0 0 7
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 4 0 0 2 7
Athena Diagnostics Inc 0 0 0 4 0 0 1 5
Ambry Genetics 0 0 1 1 0 0 1 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 0 0 3 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 1 2 0 0 0 3
Baylor Miraca Genetics Laboratories, 0 0 0 1 0 0 1 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 2 0 0 0 2
PreventionGenetics 0 0 0 0 0 0 2 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 1 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 0 0 1 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 0 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 1 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases,University of Cambridge 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 1 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 277
Download table as spreadsheet
HGVS dbSNP
NM_000027.3(AGA):c.102_108delGCCCTTT (p.Trp34Terfs) rs386833417
NM_000027.3(AGA):c.127_127+1insATGCGG (p.42_43insAspAla) rs386833418
NM_000027.3(AGA):c.200_201delAG (p.Glu67Alafs) rs386833420
NM_000027.3(AGA):c.299G>A (p.Gly100Glu) rs386833421
NM_000027.3(AGA):c.336delT (p.Ile112Metfs) rs386833422
NM_000027.3(AGA):c.373_376delACAC (p.Thr125Phefs) rs386833425
NM_000027.3(AGA):c.503G>A (p.Trp168Ter) rs386833430
NM_000027.3(AGA):c.677G>A (p.Gly226Asp) rs386833431
NM_000027.3(AGA):c.807_940del134 rs386833437
NM_000027.4(AGA):c.800dup (p.Pro268Alafs) rs386833436
NM_000100.3(CSTB):c.125C>A (p.Ser42Ter) rs386833439
NM_000100.3(CSTB):c.168G>A (p.Lys56=) rs386833440
NM_000100.3(CSTB):c.169-2A>G rs386833441
NM_000100.3(CSTB):c.218_219delTC (p.Leu73Profs) rs796943858
NM_000100.3(CSTB):c.66G>A (p.Gln22=) rs386833443
NM_000111.2(SLC26A3):c.2024_2026dupTCA (p.Ile675_Arg676insIle) rs121913031
NM_000111.2(SLC26A3):c.392C>G (p.Pro131Arg) rs386833481
NM_000112.3(SLC26A2):c.-26+2T>C rs386833492
NM_000112.3(SLC26A2):c.1394delT (p.Leu465Cysfs) rs386833495
NM_000112.3(SLC26A2):c.1650delG (p.Ser551Valfs) rs386833497
NM_000112.3(SLC26A2):c.1724delA (p.Lys575Serfs) rs386833498
NM_000112.3(SLC26A2):c.1976delT (p.Leu659Terfs) rs386833499
NM_000112.3(SLC26A2):c.55G>T (p.Gly19Ter) rs386833507
NM_000112.3(SLC26A2):c.700-1G>C rs200963884
NM_000145.3(FSHR):c.1760C>A (p.Pro587His) rs386833512
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1054delA (p.Thr352Glnfs) rs386833518
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) rs386833521
NM_000170.2(GLDC):c.1382G>A (p.Arg461Gln) rs386833524
NM_000170.2(GLDC):c.1786C>T (p.Arg596Ter) rs386833531
NM_000170.2(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.2(GLDC):c.2186delC (p.Ala729Glufs) rs386833543
NM_000170.2(GLDC):c.2203-2A>G rs386833545
NM_000170.2(GLDC):c.2267_2269delTCT (p.Phe756del) rs121964975
NM_000170.2(GLDC):c.2284G>A (p.Gly762Arg) rs386833550
NM_000170.2(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.2(GLDC):c.2311G>A (p.Gly771Arg) rs386833553
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000170.2(GLDC):c.2489C>T (p.Thr830Met) rs386833560
NM_000170.2(GLDC):c.2519T>A (p.Met840Lys) rs386833561
NM_000170.2(GLDC):c.2521G>C (p.Ala841Pro) rs386833562
NM_000170.2(GLDC):c.2607C>A (p.Pro869=) rs386833565
NM_000170.2(GLDC):c.2891dupA (p.Tyr964Terfs) rs386833572
