ClinVar Miner

Variants from UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill: Collection method of the submission from UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill:
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
194 112 1 88 41 5 24 146

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
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill pathogenic likely pathogenic uncertain significance likely benign benign affects pathogenic, low penetrance
pathogenic 1 31 5 0 1 0 3
likely pathogenic 56 0 7 1 1 0 1
uncertain significance 5 8 0 32 13 1 0
likely benign 0 0 0 0 1 0 0

Submitter to submitter summary #

Total submitters: 89
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
Labcorp Genetics (formerly Invitae), Labcorp 0 110 0 33 35 4 6 78
OMIM 0 38 0 17 0 0 1 18
Ambry Genetics 0 36 0 5 8 0 4 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 37 0 13 1 0 2 16
Baylor Genetics 0 45 0 10 0 0 0 10
Natera, Inc. 0 42 0 8 1 0 1 10
Revvity Omics, Revvity 0 26 0 7 0 0 2 9
Illumina Laboratory Services, Illumina 0 31 0 8 0 0 1 9
Fulgent Genetics, Fulgent Genetics 0 31 0 8 0 0 0 8
3billion 0 10 0 7 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 21 0 5 1 0 0 6
Counsyl 0 6 0 5 0 0 1 6
Mendelics 0 17 0 4 0 0 1 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 8 0 5 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 9 0 4 0 0 1 5
Yale Center for Mendelian Genomics, Yale University 0 3 0 4 0 0 1 5
Genome-Nilou Lab 0 14 0 4 0 0 1 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 22 0 3 0 0 1 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 16 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 7 0 1 1 0 1 3
GeneDx 0 7 0 1 1 0 1 3
MGZ Medical Genetics Center 0 16 0 3 0 0 0 3
CeGaT Center for Human Genetics Tuebingen 0 3 0 0 2 0 1 3
Institute of Human Genetics, University of Leipzig Medical Center 0 12 0 2 0 0 1 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 13 0 2 0 1 0 3
Myriad Genetics, Inc. 0 25 0 3 0 0 0 3
All of Us Research Program, National Institutes of Health 0 2 0 2 0 0 1 3
PreventionGenetics, part of Exact Sciences 0 6 0 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 3 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 1 0 0 1 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 1 0 0 1 2
Color Diagnostics, LLC DBA Color Health 0 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 12 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 4 0 1 0 0 1 2
Reproductive Health Research and Development, BGI Genomics 0 5 0 2 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 0 2 0 1 0 0 1 2
Molecular Genetics, Royal Melbourne Hospital 0 3 0 1 0 0 1 2
Genetic Services Laboratory, University of Chicago 0 14 0 1 0 0 0 1
King Laboratory, University of Washington 0 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 2 0 0 0 0 1 1
Elsea Laboratory, Baylor College of Medicine 0 1 0 0 0 0 1 1
Institute of Human Genetics, Cologne University 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 4 0 1 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 3 0 1 0 0 0 1
GeneReviews 0 28 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 2 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 8 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 7 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 19 0 1 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 1 0 1 0 0 0 1
Centre for Genomic and Experimental Medicine, University of Edinburgh 0 1 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 0 1 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 1 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 3 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 1 0 0 0 1
Fundacion Hipercolesterolemia Familiar 0 0 0 1 0 0 0 1
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital 0 2 0 1 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 0 1 0 0 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 8 0 0 1 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 7 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 5 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 5 0 1 0 0 0 1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 4 0 1 0 0 0 1
New York Genome Center 0 5 0 1 0 0 0 1
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Lifecell International Pvt. Ltd 0 2 0 0 0 0 1 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 3 0 1 0 0 0 1
Paris Brain Institute, Inserm - ICM 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
DASA 0 8 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 0 1 0 0 0 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 0 0 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 0 0 0 1 0 0 0 1
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 0 1 0 1 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 1 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 1 0 0 1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 0 0 0 0 0 0 1 1
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 146
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_004998.4(MYO1E):c.1593C>G (p.Ile531Met) rs140447165 0.00815
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_003114.5(SPAG1):c.2265A>T (p.Lys755Asn) rs148883126 0.00138
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_001277115.2(DNAH11):c.2783A>T (p.Asp928Val) rs201386161 0.00089
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys) rs144018942 0.00080
