ClinVar Miner

Variants from Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan with conflicting interpretations

Location: Argentina  Primary collection method: clinical testing
Minimum review status of the submission from Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan: Collection method of the submission from Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan:
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
1136 2251 1 260 19 9 19 298

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
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective
pathogenic 1 9 2 0 0 0 0 0
likely pathogenic 15 0 8 0 0 0 0 0
uncertain significance 2 1 0 1 1 0 0 0
benign 5 2 18 236 0 3 1 5

Submitter to submitter summary #

Total submitters: 62
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
Genetic Services Laboratory, University of Chicago 0 58 0 120 0 0 0 120
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 322 0 62 0 0 0 62
Breakthrough Genomics, Breakthrough Genomics 0 1906 0 43 0 0 0 43
Labcorp Genetics (formerly Invitae), Labcorp 0 363 0 10 1 0 6 17
GeneDx 0 2078 0 13 0 0 1 14
OMIM 0 9 0 2 1 6 5 14
Department of Pathology and Laboratory Medicine, Sinai Health System 0 6 0 0 12 0 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 140 0 10 0 0 0 10
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 5 0 9 0 0 0 9
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 4 2 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 829 0 6 0 0 0 6
Center for Bioinformatics, Peking University 0 8 0 4 0 0 0 4
Mendelics 0 5 0 3 1 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 47 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 3 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 224 0 3 0 0 0 3
Revvity Omics, Revvity 0 5 0 2 0 0 1 3
3billion 0 3 0 2 0 0 0 2
Baylor Genetics 0 3 0 1 0 0 1 2
CeGaT Center for Human Genetics Tuebingen 0 9 0 2 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 10 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 116 0 2 0 0 0 2
Clinical Genetics, Academic Medical Center 0 101 0 2 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 9 0 2 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 482 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 0 2 0 0 0 2
Ambry Genetics 0 3 0 0 0 0 1 1
Bioinformatics Institute, Agency for Science, Technology and Research 0 0 0 0 0 1 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 4 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 2 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 0 0 1 0 0 0 1
Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta 0 0 0 0 1 0 0 1
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 0 0 0 0 0 0 1 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 0 1 0 0 0 1
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 29 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 0 0 0 1 0 0 1
Dasa 0 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 1 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 197 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 165 0 1 0 0 0 1
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 2 0 0 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 1 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 0 1 0 0 0 1
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine 0 4 0 0 1 0 0 1
Genome-Nilou Lab 0 3 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 0 1
Houlden Lab, UCL Institute of Neurology 0 0 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 5 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 1 0 0 0 0 1
Institute of Clinical Molecular Biology, Kiel University 0 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 5 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 341 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 6 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 1 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 0 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 1 0 0 0 1
TilsonLab, Columbia University 0 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 298
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
NM_153460.4(IL17RC):c.920A>G (p.Gln307Arg) rs279549 0.99558
NM_001082971.2(DDC):c.49A>G (p.Met17Val) rs6264 0.99435
NM_001130438.3(SPTAN1):c.651+37A>C rs2297769 0.99407
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_001130438.3(SPTAN1):c.2560+43G>A rs4836615 0.96851
NM_001130438.3(SPTAN1):c.4905+41C>G rs7024498 0.96844
NM_016553.5(NUP62):c.1323T>C (p.Asp441=) rs892028 0.95154
NM_007327.4(GRIN1):c.1467+8G>A rs10747050 0.94915
NM_002221.4(ITPKB):c.1655C>A (p.Pro552Gln) rs708776 0.94873
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94614
NM_001130438.3(SPTAN1):c.6708-47G>A rs7866175 0.93246
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342 0.93139
NM_018344.6(SLC29A3):c.383+8A>G rs2243540 0.87580