NM_000170.2(GLDC):c.28delC (p.Leu10Cysfs) rs386833574
NM_000170.2(GLDC):c.2919+1G>A rs386833575
NM_000170.2(GLDC):c.793delC (p.Gln265Serfs) rs386833586
NM_000170.2(GLDC):c.806C>T (p.Thr269Met) rs386833587
NM_000170.2(GLDC):c.847G>C (p.Ala283Pro) rs386833589
NM_000274.3(OAT):c.1172G>A (p.Trp391Ter) rs386833596
NM_000274.3(OAT):c.1250C>T (p.Pro417Leu) rs121965044
NM_000274.3(OAT):c.1311G>T (p.Leu437Phe) rs1800456
NM_000274.3(OAT):c.159delC (p.His53Glnfs) rs386833599
NM_000274.3(OAT):c.192_193delAG (p.Gly65Lysfs) rs386833600
NM_000274.3(OAT):c.425_520del (p.Gly142_Ala173del) rs386833609
NM_000274.3(OAT):c.994G>A (p.Val332Met) rs121965047
NM_000310.3(PPT1):c.114delG (p.Trp38Cysfs) rs386833625
NM_000310.3(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.3(PPT1):c.169dupA (p.Met57Asnfs) rs386833634
NM_000310.3(PPT1):c.175delG (p.Glu59Argfs) rs386833635
NM_000310.3(PPT1):c.255_257delCTT (p.Phe85del) rs386833637
NM_000310.3(PPT1):c.272A>C (p.Gln91Pro) rs386833639
NM_000310.3(PPT1):c.287G>A (p.Cys96Tyr) rs386833640
NM_000310.3(PPT1):c.325T>G (p.Tyr109Asp) rs386833642
NM_000310.3(PPT1):c.398delT (p.Met133Argfs) rs386833644
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) rs386833646
NM_000310.3(PPT1):c.490C>T (p.Arg164Ter) rs386833649
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.536+1G>A rs386833651
NM_000310.3(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) rs386833655
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000310.3(PPT1):c.739T>C (p.Tyr247His) rs386833665
NM_000383.3(AIRE):c.1163_1164insA (p.Met388Ilefs) rs386833672
NM_000383.3(AIRE):c.1638A>T (p.Ter546Cys) rs386833673
NM_000383.3(AIRE):c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs) rs386833675
NM_000481.3(AMT):c.217C>T (p.Arg73Cys) rs386833679
NM_000481.3(AMT):c.230C>T (p.Ser77Leu) rs386833680
NM_000481.3(AMT):c.471+2T>C rs386833684
NM_000481.3(AMT):c.887G>A (p.Arg296His) rs386833690
NM_001042432.1(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_001042432.1(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_001042432.1(CLN3):c.1054C>T (p.Gln352Ter) rs386833697
NM_001042432.1(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_001042432.1(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_001042432.1(CLN3):c.1198-1G>T rs386833702
NM_001042432.1(CLN3):c.233dupG (p.Thr80Asnfs) rs386833712
NM_001042432.1(CLN3):c.379delC (p.Arg127Glyfs) rs386833717
NM_001042432.1(CLN3):c.424delG (p.Val142Leufs) rs386833720
NM_001042432.1(CLN3):c.533+1G>C rs386833728
NM_001042432.1(CLN3):c.558_559delAG (p.Gly187Aspfs) rs386833729
NM_001042432.1(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_001042432.1(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_001042432.1(CLN3):c.622dupT (p.Ser208Phefs) rs386833736
NM_001042432.1(CLN3):c.790+3A>C rs386833738
NM_001042432.1(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_001042432.1(CLN3):c.944dupA (p.His315Glnfs) rs386833740
NM_001080522.2(CC2D2A):c.1339delG (p.Ala447Argfs) rs386833745
NM_001080522.2(CC2D2A):c.2773C>T (p.Arg925Ter) rs386833748
NM_001080522.2(CC2D2A):c.3084delG (p.Lys1029Argfs) rs386833749
NM_001080522.2(CC2D2A):c.3289delG (p.Val1097Phefs) rs386833751
NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752
NM_001080522.2(CC2D2A):c.3774dupT (p.Glu1259Terfs) rs386833757
