ClinVar Miner

Variants from ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel with conflicting interpretations

Location: United States  Primary collection method: curation
Minimum review status of the submission from ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel: Collection method of the submission from ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel:
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
78 210 0 221 26 0 61 284

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
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 116 7 0 0
likely pathogenic 90 0 22 0 0
uncertain significance 12 31 0 15 1
likely benign 0 0 10 0 9
benign 0 0 1 6 0

Submitter to submitter summary #

Total submitters: 41
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 0 295 0 88 18 0 30 136
Counsyl 0 50 0 75 0 0 14 89
Natera, Inc. 0 237 0 25 7 0 14 46
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 98 0 32 4 0 9 45
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 121 0 32 0 0 12 44
Baylor Genetics 0 134 0 24 0 0 9 33
Fulgent Genetics, Fulgent Genetics 0 117 0 19 1 0 12 32
Genome-Nilou Lab 0 49 0 7 7 0 10 24
Illumina Laboratory Services, Illumina 0 45 0 3 8 0 0 11
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 6 0 5 0 0 1 6
Myriad Genetics, Inc. 0 19 0 5 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 5 0 4 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 22 0 2 1 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 5 0 1 0 0 2 3
3billion 0 12 0 2 0 0 0 2
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 0 0 0 1 0 0 1 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 1 0 0 1 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 2 0 0 0 2
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 1 0 1 0 0 1 2
Dubai Health Genomic Medicine Center, Dubai Health 0 2 0 1 0 0 1 2
Lildballe Lab, Aarhus University Hospital 0 0 0 0 0 0 2 2
Mendelics 0 3 0 2 0 0 0 2
Arcensus 0 2 0 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 2 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 0 3 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 5 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 13 0 1 0 0 0 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 4 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 1 0 0 0 1
Medical Genetic Department, Shiraz University Of Medical Science 0 1 0 1 0 0 0 1
Molecular Therapies Laboratory, Murdoch University 0 4 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 6 0 1 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1 1
OMIM 0 7 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Tehran Medical Genetics Laboratory 0 0 0 1 0 0 0 1
Variantyx, Inc. 0 8 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 284
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65654
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00616
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00380
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg) rs148946496 0.00289
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339 0.00193
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896 0.00162
NM_000203.5(IDUA):c.493+10C>T rs200000194 0.00139
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00089
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074 0.00058
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324 0.00036
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336 0.00035
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00031
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192 0.00020
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894 0.00018
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502 0.00017
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666 0.00017
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016 0.00014
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00007
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036 0.00007
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165 0.00005
NM_000152.5(GAA):c.1437+19G>A rs746904197 0.00005
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00005
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00005
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly) rs371397270 0.00005
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000203.5(IDUA):c.536C>T (p.Thr179Met) rs776098539 0.00004
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00003
NM_000152.5(GAA):c.1326+1G>A rs1205507761 0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.2799+4A>G rs778032599 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu) rs772416503 0.00003
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960 0.00003
NM_000152.5(GAA):c.1076-22T>G rs762260678 0.00002
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383 0.00002
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090 0.00002
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu) rs753483808 0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999 0.00002
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) rs552929702 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896 0.00002
NM_000203.5(IDUA):c.1727+4C>T rs1202966289 0.00002
NM_000203.5(IDUA):c.216C>G (p.Leu72=) rs1174720330 0.00002
NM_000152.5(GAA):c.-32-3C>A rs1055945806 0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238 0.00001
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly) rs886042961 0.00001
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) rs996798292 0.00001
NM_000152.5(GAA):c.1327-2A>G rs1410829147 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn) rs748047271 0.00001
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937 0.00001
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) rs201185475 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727 0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029 0.00001
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) rs914396317 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) rs763456921 0.00001
NM_000152.5(GAA):c.1962_1964del (p.Glu656del) rs1030961946 0.00001
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467 0.00001
NM_000152.5(GAA):c.2040+1G>T rs1057516928 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191 0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892 0.00001
NM_000152.5(GAA):c.2706del (p.Lys903fs) rs1428358278 0.00001
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) rs1403885484 0.00001
NM_000152.5(GAA):c.316C>T (p.Arg106Cys) rs915675670 0.00001
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661 0.00001
NM_000152.5(GAA):c.437del (p.Met146fs) rs1555598869 0.00001
NM_000152.5(GAA):c.615G>A (p.Pro205=) rs141427808 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219 0.00001
NM_000152.5(GAA):c.692+5G>T rs763027848 0.00001
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) rs1555599667 0.00001
NM_000152.5(GAA):c.842G>A (p.Arg281Gln) rs772607616 0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) rs773417785 0.00001
