ClinVar Miner

Variants with conflicting interpretations studied for Catecholaminergic polymorphic ventricular tachycardia

Coded as:
Minimum review status of the submission for Catecholaminergic polymorphic ventricular tachycardia: Y axis collection method of the submission for Catecholaminergic polymorphic ventricular tachycardia:
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
530 342 1 165 111 0 14 258

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 conditions
Catecholaminergic polymorphic ventricular tachycardia pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 9 1 0 0
likely pathogenic 6 0 1 0 0
uncertain significance 3 9 0 73 31
likely benign 0 1 50 0 107
benign 0 0 22 93 0

Condition to condition summary #

Total conditions: 25
Download table as spreadsheet
Condition 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
not specified 0 133 0 130 64 0 0 178
Cardiomyopathy 0 78 0 83 35 0 0 108
Cardiovascular phenotype 0 86 0 75 39 0 0 106
Catecholaminergic polymorphic ventricular tachycardia 1025 18 0 50 37 0 0 87
Arrhythmogenic right ventricular cardiomyopathy 0 141 0 38 34 0 0 72
not provided 0 102 0 25 32 0 8 61
Ventricular tachycardia, catecholaminergic polymorphic, 2 0 4 1 7 3 0 0 11
Catecholaminergic polymorphic ventricular tachycardia type 1 0 8 0 2 3 0 3 8
Cardiac arrhythmia 0 0 0 2 2 0 0 4
Caudal dysgenesis syndrome 0 19 0 4 0 0 0 4
Neural tube defect 0 19 0 4 0 0 0 4
Inborn genetic diseases 0 1 0 1 1 0 0 2
Long QT syndrome 0 4 0 0 0 0 2 2
Primary familial hypertrophic cardiomyopathy 0 1 0 0 2 0 0 2
Abnormal heart morphology; Sinus bradycardia; Ventricular hypertrophy; Prolonged QTc interval; Left ventricular noncompaction cardiomyopathy; Abnormality of the trabecular meshwork 0 0 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia, familial, 2 0 3 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia, familial, 2; Catecholaminergic polymorphic ventricular tachycardia type 1 0 11 0 0 1 0 0 1
Death in infancy 0 0 0 0 0 0 1 1
Paroxysmal familial ventricular fibrillation 1 0 0 0 0 0 0 1 1
Sudden cardiac death 0 0 0 0 1 0 0 1
Ventricular tachycardia, catecholaminergic polymorphic, 4 0 0 0 1 0 0 0 1
Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 0 0 0 1 0 0 0 1
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 0 3 0 1 0 0 0 1
Ventricular tachycardia, polymorphic 0 0 0 0 1 0 0 1
Wolff-Parkinson-White pattern 0 3 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 258
Download table as spreadsheet
HGVS dbSNP
NM_001035.2(RYR2):c.(?_169)_(273_?)del (p.(?))
NM_001035.2(RYR2):c.10008G>A (p.Glu3336=) rs753175584
NM_001035.2(RYR2):c.10017C>T (p.His3339=) rs376439588
NM_001035.2(RYR2):c.10035G>A (p.Arg3345=) rs754976419
NM_001035.2(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.2(RYR2):c.1006-12C>T rs367998175
NM_001035.2(RYR2):c.10155A>G (p.Leu3385=) rs543120030
NM_001035.2(RYR2):c.10231-4T>C rs117180147
NM_001035.2(RYR2):c.10231-5C>T rs186326951
NM_001035.2(RYR2):c.10254C>T (p.Asn3418=) rs138073811
NM_001035.2(RYR2):c.10324-4A>G rs72751287
NM_001035.2(RYR2):c.10381A>G (p.Met3461Val) rs147512481
NM_001035.2(RYR2):c.10452G>T (p.Gly3484=) rs199498105
NM_001035.2(RYR2):c.10503C>T (p.Thr3501=) rs2797441