NM_001080522.2(CC2D2A):c.3975+4_3975+7delAGTA rs386833759
NM_001080522.2(CC2D2A):c.4179+1delG (p.Gly1394Valfs) rs386833760
NM_001080522.2(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763
NM_001080522.2(CC2D2A):c.685_687delGAA (p.Glu229del) rs386833764
NM_001080522.2(CC2D2A):c.834delG (p.Leu279Cysfs) rs386833765
NM_001081.3(CUBN):c.1865delC (p.Thr622Ilefs) rs386833771
NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs) rs386833794
NM_001126105.2(SLC7A7):c.1013G>A (p.Gly338Asp) rs386833795
NM_001126105.2(SLC7A7):c.1185_1188delTTCT (p.Ser396Leufs) rs386833800
NM_001126105.2(SLC7A7):c.1381_1384dupATCA (p.Arg462Asnfs) rs386833805
NM_001126105.2(SLC7A7):c.1460delG (p.Cys487Leufs) rs386833809
NM_001126105.2(SLC7A7):c.149T>A (p.Met50Lys) rs386833811
NM_001126105.2(SLC7A7):c.625+1G>A rs386833822
NM_001173990.2(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173991.2(TMEM216):c.230G>C (p.Gly77Ala) rs386833830
NM_001173991.2(TMEM216):c.341T>G (p.Leu114Arg) rs386833831
NM_001243473.2(B9D1):c.400+2T>C rs143149764
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_003332.3(TYROBP):c.141delG (p.Met48Trpfs) rs386833840
NM_004260.3(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844
NM_004260.3(RECQL4):c.1573delT (p.Cys525Alafs) rs386833845
NM_004260.3(RECQL4):c.2091T>G (p.Phe697Leu) rs386833850
NM_004260.3(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851
NM_004260.3(RECQL4):c.3072delA (p.Val1026Cysfs) rs386833852
NM_004328.4(BCS1L):c.-50+155T>A rs386833855
NM_004328.4(BCS1L):c.320+1G>T rs386833856
NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863
NM_004646.3(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865
NM_004646.3(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874
NM_004646.3(NPHS1):c.1234G>T (p.Gly412Cys) rs142008044
NM_004646.3(NPHS1):c.1275delC (p.Lys426Argfs) rs386833876
NM_004646.3(NPHS1):c.1307_1308dupAC (p.Val437Thrfs) rs386833878
NM_004646.3(NPHS1):c.1337T>A (p.Ile446Asn) rs386833879
NM_004646.3(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880
NM_004646.3(NPHS1):c.139delG (p.Ala47Profs) rs386833882
NM_004646.3(NPHS1):c.1481delC (p.Ser494Cysfs) rs386833883
NM_004646.3(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887
NM_004646.3(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889
NM_004646.3(NPHS1):c.1758-8_1785del rs386833891
NM_004646.3(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895
NM_004646.3(NPHS1):c.2071+2T>C rs386833901
NM_004646.3(NPHS1):c.2156_2163delTGCACTGC (p.Leu719Profs) rs386833903
NM_004646.3(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909
NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912
NM_004646.3(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915
NM_004646.3(NPHS1):c.2515delC (p.Gln839Argfs) rs386833918
NM_004646.3(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920
NM_004646.3(NPHS1):c.2783C>A (p.Ser928Ter) rs386833926
NM_004646.3(NPHS1):c.313G>A (p.Asp105Asn) rs386833932
NM_004646.3(NPHS1):c.319G>A (p.Ala107Thr) rs386833933
NM_004646.3(NPHS1):c.3250delG (p.Val1084Serfs) rs386833935
NM_004646.3(NPHS1):c.3250dupG (p.Val1084Glyfs) rs386833935
NM_004646.3(NPHS1):c.398-1G>A rs386833942
NM_004646.3(NPHS1):c.468C>G (p.Tyr156Ter) rs386833943