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg) rs138838276 0.00072
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00067
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00059
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_001277115.2(DNAH11):c.8093T>C (p.Leu2698Ser) rs187533108 0.00053
NM_181426.2(CCDC39):c.1167+1261A>G rs577069249 0.00051
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala) rs140227610 0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_001277115.2(DNAH11):c.11884G>A (p.Val3962Met) rs199719583 0.00037
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_001256715.2(DNAAF3):c.705C>G (p.Asp235Glu) rs371668705 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_001930.4(DHPS):c.1014+1G>A rs142633494 0.00028
NM_213607.3(CCDC103):c.473C>T (p.Ala158Val) rs148834205 0.00028
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe) rs151287187 0.00025
NM_001277115.2(DNAH11):c.9907A>G (p.Ile3303Val) rs376875223 0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp) rs201944089 0.00022
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211 0.00020
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu) rs373946181 0.00016
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_001277115.2(DNAH11):c.12796T>A (p.Phe4266Ile) rs186358036 0.00011
NM_001277115.2(DNAH11):c.6118C>T (p.Arg2040Cys) rs199772877 0.00011
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys) rs149609746 0.00011
NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser) rs373264146 0.00011
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_001277115.2(DNAH11):c.11678C>T (p.Thr3893Met) rs763843747 0.00010
NM_001277115.2(DNAH11):c.2500G>A (p.Val834Met) rs368578923 0.00010
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala) rs143074036 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_001369.3(DNAH5):c.7741A>G (p.Lys2581Glu) rs142302585 0.00006
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp) rs187225056 0.00006
NM_001369.3(DNAH5):c.12473G>A (p.Arg4158Gln) rs376927687 0.00005
NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu) rs752010216 0.00005
NM_001369.3(DNAH5):c.8726G>A (p.Arg2909His) rs756069405 0.00004
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter) rs926347298 0.00004
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_001010892.3(RSPH4A):c.1490dup (p.Ser498fs) rs762267064 0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889 0.00003
NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter) rs201213030 0.00003
NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp) rs201173498 0.00003
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185 0.00002
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) rs749798053 0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495 0.00001
NM_001034853.2(RPGR):c.1763A>G (p.Glu588Gly) rs1222240619 0.00001
NM_001034853.2(RPGR):c.2135A>G (p.Gln712Arg) rs749852225 0.00001
NM_001038603.3(MARVELD2):c.1183-1G>A rs200781822 0.00001
NM_001277115.2(DNAH11):c.3173C>A (p.Ala1058Asp) rs756753955 0.00001
NM_001277115.2(DNAH11):c.6983+1G>A rs771953930 0.00001
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500 0.00001
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter) rs760104757 0.00001
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) rs758112779 0.00001
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg) rs1428534050 0.00001
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter) rs769260126 0.00001
NM_001369.3(DNAH5):c.7573G>A (p.Gly2525Arg) rs771328747 0.00001
NM_003482.4(KMT2D):c.6314G>A (p.Arg2105His) rs772506992 0.00001
NM_006941.4(SOX10):c.482G>A (p.Arg161His) rs750566714 0.00001
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter) rs1713700813 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val) rs1559480099
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000553.6(WRN):c.561A>G (p.Lys187=) rs775802030
NM_001001548.3(CD36):c.787_808del (p.Val263fs) rs754365623
NM_001010892.3(RSPH4A):c.1690del (p.Gln564fs) rs1775758975
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del) rs746535151
NM_001190787.3(MCIDAS):c.1004T>A (p.Leu335Ter) rs1291689114
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001206927.2(DNAH8):c.12100C>T (p.Leu4034Phe) rs146505940
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001277115.2(DNAH11):c.13184G>A (p.Arg4395Gln) rs368249392
NM_001277115.2(DNAH11):c.4095+2C>A rs532007878
NM_001277115.2(DNAH11):c.7525G>A (p.Val2509Ile) rs1259559217
NM_001369.3(DNAH5):c.12709G>T (p.Val4237Phe) rs138045391
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.1602C>A (p.Asp534Glu) rs753367747
NM_001369.3(DNAH5):c.5582A>C (p.Gln1861Pro) rs780320440
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs) rs767779749
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003401.5(XRCC4):c.25del (p.His9fs) rs869320677
NM_004380.3(CREBBP):c.283G>A (p.Val95Met) rs756802946
NM_004646.4(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_017950.4(CCDC40):c.2660dup (p.Asn887fs) rs1567811487
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs) rs1567818236
NM_018238.4(AGK):c.523_524del (p.Ile175fs) rs1228071168
NM_022464.5(SIL1):c.645+2T>C
NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr) rs1457494794
NM_024757.5(EHMT1):c.2839G>A (p.Ala947Thr) rs797045555
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter) rs2034938852
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367

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