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val) rs2487068 0.87306
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) rs2229960 0.86626
NM_018344.6(SLC29A3):c.714T>C (p.Thr238=) rs2252997 0.86524
NM_012301.4(MAGI2):c.3213G>A (p.Ser1071=) rs7812015 0.86488
NM_012301.4(MAGI2):c.3357A>G (p.Leu1119=) rs2074641 0.85789
NM_018344.6(SLC29A3):c.715G>A (p.Val239Ile) rs2252996 0.84172
NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=) rs1084004 0.83737
NM_016553.5(NUP62):c.648C>T (p.Ser216=) rs999583 0.81755
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=) rs1044394 0.80763
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) rs1044393 0.78554
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309 0.75219
NM_001358921.2(COQ2):c.744T>C (p.Asp248=) rs6535454 0.74903
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_000179.3(MSH6):c.3802-40C>G rs3136367 0.73398
NM_001130438.3(SPTAN1):c.2560+47C>T rs4837284 0.72327
NM_001130438.3(SPTAN1):c.6280-27C>T rs3737308 0.71634
NM_001289125.3(IFNAR2):c.541-50A>G rs2236757 0.70031
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.69145
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_001289125.3(IFNAR2):c.98-43T>C rs2834158 0.68230
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66695
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428 0.64398
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.63691
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.63302
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61804
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.61642
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61038
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) rs1800470 0.60129
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637 0.60091
NM_016816.4(OAS1):c.1039-1G>A rs10774671 0.60031
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala) rs891398 0.58886
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
NM_001278.5(CHUK):c.802G>A (p.Val268Ile) rs2230804 0.56266
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.56264
NM_015559.3(SETBP1):c.540+7405G>A rs663651 0.54347
NM_003331.5(TYK2):c.1669+7T>C rs280519 0.52527
NM_002221.4(ITPKB):c.1222T>G (p.Ser408Ala) rs6667260 0.52255
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910 0.50318
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895 0.49558
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49286
NM_015274.3(MAN2B2):c.958G>A (p.Val320Met) rs2301795 0.49092
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000448.3(RAG1):c.746A>G (p.His249Arg) rs3740955 0.48330
NM_016816.4(OAS1):c.484G>A (p.Gly162Ser) rs1131454 0.47874
NM_018344.6(SLC29A3):c.52A>G (p.Arg18Gly) rs2277257 0.47837
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.47275
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500 0.47043
NM_033004.4(NLRP1):c.3550A>G (p.Met1184Val) rs11651270 0.47015
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46878
NM_015274.3(MAN2B2):c.1336A>G (p.Met446Val) rs2301790 0.46827
NM_000433.4(NCF2):c.542A>G (p.Lys181Arg) rs2274064 0.45656
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_005223.4(DNASE1):c.731G>A (p.Arg244Gln) rs1053874 0.43995
NM_000416.3(IFNGR1):c.-56T>C rs2234711 0.42896
NM_001128148.3(TFRC):c.424G>A (p.Gly142Ser) rs3817672 0.42461
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397 0.40957
NM_006772.3(SYNGAP1):c.1713G>A (p.Ser571=) rs411136 0.40846
NM_015274.3(MAN2B2):c.728A>C (p.Gln243Pro) rs2301796 0.40657
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396 0.40465
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455 0.39963
NM_182476.3(COQ6):c.1216G>A (p.Val406Met) rs8500 0.39628
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39437
NM_000243.3(MEFV):c.1760-30T>A rs1231123 0.39404
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39210
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=) rs1806191 0.39095
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38234
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203 0.38227
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693 0.38055
NM_033004.4(NLRP1):c.3175G>A (p.Val1059Met) rs2301582 0.36823
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_001366385.1(CARD14):c.1641G>C (p.Arg547Ser) rs2066964 0.35511
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.34812
NM_016553.5(NUP62):c.848G>C (p.Ser283Thr) rs1062798 0.34391
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806 0.33435
NM_033004.4(NLRP1):c.464T>A (p.Leu155His) rs12150220 0.33261
NM_000569.8(FCGR3A):c.526T>G (p.Phe176Val) rs396991 0.32987
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_012301.4(MAGI2):c.1014G>A (p.Lys338=) rs3735442 0.32833
NM_001006658.3(CR2):c.1987T>C (p.Ser663Pro) rs4308977 0.32718
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val) rs506121 0.32420
NM_181523.3(PIK3R1):c.334+14A>C rs706714 0.31742