NM_004646.3(NPHS1):c.515_517delCCA (p.Thr172del) rs386833947
NM_004646.3(NPHS1):c.532C>T (p.Gln178Ter) rs386833951
NM_004646.3(NPHS1):c.534delG (p.Thr179Glnfs) rs386833952
NM_004646.3(NPHS1):c.609-2A>C rs386833955
NM_004646.3(NPHS1):c.614_621delCACCCCGGinsTT (p.Thr205_Arg207delinsIle) rs1555763603
NM_004646.3(NPHS1):c.736G>T (p.Glu246Ter) rs386833959
NM_004646.3(NPHS1):c.808G>T (p.Gly270Cys) rs386833961
NM_006493.2(CLN5):c.1071_1072delCT (p.Leu358Alafs) rs386833964
NM_006493.2(CLN5):c.1103_1106delAACA (p.Lys368Serfs) rs386833967
NM_006493.2(CLN5):c.1175_1176delAT (p.Tyr392Terfs) rs386833969
NM_006493.2(CLN5):c.433C>T (p.Arg145Ter) rs386833971
NM_006493.2(CLN5):c.524T>G (p.Leu175Ter) rs386833972
NM_006493.2(CLN5):c.613C>T (p.Pro205Ser) rs386833977
NM_006493.2(CLN5):c.669dupC (p.Trp224Leufs) rs386833979
NM_006493.2(CLN5):c.671G>A (p.Trp224Ter) rs386833980
NM_006493.2(CLN5):c.955_970del16 (p.Gly319Phefs) rs386833983
NM_007035.3(KERA):c.835C>T (p.Arg279Ter) rs386833986
NM_012434.4(SLC17A5):c.1007_1008delTA (p.Leu336Trpfs) rs386833987
NM_012434.4(SLC17A5):c.1138_1139delGT (p.Val380Serfs) rs386833988
NM_012434.4(SLC17A5):c.291G>A (p.Thr97=) rs386833990
NM_012434.4(SLC17A5):c.507delA (p.Leu170Terfs) rs386833992
NM_012434.4(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993
NM_012434.4(SLC17A5):c.802_816delTCATCATTAAGAAAT (p.Ser268_Asn272del) rs386833994
NM_015294.3(TRIM37):c.745C>T (p.Gln249Ter) rs386834005
NM_015294.4(TRIM37):c.1411C>T (p.Arg471Ter) rs386834001
NM_015294.4(TRIM37):c.860G>A (p.Ser287Asn) rs386834008
NM_017739.3(POMGNT1):c.1274G>C (p.Trp425Ser) rs386834011
NM_017739.3(POMGNT1):c.1285-2A>G rs386834012
NM_017739.3(POMGNT1):c.1350_1354delCTGGG (p.Trp451Alafs) rs386834015
NM_017739.3(POMGNT1):c.1539+1G>A rs138642840
NM_017739.3(POMGNT1):c.1719delC (p.His573Glnfs) rs386834017
NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018
NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019
NM_017739.3(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.3(POMGNT1):c.1876delG (p.Val626Serfs) rs386834022
NM_017739.3(POMGNT1):c.1895+1G>A rs386834024
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034
NM_017739.3(POMGNT1):c.652+1G>A rs386834035
NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039
NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336
NM_017739.3(POMGNT1):c.982dupG (p.Val328Glyfs) rs386834040
NM_017777.3(MKS1):c.1024+1G>A rs199874059
NM_017777.3(MKS1):c.1408-34_1408-6del29 rs386834043
NM_017777.3(MKS1):c.1450_1453dupGGCA (p.Thr485Argfs) rs386834044
NM_017777.3(MKS1):c.184_190delACTGCCA (p.Thr62Valfs) rs386834046
NM_017777.3(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017777.3(MKS1):c.472C>T (p.Arg158Ter) rs386834050
NM_017777.3(MKS1):c.515+1G>A rs201933838
NM_017777.3(MKS1):c.51_55dupCCGGG (p.Asp19Alafs) rs386834051
NM_017777.3(MKS1):c.80+2T>C rs386834052
NM_017777.3(MKS1):c.958G>A (p.Val320Ile) rs386834053
NM_017890.4(VPS13B):c.10156dupA (p.Thr3386Asnfs) rs386834055
NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter) rs386834057
NM_017890.4(VPS13B):c.11169_11172dupGGAC (p.Arg3725Glyfs) rs386834059
NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) rs386834061
NM_017890.4(VPS13B):c.11695_11698delAGTG (p.Ser3901Argfs) rs386834066
