ClinVar Miner

Variants from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital: Collection method of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital:
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
267 247 18 92 60 6 54 201

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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor
pathogenic 18 68 20 5 4 0 1
likely pathogenic 19 0 10 0 0 0 1
uncertain significance 15 10 0 53 20 2 2
likely benign 0 0 3 0 2 0 0
benign 0 0 2 3 0 0 0

Submitter to submitter summary #

Total submitters: 76
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
Invitae 0 181 0 16 46 0 21 83
GeneDx 0 164 0 20 19 0 17 56
Ambry Genetics 0 83 0 10 17 0 8 35
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 58 0 10 6 0 7 23
GeneReviews 0 12 18 1 1 0 3 22
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 73 0 3 7 0 11 21
Integrated Genetics/Laboratory Corporation of America 0 47 0 4 10 0 4 18
Genetic Services Laboratory, University of Chicago 0 45 0 6 7 0 3 16
Counsyl 0 24 0 11 1 0 3 15
Illumina Clinical Services Laboratory,Illumina 0 30 0 0 12 0 4 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 56 0 5 5 0 4 14
OMIM 0 113 0 6 0 3 3 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 15 0 1 5 0 4 10
Database of Curated Mutations (DoCM) 0 1 0 10 0 0 0 10
Mendelics 0 13 0 0 5 0 4 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 15 0 2 5 0 1 8
PreventionGenetics,PreventionGenetics 0 3 0 1 4 0 2 7
Center for Human Genetics, Inc 0 19 0 2 4 0 0 6
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 2 0 2 1 0 2 5
Color 0 7 0 0 1 0 4 5
Baylor Genetics 0 23 0 2 0 0 2 4
Athena Diagnostics Inc 0 43 0 1 2 0 1 4
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 6 0 2 0 0 2 4
Fulgent Genetics,Fulgent Genetics 0 43 0 2 0 0 2 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 13 0 1 2 0 1 4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 6 0 2 0 1 1 4
CFTR-France 0 1 0 0 1 0 3 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 25 0 1 1 0 1 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 0 0 0 0 3 3
CSER _CC_NCGL, University of Washington 0 5 0 2 0 0 1 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 2 0 2 0 0 1 3
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 8 0 2 0 0 1 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 5 0 2 0 0 1 3
UCL Genetics Institute,UCL 0 0 0 0 0 2 1 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 2 0 0 1 3
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 1 0 0 1 0 2 3
ClinGen Hearing Loss Variant Curation Expert Panel, 0 4 0 1 0 0 2 3
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 3 0 1 0 0 1 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 2 0 0 0 2
Blueprint Genetics 0 14 0 0 0 1 1 2
RettBASE 0 10 0 0 1 0 1 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 8 0 1 0 0 1 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 5 0 1 0 0 1 2
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 0 0 2 0 0 2
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 2 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 4 0 0 1 0 1 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 1 0 0 1 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 5 0 1 0 0 1 2
Molecular Otolaryngology and Renal Research Laboratories,University of Iowa Hospital and Clinics 0 0 0 0 0 0 1 1
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 0 0 1 1
CFTR2 0 2 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 11 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 2 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 5 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Medical Genetics, University of Parma 0 1 0 1 0 0 0 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 0 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 3 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 1 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 9 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 1 0 1 0 0 0 1
Research and Development, ARUP Laboratories 0 4 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 4 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1 1
ClinGen PTEN Variant Curation Expert Panel 0 1 0 0 1 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 0 0 0 0 1 0 0 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 1 0 1 0 0 0 1
Robert's Program,Boston Children's Hospital 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 201
Download table as spreadsheet
HGVS dbSNP
NM_000044.6(AR):c.1768+2T>C rs1555982894
NM_000044.6(AR):c.2437C>T (p.Leu813Phe) rs1555997625
NM_000061.2(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000071.2(CBS):c.1280C>T (p.Pro427Leu) rs863223434
NM_000109.4(DMD):c.5300_5301delinsGT (p.Lys1767Ser) rs1557303381
NM_000113.2(TOR1A):c.907_909delGAG (p.Glu303del) rs80358233
NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.2248T>C (p.Cys750Arg) rs1555399368
NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.4(FBN1):c.3513C>G (p.Cys1171Trp) rs775417975
NM_000138.4(FBN1):c.6662G>A (p.Cys2221Tyr) rs137854460
NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221
NM_000174.4(GP9):c.182A>G (p.Asn61Ser) rs5030764
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077
NM_000197.2(HSD17B3):c.278-1G>C rs149607031
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr) rs121912526
NM_000252.2(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000256.3(MYBPC3):c.927-9G>A rs397516083
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.732+2T>G rs1555338658
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000267.3(NF1):c.1393-2A>G rs1555612266
NM_000267.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe) rs199474789
NM_000267.3(NF1):c.4173A>T (p.Arg1391Ser) rs137854554
NM_000267.3(NF1):c.4269+1G>A rs1555618572
NM_000267.3(NF1):c.4310A>G (p.Glu1437Gly) rs878853894
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007
NM_000310.3(PPT1):c.*3C>A rs150454815
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.536+1G>A rs386833651
NM_000314.7(PTEN):c.-975G>C rs587780001
NM_000314.7(PTEN):c.253+5G>A rs1554897889
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000314.7(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000492.3(CFTR):c.1141A>T (p.Lys381Ter) rs1554381605
NM_000492.3(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.3(CFTR):c.1394C>A (p.Thr465Asn) rs758900656
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg) rs28926178
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) rs45483392
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000552.4(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.4(VWF):c.4082T>C (p.Leu1361Ser) rs61749408
NM_000552.4(VWF):c.4115T>G (p.Ile1372Ser) rs61750070
NM_000552.4(VWF):c.4457C>T (p.Ser1486Leu) rs149424724
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446
NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001035.3(RYR2):c.8209-3A>G rs376788358
NM_001039523.3(CHRNA1):c.1396G>A (p.Gly466Arg) rs768407867
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423
NM_001077488.4(GNAS):c.604C>T (p.Arg202Cys) rs11554273
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val) rs200398000
NM_001080.3(ALDH5A1):c.1421A>C (p.Asp474Ala) rs142482046
NM_001099404.1(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu) rs200177134
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318
NM_001135599.3(TGFB2):c.440C>T (p.Pro147Leu) rs149533093
NM_001142604.2(PPT1):c.125-2957dup rs386833634
NM_001162426.2(TSC1):c.954_956GTT[1] (p.Leu320del) rs755655903
NM_001163213.1(FGFR3):c.1144G>A (p.Gly382Arg) rs28931614
NM_001163213.1(FGFR3):c.1178C>A (p.Ala393Glu) rs28931615
NM_001163213.1(FGFR3):c.1626C>A (p.Asn542Lys) rs28933068
NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys) rs28933068
NM_001163213.1(FGFR3):c.1954A>C (p.Lys652Gln) rs78311289
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001354712.2(THRB):c.1029T>G (p.Asn343Lys) rs1354053223
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala) rs121918704
NM_001354712.2(THRB):c.803C>G (p.Ala268Gly) rs750905761
NM_001354712.2(THRB):c.959G>A (p.Arg320His) rs121918693
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) rs147605116
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) rs769827124
NM_002693.2(POLG):c.678G>C (p.Gln226His) rs147282197
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.4(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.4(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003373.4(VCL):c.2746-2159_2746-2157del rs397517237
NM_003865.3(HESX1):c.308T>A (p.Leu103Ter) rs777223697
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) rs111033335
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004006.2(DMD):c.1812+1G>A rs373286166
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215
NM_004992.3(MECP2):c.378-17del rs61753982
NM_005149.3(TBX19):c.204-3T>C rs200043223
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter) rs200197424
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591
NM_006079.5(CITED2):c.479A>T (p.His160Leu) rs111814036
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006920.6(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_016729.3(FOLR1):c.493+2T>C rs144637717
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His) rs375018022
NM_018328.4(MBD5):c.2979G>C (p.Gln993His) rs148321416
NM_018328.4(MBD5):c.4271C>A (p.Pro1424His) rs775673512
NM_018328.4(MBD5):c.599G>A (p.Arg200Gln) rs149278000
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.867+4del rs398124368
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907
NM_170707.4(LMNA):c.3G>C (p.Met1Ile) rs794728598
NM_172056.2(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_181798.1(KCNQ1):c.293C>T (p.Ser98Leu) rs199473456
NM_181798.1(KCNQ1):c.376T>C (p.Ser126Pro) rs764781840
NM_181798.1(KCNQ1):c.563A>G (p.Tyr188Cys) rs74462309
NM_198056.2(SCN5A):c.3718G>C (p.Glu1240Gln) rs199473211
NM_198056.2(SCN5A):c.3911C>T (p.Thr1304Met) rs199473603
NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) rs137854612
NM_198056.2(SCN5A):c.4719C>T (p.Gly1573=) rs754221948

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