NM_000565.4(IL6R):c.1073A>C (p.Asp358Ala) rs2228145 0.31732
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) rs211037 0.31557
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31538
NM_001006658.3(CR2):c.2012G>A (p.Arg671His) rs17616 0.30700
NM_182476.3(COQ6):c.570T>C (p.His190=) rs3180946 0.30516
NM_001006658.3(CR2):c.1916G>A (p.Ser639Asn) rs17615 0.30264
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_025000.4(DCAF17):c.150C>T (p.Val50=) rs6751956 0.28531
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=) rs2229193 0.27838
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27663
NM_153218.4(LACC1):c.760A>G (p.Ile254Val) rs3764147 0.26968
NM_000074.3(CD40LG):c.410-13T>C rs3092923 0.26957
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=) rs1805482 0.26553
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg) rs11575934 0.25155
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064 0.25071
NM_006282.5(STK4):c.934G>A (p.Val312Met) rs17420378 0.25016
NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser) rs10970979 0.24995
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201 0.24515
NM_007327.4(GRIN1):c.789A>G (p.Pro263=) rs6293 0.23665
NM_007327.4(GRIN1):c.855G>A (p.Val285=) rs1126442 0.23307
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.23125
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
NM_001358921.2(COQ2):c.840C>T (p.Ser280=) rs1129617 0.22636
NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) rs34436714 0.22387
NM_001130438.3(SPTAN1):c.5479-41A>C rs7864187 0.22215
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_006384.4(CIB1):c.87-84C>T rs4451921 0.20932
NM_001364905.1(LRBA):c.8077G>A (p.Ala2693Thr) rs3749574 0.20925
NM_000270.4(PNP):c.151G>A (p.Gly51Ser) rs1049564 0.20682
NM_002184.4(IL6ST):c.442G>C (p.Gly148Arg) rs2228044 0.20682
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20531
NM_080424.4(SP110):c.617C>T (p.Ala206Val) rs28930679 0.20467
NM_198282.4(STING1):c.878G>A (p.Arg293Gln) rs7380824 0.20123
NM_025000.4(DCAF17):c.999A>G (p.Gln333=) rs3731983 0.19825
NM_198282.4(STING1):c.689G>C (p.Gly230Ala) rs78233829 0.19776
NM_025000.4(DCAF17):c.1267-7C>T rs3731981 0.19769
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19324
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19109
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18737
NM_002221.4(ITPKB):c.518G>A (p.Arg173His) rs3754415 0.18671
NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu) rs2290846 0.18590
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_002184.4(IL6ST):c.1189C>G (p.Leu397Val) rs2228043 0.18173
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590 0.18089
NM_015192.4(PLCB1):c.102C>T (p.Asp34=) rs16994453 0.18027
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17770
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser) rs2066842 0.17678
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=) rs2565061 0.17492
NM_002633.3(PGM1):c.*93A>C rs4643 0.17395
NM_002633.3(PGM1):c.*22C>T rs8294 0.17388
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.16987
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=) rs1805247 0.16667
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_002796.3(PSMB4):c.701T>C (p.Ile234Thr) rs4603 0.15717
NM_000314.8(PTEN):c.-511G>A rs12573787 0.15371
NM_018129.4(PNPO):c.165C>T (p.Ser55=) rs11079804 0.14534
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile) rs2472553 0.14475
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_002691.4(POLD1):c.463+8G>T rs1726802 0.13968
NC_000015.10:g.34343168A>G rs2169480 0.13873
NM_198282.4(STING1):c.212G>A (p.Arg71His) rs11554776 0.13741
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) rs2287498 0.13667
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_006904.7(PRKDC):c.10301T>C (p.Ile3434Thr) rs7830743 0.13283
NM_000179.3(MSH6):c.260+22C>G rs55927047 0.13136
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_148919.4(PSMB8):c.145C>A (p.Gln49Lys) rs2071543 0.12793
NM_001364905.1(LRBA):c.3269C>G (p.Ala1090Gly) rs1782360 0.12638
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016 0.11927
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_020070.4(IGLL1):c.443C>T (p.Thr148Ile) rs73157031 0.11402
NM_203447.4(DOCK8):c.187G>A (p.Asp63Asn) rs3209441 0.11324
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) rs8177374 0.10946
NM_000081.4(LYST):c.2355T>C (p.Leu785=) rs3768066 0.10928
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10674
NM_001141945.3(ACTA2):c.-24+1440C>T rs2234767 0.10602
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10598
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_004369.4(COL6A3):c.9213C>T (p.His3071=) rs2270671 0.10105
NM_022168.4(IFIH1):c.1379A>G (p.His460Arg) rs10930046 0.09666
NM_001611.5(ACP5):c.442G>A (p.Val148Met) rs2305799 0.09611
NM_015192.4(PLCB1):c.1251-4T>G rs2076689 0.09450