NM_001035.2(RYR2):c.1053A>G (p.Thr351=) rs187565743
NM_001035.2(RYR2):c.10641G>A (p.Thr3547=) rs144256966
NM_001035.2(RYR2):c.10699C>T (p.Arg3567Cys) rs559154874
NM_001035.2(RYR2):c.1069G>A (p.Gly357Ser) rs1401116572
NM_001035.2(RYR2):c.10776C>T (p.Ser3592=) rs2685301
NM_001035.2(RYR2):c.10941T>G (p.Pro3647=) rs370332882
NM_001035.2(RYR2):c.11039+7T>C rs569571855
NM_001035.2(RYR2):c.1108C>T (p.Leu370=) rs534621173
NM_001035.2(RYR2):c.11092-6A>T rs397516501
NM_001035.2(RYR2):c.1110A>G (p.Leu370=) rs150705689
NM_001035.2(RYR2):c.1134C>T (p.Asp378=) rs193922621
NM_001035.2(RYR2):c.1143C>T (p.Ser381=) rs368844286
NM_001035.2(RYR2):c.11476+10A>C rs794728702
NM_001035.2(RYR2):c.11476+15C>T rs192323827
NM_001035.2(RYR2):c.11496C>T (p.Asp3832=) rs397516505
NM_001035.2(RYR2):c.11557+14C>T rs374155447
NM_001035.2(RYR2):c.11766G>A (p.Glu3922=) rs774625105
NM_001035.2(RYR2):c.11814C>A (p.Ser3938Arg) rs794728704
NM_001035.2(RYR2):c.11835C>T (p.Val3945=) rs78939657
NM_001035.2(RYR2):c.11880+13_11880+16delACTG rs199562036
NM_001035.2(RYR2):c.11963-11T>C rs790889
NM_001035.2(RYR2):c.11988C>T (p.Gly3996=) rs56226196
NM_001035.2(RYR2):c.12027C>T (p.Asn4009=) rs763374929
NM_001035.2(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.2(RYR2):c.1218G>A (p.Ser406=) rs147389346
NM_001035.2(RYR2):c.12326T>C (p.Met4109Thr) rs1373714510
NM_001035.2(RYR2):c.1243A>G (p.Thr415Ala) rs545357663
NM_001035.2(RYR2):c.12470G>A (p.Arg4157Gln) rs794728786
NM_001035.2(RYR2):c.12492G>A (p.Gln4164=) rs377293019
NM_001035.2(RYR2):c.12545A>C (p.Glu4182Ala) rs794728788
NM_001035.2(RYR2):c.12609G>T (p.Ala4203=) rs372943408
NM_001035.2(RYR2):c.12648G>A (p.Ala4216=) rs781557399
NM_001035.2(RYR2):c.12663C>T (p.Ser4221=) rs370297602
NM_001035.2(RYR2):c.12705C>T (p.Phe4235=) rs373606009
NM_001035.2(RYR2):c.12826G>A (p.Val4276Met) rs368599791
NM_001035.2(RYR2):c.12842C>T (p.Thr4281Met) rs201829896
NM_001035.2(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869
NM_001035.2(RYR2):c.1296C>A (p.Gly432=) rs184176405
NM_001035.2(RYR2):c.1298T>C (p.Leu433Pro) rs121918602
NM_001035.2(RYR2):c.13260+14A>G rs141528541
NM_001035.2(RYR2):c.13326C>T (p.Ala4442=) rs768161152
NM_001035.2(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.2(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.2(RYR2):c.13593G>A (p.Lys4531=) rs548313130
NM_001035.2(RYR2):c.1359C>T (p.Ser453=) rs3765097
NM_001035.2(RYR2):c.13656T>C (p.His4552=) rs397516512
NM_001035.2(RYR2):c.13665C>T (p.Ile4555=) rs375213838
NM_001035.2(RYR2):c.13672C>T (p.His4558Tyr) rs773264033
NM_001035.2(RYR2):c.13740G>A (p.Thr4580=) rs115854664
NM_001035.2(RYR2):c.13783-6A>G rs790901
NM_001035.2(RYR2):c.13913+12A>C rs790900
NM_001035.2(RYR2):c.13977G>A (p.Glu4659=) rs78369334
NM_001035.2(RYR2):c.13983C>T (p.Tyr4661=) rs138498780
NM_001035.2(RYR2):c.1404G>A (p.Glu468=) rs768538183
NM_001035.2(RYR2):c.14299-12A>G rs41267519
NM_001035.2(RYR2):c.14311G>A (p.Val4771Ile) rs794728804
NM_001035.2(RYR2):c.14421C>T (p.Asp4807=) rs75206601
NM_001035.2(RYR2):c.14481C>T (p.Ile4827=) rs114303476
NM_001035.2(RYR2):c.14703G>C (p.Val4901=) rs201371633
NM_001035.2(RYR2):c.14756+12C>T rs2275693
NM_001035.2(RYR2):c.14809-15C>G rs790897