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960 0.00001
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) rs754949360 0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896 0.00001
NM_000203.5(IDUA):c.1402+1G>T rs398123254 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg) rs1715216061 0.00001
NM_000203.5(IDUA):c.1771G>A (p.Ala591Thr) rs398123257 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys) rs754154200 0.00001
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529 0.00001
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser) rs886042960
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu) rs730880022
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs) rs1567829962
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) rs1064796703
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg) rs755253527
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro) rs2039149745
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter) rs786204517
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1192dup (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1239C>G (p.Asp413Glu) rs2039158556
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) rs1555600235
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro) rs2143866454
NM_000152.5(GAA):c.1408_1410del (p.Asn470del) rs748893499
NM_000152.5(GAA):c.1431del (p.Ile477fs) rs1598580364
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-2A>G rs1555600730
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg) rs2039212985
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu) rs2039212985
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly) rs1598581682
NM_000152.5(GAA):c.1562A>T (p.Glu521Val) rs1455277014
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs) rs1291214871
NM_000152.5(GAA):c.1579del (p.Arg527fs) rs2039222879
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663
NM_000152.5(GAA):c.1642G>T (p.Val548Phe) rs1567834141
NM_000152.5(GAA):c.1645G>C (p.Gly549Arg)
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter) rs1057516426
NM_000152.5(GAA):c.1692del (p.Leu565fs) rs1555601234
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1716C>G (p.His572Gln) rs772962666
NM_000152.5(GAA):c.1722C>T (p.Leu574=) rs561357893
NM_000152.5(GAA):c.1754+2T>C rs2143884018
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.1781G>A (p.Arg594His) rs775450536
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1819_1836del (p.Gly607_His612del) rs1555601409
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs) rs1057516826
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1847dup (p.Asp616fs) rs1475559733
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) rs1414146587
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs) rs748829376
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe) rs1265892085
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter) rs776948121
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.1952del (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.1A>T (p.Met1Leu) rs786204467
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2015G>T (p.Arg672Leu) rs778418246
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) rs398123172
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) rs1555601773
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs) rs1555601780
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2189+3G>C rs2143897458
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter) rs1057516327
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2238G>T (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter) rs1057516363
NM_000152.5(GAA):c.2242del (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2300del (p.Phe767fs) rs1555602692
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg) rs1555602703
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) rs1555598687
NM_000152.5(GAA):c.2456G>C (p.Arg819Pro) rs374687883
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2544del (p.Lys849fs) rs398123173
NM_000152.5(GAA):c.258del (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2646+2T>A rs786204561
NM_000152.5(GAA):c.2646+2T>G rs786204561
NM_000152.5(GAA):c.2647-20T>G rs1555603208
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter) rs1057516341
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter) rs1555603264
NM_000152.5(GAA):c.2740dup (p.Gln914fs) rs745427943
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.2799+2C>A rs1555603318
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503
NM_000152.5(GAA):c.342del (p.Lys114fs) rs1555598796
NM_000152.5(GAA):c.343C>T (p.Gln115Ter) rs786204614
NM_000152.5(GAA):c.352C>T (p.Gln118Ter) rs1555598800
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) rs1555598888
NM_000152.5(GAA):c.471del (p.Thr158fs) rs1057517320
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.546G>T (p.Thr182=) rs143523371
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.755dup (p.Pro253fs) rs1555599619
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.768dup (p.Ile257fs) rs1555599644
NM_000152.5(GAA):c.797C>T (p.Pro266Leu) rs1567828977
NM_000152.5(GAA):c.806_830del (p.Leu269fs) rs1598575231
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000152.5(GAA):c.883C>A (p.His295Asn) rs751639773
NM_000152.5(GAA):c.896T>C (p.Leu299Pro) rs121907940
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) rs121907940
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) rs387906504
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del) rs1230096882
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) rs1214495121
NM_000203.5(IDUA):c.1091C>A (p.Thr364Lys) rs121965032
NM_000203.5(IDUA):c.1091C>G (p.Thr364Arg) rs121965032
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1190-10C>A rs1443642527
NM_000203.5(IDUA):c.1240del (p.Ser414fs)
NM_000203.5(IDUA):c.1323C>A (p.Tyr441Ter) rs1463087550
NM_000203.5(IDUA):c.1395del (p.Gly466fs) rs1386109118
NM_000203.5(IDUA):c.1402+2T>G rs1553917428
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe) rs1577543849
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1727+1G>A rs1577544451
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) rs398123258
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter) rs746936485
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter) rs886043347
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.236C>T (p.Ala79Val) rs747981483
NM_000203.5(IDUA):c.394C>T (p.Leu132=) rs1480225127
NM_000203.5(IDUA):c.3G>A (p.Met1Ile) rs1553914740
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter) rs1389029860
NM_000203.5(IDUA):c.494-1G>A rs794727701
NM_000203.5(IDUA):c.613T>G (p.Cys205Gly) rs140294059
NM_000203.5(IDUA):c.614G>A (p.Cys205Tyr) rs1715086540
NM_000203.5(IDUA):c.65del (p.Pro22fs) rs1560531755
NM_000203.5(IDUA):c.826G>A (p.Glu276Lys) rs2534087208
NM_000203.5(IDUA):c.956C>T (p.Ala319Val) rs781534097

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