NM_017890.4(VPS13B):c.11825_11827dupATG (p.Asp3942_Gly3943insAsp) rs386834068
NM_017890.4(VPS13B):c.11906_11915delCCAGCTGTTC (p.Pro3969Leufs) rs386834069
NM_017890.4(VPS13B):c.11907dupC (p.Ser3970Glnfs) rs180177374
NM_017890.4(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_017890.4(VPS13B):c.1225G>T (p.Glu409Ter) rs386834071
NM_017890.4(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356
NM_017890.4(VPS13B):c.2727_2730dupGCTC (p.Asn911Alafs) rs180177357
NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078
NM_017890.4(VPS13B):c.292-2A>G rs386834079
NM_017890.4(VPS13B):c.2934+1_2934+2delGT rs180177358
NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080
NM_017890.4(VPS13B):c.4334delA (p.Gln1445Argfs) rs386834084
NM_017890.4(VPS13B):c.4411C>T (p.Arg1471Ter) rs386834086
NM_017890.4(VPS13B):c.4820+2T>C rs386834091
NM_017890.4(VPS13B):c.4878_4880dupATA (p.Tyr1627_Gln1961delinsTer) rs180177359
NM_017890.4(VPS13B):c.5086C>T (p.Arg1696Ter) rs386834093
NM_017890.4(VPS13B):c.5215_5232del (p.Ser1739_Gln1744del) rs180177362
NM_017890.4(VPS13B):c.5426_5427dupAG (p.Gln1810Serfs) rs180177363
NM_017890.4(VPS13B):c.5461dupC (p.Arg1821Profs) rs180177364
NM_017890.4(VPS13B):c.5809_5810delAT (p.Ile1937Cysfs) rs386834098
NM_017890.4(VPS13B):c.5827C>T (p.Arg1943Ter) rs386834099
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.6733-2A>G rs386834103
NM_017890.4(VPS13B):c.7504+1G>A rs386834106
NM_017890.4(VPS13B):c.8515C>T (p.Arg2839Ter) rs386834113
NM_017890.4(VPS13B):c.8697-9A>G rs386834116
NM_017890.4(VPS13B):c.916_917delGA (p.Asp306Tyrfs) rs386834117
NM_017890.4(VPS13B):c.9260dupT (p.Leu3087Phefs) rs180177329
NM_017890.4(VPS13B):c.9406-1G>T rs386834119
NM_018941.3(CLN8):c.181_183del (p.Lys61del) rs386834123
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.3(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_018941.3(CLN8):c.562_563delCT rs386834132
NM_018941.3(CLN8):c.611G>T (p.Arg204Leu) rs386834134
NM_018941.3(CLN8):c.661G>A (p.Gly221Ser) rs386834136
NM_018941.3(CLN8):c.66delG (p.Ile23Serfs) rs34238807
NM_018941.3(CLN8):c.88delG (p.Ala30Leufs) rs386834139
NM_018965.3(TREM2):c.40+3_40+5del rs386834142
NM_021830.4(TWNK):c.1366C>G (p.Leu456Val) rs386834145
NM_021830.4(TWNK):c.247C>T (p.Pro83Ser) rs386834147
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.1451delA (p.Lys484Argfs) rs386834149
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs) rs386834157
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_030943.3(AMN):c.1170-6C>T rs386834164
NM_030943.3(AMN):c.14delG (p.Gly5Alafs) rs386834168
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.5(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182
NM_153704.5(TMEM67):c.1413-1G>C rs386834185
NM_153704.5(TMEM67):c.1575+1G>A rs386834187
NM_153704.5(TMEM67):c.2322+2dupT rs386834192
NM_153704.5(TMEM67):c.2357G>A (p.Gly786Glu) rs386834193
NM_153704.5(TMEM67):c.383_384delAC (p.His128Leufs) rs386834200
NM_153704.5(TMEM67):c.579_580delAG (p.Gly195Ilefs) rs386834202
NM_153704.5(TMEM67):c.648delA (p.Val217Leufs) rs386834204
NM_153704.5(TMEM67):c.651+2T>G rs199821258
NM_153704.5(TMEM67):c.675G>A (p.Trp225Ter) rs386834205
NM_153704.5(TMEM67):c.870-2A>G rs386834207

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