NM_001035.2(RYR2):c.14845T>C (p.Trp4949Arg) rs794728810
NM_001035.2(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.2(RYR2):c.1519G>A (p.Val507Ile) rs16835270
NM_001035.2(RYR2):c.1548T>C (p.Asp516=) rs146129084
NM_001035.2(RYR2):c.1611G>A (p.Leu537=) rs78281932
NM_001035.2(RYR2):c.1612+13A>G rs368200572
NM_001035.2(RYR2):c.1612+14T>C rs2045955
NM_001035.2(RYR2):c.1614G>A (p.Ala538=) rs566885717
NM_001035.2(RYR2):c.1776A>T (p.Gly592=) rs72549414
NM_001035.2(RYR2):c.1822C>T (p.His608Tyr) rs727504718
NM_001035.2(RYR2):c.1847C>T (p.Ser616Leu) rs730880187
NM_001035.2(RYR2):c.1863C>T (p.His621=) rs17686573
NM_001035.2(RYR2):c.2046A>G (p.Thr682=) rs116098815
NM_001035.2(RYR2):c.2204-7C>G rs147479514
NM_001035.2(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.2(RYR2):c.2301G>T (p.Ser767=) rs117588730
NM_001035.2(RYR2):c.231G>A (p.Ala77=) rs376225470
NM_001035.2(RYR2):c.2389G>A (p.Gly797Arg) rs200121281
NM_001035.2(RYR2):c.2397-6C>T rs78165942
NM_001035.2(RYR2):c.2574G>A (p.Thr858=) rs367992907
NM_001035.2(RYR2):c.2630A>C (p.His877Pro) rs561321743
NM_001035.2(RYR2):c.2643A>C (p.Ile881=) rs751869107
NM_001035.2(RYR2):c.2755G>A (p.Val919Met) rs201079716
NM_001035.2(RYR2):c.2760G>A (p.Glu920=) rs186181155
NM_001035.2(RYR2):c.2772G>A (p.Leu924=) rs780664060
NM_001035.2(RYR2):c.2935G>T (p.Ala979Ser) rs202015519
NM_001035.2(RYR2):c.2973A>G (p.Ser991=) rs2253273
NM_001035.2(RYR2):c.3030T>C (p.Asp1010=) rs138064129
NM_001035.2(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.2(RYR2):c.3054T>C (p.Tyr1018=) rs113422365
NM_001035.2(RYR2):c.3105C>T (p.Tyr1035=) rs747358776
NM_001035.2(RYR2):c.3153C>T (p.Arg1051=) rs397516524
NM_001035.2(RYR2):c.3225C>T (p.Ala1075=) rs727505215
NM_001035.2(RYR2):c.3230T>C (p.Val1077Ala) rs202176504
NM_001035.2(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624
NM_001035.2(RYR2):c.3320C>T (p.Thr1107Met) rs200236750
NM_001035.2(RYR2):c.3372G>A (p.Pro1124=) rs368017980
NM_001035.2(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.2(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001035.2(RYR2):c.3423+6T>G rs1057521957
NM_001035.2(RYR2):c.3537T>C (p.Gly1179=) rs397516526
NM_001035.2(RYR2):c.365G>A (p.Arg122His) rs727503396
NM_001035.2(RYR2):c.3720C>T (p.Ala1240=) rs750335699
NM_001035.2(RYR2):c.375T>C (p.Tyr125=) rs397516528
NM_001035.2(RYR2):c.385-9A>C rs140998248
NM_001035.2(RYR2):c.3888C>T (p.Asn1296=) rs373721253
NM_001035.2(RYR2):c.4044G>A (p.Lys1348=) rs755391572
NM_001035.2(RYR2):c.4068C>T (p.Pro1356=) rs199821105
NM_001035.2(RYR2):c.4094C>T (p.Ala1365Val) rs373261115
NM_001035.2(RYR2):c.4160+7A>G rs377465289
NM_001035.2(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512
NM_001035.2(RYR2):c.4347T>C (p.Asp1449=) rs368930040
NM_001035.2(RYR2):c.4445G>A (p.Arg1482His) rs373024059
NM_001035.2(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001035.2(RYR2):c.4597-11delA rs3841805
NM_001035.2(RYR2):c.4605G>A (p.Pro1535=) rs201916326
NM_001035.2(RYR2):c.464-8A>C rs10925391
NM_001035.2(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690
NM_001035.2(RYR2):c.4684-11C>T rs7546045
NM_001035.2(RYR2):c.4684-5G>C rs7522981
NM_001035.2(RYR2):c.4695T>C (p.Pro1565=) rs368826662