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=) rs75579703 0.09434
NM_000744.7(CHRNA4):c.189C>T (p.Leu63=) rs2273506 0.09394
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09239
NM_001289125.3(IFNAR2):c.23T>C (p.Phe8Ser) rs2229207 0.08893
NM_001611.5(ACP5):c.598G>A (p.Val200Met) rs2229531 0.08701
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417 0.08598
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08157
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val) rs3733319 0.08054
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_198904.4(GABRG2):c.315C>T (p.Asn105=) rs11135176 0.07676
NM_016128.4(COPG1):c.718C>G (p.Leu240Val) rs62266876 0.07638
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.06953
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06931
NM_006397.3(RNASEH2A):c.605T>C (p.Leu202Ser) rs7247284 0.06918
NM_001366385.1(CARD14):c.1753G>A (p.Val585Ile) rs34367357 0.06519
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_003721.4(RFXANK):c.144G>C (p.Glu48Asp) rs34282046 0.04540
NM_002485.5(NBN):c.896+36G>A rs1805826 0.03920
NM_022168.4(IFIH1):c.2808-75G>T rs3761652 0.03489
NM_022168.4(IFIH1):c.1524+90G>A rs16846555 0.03482
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02833
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904 0.02756
NM_001165963.4(SCN1A):c.4338+74C>T rs4305294 0.02157
NM_006904.7(PRKDC):c.6346-105A>G rs8178148 0.01827
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01480
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_002221.4(ITPKB):c.220G>A (p.Gly74Ser) rs77775944 0.01256
NM_002221.4(ITPKB):c.964G>A (p.Ala322Thr) rs3754413 0.01254
NM_005356.5(LCK):c.134G>A (p.Arg45Gln) rs145088108 0.01058
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00731
NM_005419.4(STAT2):c.1343C>T (p.Thr448Met) rs2066815 0.00654
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00040
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00021
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys) rs766910280 0.00004
NM_001371596.2(MFSD8):c.864-1G>A rs571950296 0.00003
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala) rs553128312 0.00002
NM_006516.4(SLC2A1):c.1454C>T (p.Pro485Leu) rs1159593580 0.00001
NM_130837.3(OPA1):c.2960G>A (p.Arg987His) rs1160551128 0.00001
NC_012920.1(MT-TY):m.5888del rs118203892
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1236-3dup rs34325032
NM_000051.4(ATM):c.2922-8del rs373881770
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.6573-42del rs11366542
NM_000051.4(ATM):c.6573-43_6573-42del rs11366542
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.3646+35_3646+38del rs1805181
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1961T>A (p.Val654Glu) rs769113950
NM_000321.3(RB1):c.1964A>G (p.Tyr655Cys) rs774196937
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000834.5(GRIN2B):c.1806C>T (p.Ile602=) rs1805522
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) rs1553923787
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys) rs796053367
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His) rs796053374
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del) rs16054
NM_001128148.3(TFRC):c.1678-5_1678-4inv
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter) rs397514459
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro) rs1553525337
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro) rs794726821
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001182.5(ALDH7A1):c.1072C>T (p.Arg358Ter) rs768233031
NM_001182.5(ALDH7A1):c.979G>A (p.Gly327Ser) rs1554099008
NM_001195248.2(APTX):c.484-13_484-12delinsTG rs1064794547
NM_001197104.2(KMT2A):c.5961+37del rs57102960
NM_001261826.3(AP3D1):c.593-18_593-17delinsCG rs374386030
NM_001282225.2(ADA2):c.1004A>G (p.His335Arg) rs2231495
NM_001289125.3(IFNAR2):c.28T>G (p.Phe10Val) rs1051393
NM_001291415.2(KDM6A):c.2859-5del rs10605935
NM_001372051.1(CASP8):c.595+133del rs397826156
NM_002397.5(MEF2C):c.1A>G (p.Met1Val) rs1432291994
NM_002800.5(PSMB9):c.179G>A (p.Arg60His) rs17587
NM_003560.4(PLA2G6):c.1797C>G (p.Phe599Leu) rs1555979298
NM_003661.4(APOL1):c.188-14T>G rs136163
NM_003808.4(TNFSF13):c.199G>A (p.Gly67Arg) rs11552708
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_005548.3(KARS1):c.223-23dup rs370077957
NM_006846.4(SPINK5):c.2667-13delinsTT rs1554106953
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_022089.4(ATP13A2):c.3235+44_3235+55del rs143483351
NM_022168.4(IFIH1):c.1095+98_1095+102del rs141134657
NM_033004.4(NLRP1):c.3550_3551delinsGC (p.Met1184Ala) rs2151743088
NM_139276.3(STAT3):c.468+58del rs397712608
NM_152468.5(TMC8):c.*5T>G rs369764
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_177438.3(DICER1):c.2698dup (p.Ile900fs) rs2140020024
NM_177438.3(DICER1):c.2987+1G>A rs1555370248
NM_177438.3(DICER1):c.3269+1G>A rs1595370466

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