NM_001035.2(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.2(RYR2):c.4740G>A (p.Pro1580=) rs79811945
NM_001035.2(RYR2):c.4941G>A (p.Gln1647=) rs727504997
NM_001035.2(RYR2):c.4989C>T (p.Ala1663=) rs147060179
NM_001035.2(RYR2):c.5001T>C (p.Leu1667=) rs397516537
NM_001035.2(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.2(RYR2):c.5136C>T (p.Ser1712=) rs397516540
NM_001035.2(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.2(RYR2):c.5190G>A (p.Thr1730=) rs397516541
NM_001035.2(RYR2):c.5373C>A (p.Thr1791=) rs765283048
NM_001035.2(RYR2):c.5400A>G (p.Lys1800=) rs3820216
NM_001035.2(RYR2):c.5571G>A (p.Pro1857=) rs371934582
NM_001035.2(RYR2):c.5586C>T (p.Asp1862=) rs193922628
NM_001035.2(RYR2):c.5619A>G (p.Ala1873=) rs373282364
NM_001035.2(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858
NM_001035.2(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871
NM_001035.2(RYR2):c.576+7G>C rs10925392
NM_001035.2(RYR2):c.5763G>A (p.Arg1921=) rs886046270
NM_001035.2(RYR2):c.577-14G>A rs148019277
NM_001035.2(RYR2):c.615C>T (p.Ala205=) rs112680790
NM_001035.2(RYR2):c.6337G>A (p.Val2113Met) rs186906598
NM_001035.2(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.2(RYR2):c.6555+6G>A rs372661934
NM_001035.2(RYR2):c.6689-12T>C rs370972311
NM_001035.2(RYR2):c.6738G>T (p.Ser2246=) rs368207198
NM_001035.2(RYR2):c.677-11T>A rs10754602
NM_001035.2(RYR2):c.684C>T (p.Leu228=) rs72549417
NM_001035.2(RYR2):c.6906T>C (p.Leu2302=) rs707189
NM_001035.2(RYR2):c.6928+4G>A rs79862521
NM_001035.2(RYR2):c.7038A>C (p.Ala2346=) rs116601686
NM_001035.2(RYR2):c.7159G>A (p.Ala2387Thr) rs794728753
NM_001035.2(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.2(RYR2):c.7233C>T (p.Ala2411=) rs367994477
NM_001035.2(RYR2):c.726C>T (p.Asp242=) rs76380341
NM_001035.2(RYR2):c.7365C>T (p.Asp2455=) rs72549416
NM_001035.2(RYR2):c.7443A>G (p.Gln2481=) rs759314800
NM_001035.2(RYR2):c.7488C>T (p.Leu2496=) rs143906555
NM_001035.2(RYR2):c.7513-8T>G rs727503402
NM_001035.2(RYR2):c.7542G>A (p.Leu2514=) rs371088367
NM_001035.2(RYR2):c.7608T>C (p.Ala2536=) rs367987360
NM_001035.2(RYR2):c.7619A>G (p.His2540Arg) rs200105499
NM_001035.2(RYR2):c.7806C>T (p.His2602=) rs684923
NM_001035.2(RYR2):c.7925G>A (p.Arg2642Lys) rs377473366
NM_001035.2(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897
NM_001035.2(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134
NM_001035.2(RYR2):c.818C>T (p.Ser273Phe) rs794728715
NM_001035.2(RYR2):c.8209-7_8209-4delTTTT rs876657992
NM_001035.2(RYR2):c.828A>G (p.Arg276=) rs180711819
NM_001035.2(RYR2):c.8367T>C (p.Ile2789=) rs563219502
NM_001035.2(RYR2):c.8437-7dupG rs148246251
NM_001035.2(RYR2):c.8448C>T (p.Asp2816=) rs144876996
NM_001035.2(RYR2):c.849-8T>C rs16835237
NM_001035.2(RYR2):c.8493T>C (p.Val2831=) rs755660659
NM_001035.2(RYR2):c.8831-9A>C rs187977513
NM_001035.2(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813
NM_001035.2(RYR2):c.8913T>C (p.Ile2971=) rs755520825
NM_001035.2(RYR2):c.892C>T (p.Arg298Cys) rs551099887
NM_001035.2(RYR2):c.9067+10C>T rs372631657
NM_001035.2(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001035.2(RYR2):c.9435T>C (p.Ser3145=) rs774657844
NM_001035.2(RYR2):c.9449+8T>A rs60777199
NM_001035.2(RYR2):c.9450-3T>C rs188671846
NM_001035.2(RYR2):c.9519T>C (p.Thr3173=) rs371931287
NM_001035.2(RYR2):c.9560A>G (p.Lys3187Arg) rs184218219
NM_001035.2(RYR2):c.9580+9G>A rs767679867
NM_001035.2(RYR2):c.9603G>A (p.Val3201=) rs369285719
NM_001035.2(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642
NM_001035.2(RYR2):c.9655G>A (p.Val3219Met) rs371147744
NM_001035.2(RYR2):c.9666C>T (p.Ala3222=) rs116442127
NM_001035.2(RYR2):c.9672C>T (p.Ser3224=) rs370740528
NM_001035.2(RYR2):c.9867G>A (p.Gly3289=) rs190537182
NM_001035.2(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663
NM_001035.2(RYR2):c.9963G>A (p.Pro3321=) rs199730192
NM_001232.3(CASQ2):c.*482C>T rs7521023
NM_001232.3(CASQ2):c.*632G>C rs1140238
NM_001232.3(CASQ2):c.-21G>A rs12067472
NM_001232.3(CASQ2):c.1005T>C (p.Asn335=) rs28730712
NM_001232.3(CASQ2):c.1014+9C>T rs77775029
NM_001232.3(CASQ2):c.1015-3C>T rs375320117
NM_001232.3(CASQ2):c.1185C>T (p.Asp395=) rs7413162
NM_001232.3(CASQ2):c.1185_1187delCGA (p.Asp398del) rs397516641
NM_001232.3(CASQ2):c.1194T>C (p.Asp398=) rs28730711
NM_001232.3(CASQ2):c.198G>A (p.Thr66=) rs74114618
NM_001232.3(CASQ2):c.226G>A (p.Val76Met) rs10801999
NM_001232.3(CASQ2):c.270C>A (p.Gly90=) rs72554056
NM_001232.3(CASQ2):c.421-14G>A rs139281637
NM_001232.3(CASQ2):c.421-15C>G rs199939582
NM_001232.3(CASQ2):c.421-7A>T rs776008006
NM_001232.3(CASQ2):c.567C>G (p.Phe189Leu) rs146664754
NM_001232.3(CASQ2):c.731A>G (p.His244Arg) rs28730716
NM_001232.3(CASQ2):c.774T>C (p.Phe258=) rs181769947
NM_001232.3(CASQ2):c.855G>C (p.Leu285=) rs148562107
NM_001232.3(CASQ2):c.861C>A (p.Ile287=) rs143718767
NM_001232.3(CASQ2):c.923C>T (p.Pro308Leu) rs139228801
NM_001232.3(CASQ2):c.928G>A (p.Asp310Asn) rs141314684
NM_001232.3(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001251987.1(TRDN):c.568dupA (p.Ile190Asnfs) rs1085307100
NM_006073.3(TRDN):c.-26A>G rs372934247
NM_006073.3(TRDN):c.1105+5G>A rs41284430
NM_006073.3(TRDN):c.1188A>G (p.Lys396=) rs6901953
NM_006073.3(TRDN):c.1211T>G (p.Val404Gly) rs28494009
NM_006073.3(TRDN):c.1219+4A>G rs189551080
NM_006073.3(TRDN):c.1257C>A (p.Asp419Glu) rs17737379
NM_006073.3(TRDN):c.1282C>T (p.Arg428Ter) rs202219343
NM_006073.3(TRDN):c.1313T>A (p.Ile438Asn) rs2873479
NM_006073.3(TRDN):c.1408C>A (p.Leu470Met) rs6569336
NM_006073.3(TRDN):c.1510G>A (p.Gly504Ser) rs150531306
NM_006073.3(TRDN):c.1598-3dupT rs147062785
NM_006073.3(TRDN):c.1620A>G (p.Ile540Met) rs7771303
NM_006073.3(TRDN):c.1713A>C (p.Glu571Asp) rs201115952
NM_006073.3(TRDN):c.1871-15G>A rs59935057
NM_006073.3(TRDN):c.1895G>A (p.Arg632Lys) rs181571822
NM_006073.3(TRDN):c.1900_1903delGAAA (p.Glu634Lysfs) rs750469686
NM_006073.3(TRDN):c.1975+9G>A rs111276785
NM_006073.3(TRDN):c.277C>T (p.Arg93Cys) rs370788759
NM_006073.3(TRDN):c.367G>A (p.Asp123Asn) rs201021891
NM_006073.3(TRDN):c.375C>T (p.Asp125=) rs377440434
NM_006073.3(TRDN):c.430C>T (p.His144Tyr) rs79182520
NM_006073.3(TRDN):c.503_508delAAAAAG (p.Glu168_Lys169del) rs148596612
NM_006073.3(TRDN):c.510A>G (p.Gly170=) rs773658957
NM_006073.3(TRDN):c.932-4C>G rs77768246
NM_006888.5(CALM1):c.293A>G (p.Asn98Ser) rs267607277

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