ClinVar Miner

Variants with conflicting interpretations studied for Brugada syndrome

Coded as:
Minimum review status of the submission for Brugada syndrome: Y axis collection method of the submission for Brugada syndrome:
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
899 567 2 190 142 3 56 343

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
Brugada syndrome pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 18 2 0 0 0
likely pathogenic 21 1 8 0 0 1
uncertain significance 20 25 1 59 35 0
likely benign 9 0 68 0 100 2
benign 4 0 18 67 0 2

Condition to condition summary #

Total conditions: 68
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 0 195 0 120 82 0 2 188
not provided 0 206 1 57 54 0 26 130
Cardiovascular phenotype 0 139 0 82 44 0 4 127
Long QT syndrome 0 120 0 40 33 0 1 74
Brugada syndrome 1700 70 0 16 19 0 4 39
Arrhythmia 0 69 0 20 16 0 2 38
Dilated Cardiomyopathy, Dominant 0 82 0 7 17 0 0 24
Paroxysmal familial ventricular fibrillation 0 82 0 7 17 0 0 24
Progressive familial heart block 0 82 0 7 17 0 0 24
Romano-Ward syndrome 0 82 0 7 17 0 0 24
Sick sinus syndrome 0 82 0 7 17 0 0 24
History of neurodevelopmental disorder 0 19 0 17 3 0 0 20
Brugada syndrome 1 0 13 0 5 3 0 7 15
Brugada syndrome 4 0 3 0 5 10 0 0 15
Long QT syndrome 3 0 18 0 7 1 0 4 11
Cardiac arrhythmia 0 2 1 4 0 0 0 5
Primary dilated cardiomyopathy 0 4 0 1 4 0 0 5
Brugada syndrome 5 0 0 0 4 0 0 0 4
Death in infancy 0 0 0 1 0 0 3 4
Atrial fibrillation, familial, 10 0 1 0 0 0 0 3 3
Brugada syndrome 1; Long QT syndrome 3 0 1 0 2 1 0 0 3
Brugada syndrome 2 0 0 0 2 0 0 2 3
Cardiac arrest 0 0 0 2 0 0 1 3
Cardiomyopathy 0 5 0 1 2 0 0 3
Progressive familial heart block type 1B 0 1 0 0 3 0 2 3
Seizures 0 1 0 3 0 0 0 3
Brugada syndrome 7 0 0 0 1 0 0 1 2
Brugada syndrome, lidocaine-induced 0 0 0 1 1 0 0 2
Cardiac conduction defect, nonspecific 0 16 0 1 0 0 1 2
Dilated cardiomyopathy 1E 0 3 0 0 0 0 2 2
Long QT syndrome 1 0 1 0 1 0 0 1 2
Long QT syndrome, drug-associated 0 0 0 1 1 0 0 2
Long qt syndrome 3, acquired, susceptibility to 0 0 0 0 0 2 0 2
Paroxysmal familial ventricular fibrillation 1 0 0 0 2 0 0 0 2
Primary familial hypertrophic cardiomyopathy 0 2 0 0 2 0 0 2
SUDDEN INFANT DEATH SYNDROME 0 4 0 1 0 0 1 2
Sick sinus syndrome 1, autosomal recessive 0 0 0 1 0 0 1 2
Arrhythmogenic right ventricular cardiomyopathy 0 2 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 0 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 0 0 0 0 0 0 1 1
Atrial fibrillation 0 4 0 0 0 0 1 1
Atrial fibrillation, familial, 16 0 0 0 0 0 0 1 1
Atrial fibrillation; Brugada syndrome 0 0 0 1 0 0 0 1
Brugada syndrome (shorter-than-normal QT interval) 0 2 0 1 0 0 0 1
Brugada syndrome 1; Long QT syndrome 3; Progressive familial heart block type 1A; Paroxysmal familial ventricular fibrillation 1; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10 0 0 0 0 0 0 1 1
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1, autosomal recessive; Progressive familial heart block type 1A; Paroxysmal familial ventricular fibrillation 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 0 14 0 1 0 0 0 1
Brugada syndrome 3 0 2 0 0 0 0 1 1
Brugada syndrome 6 0 0 0 0 1 0 1 1
Brugada syndrome 8 0 0 0 0 1 0 0 1
Cardiomyopathy, restrictive; Long QT syndrome 0 0 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 0 0 1 0 0 1
Death in early adulthood 0 0 0 0 0 0 1 1
Dilated cardiomyopathy 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1O 0 0 0 1 0 0 0 1
Familial dilated cardiomyopathy 0 0 0 0 1 0 0 1
Inborn genetic diseases 0 3 0 0 1 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 0 1 0 0 0 1
Long QT syndrome 2, acquired, susceptibility to 0 0 0 0 0 1 0 1
Long QT syndrome 2/3, digenic 0 0 0 0 0 0 1 1
Long QT syndrome 3; Brugada syndrome 0 3 0 0 1 0 0 1
Nodal rhythm 0 0 0 0 1 0 0 1
Primary familial hypertrophic cardiomyopathy; Long QT syndrome 0 0 0 1 0 0 0 1
Progressive familial heart block type 1A 0 0 0 1 0 0 0 1
Pulmonary valve stenosis (rare); Ventricular tachycardia 0 0 0 1 0 0 0 1
Sudden cardiac death 0 3 0 0 1 0 0 1
Timothy syndrome 0 210 0 0 1 0 0 1
Ventricular tachycardia 0 0 0 0 1 0 0 1
Wolff-Parkinson-White pattern 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 343
Download table as spreadsheet
HGVS dbSNP
NM_000238.3(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441
NM_000335.4(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339
NM_000335.4(SCN5A):c.1714_1715delGCinsTT (p.Ala572Phe) rs730880211
NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_000335.4(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000335.4(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.4(SCN5A):c.2436+12G>A rs41312419
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.3832G>A (p.Val1278Ile) rs199473341
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031
NM_000335.4(SCN5A):c.393-5C>A rs368678204
NM_000335.4(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.4(SCN5A):c.4591G>A (p.Val1531Ile) rs199473618
NM_000335.4(SCN5A):c.4845C>T (p.Phe1615=) rs41315495
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.4(SCN5A):c.5474G>A (p.Arg1825His) rs137854610
NM_000335.4(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942
NM_000335.4(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233
NM_000335.4(SCN5A):c.5841C>T (p.Ile1947=) rs13324293
NM_000335.4(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.4(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331
NM_000335.4(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000335.4(SCN5A):c.694G>A (p.Val232Ile) rs45471994
NM_000719.6(CACNA1C):c.1002C>T (p.Pro334=) rs112002520
NM_000719.6(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613
NM_000719.6(CACNA1C):c.1176G>T (p.Gly392=) rs1051360
NM_000719.6(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.6(CACNA1C):c.171C>T (p.Asp57=) rs34419050
NM_000719.6(CACNA1C):c.1734G>A (p.Leu578=) rs150692845
NM_000719.6(CACNA1C):c.1794C>T (p.Gly598=) rs116491041
NM_000719.6(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790
NM_000719.6(CACNA1C):c.2067C>T (p.Phe689=) rs112170830
NM_000719.6(CACNA1C):c.213G>A (p.Ala71=) rs113869350
NM_000719.6(CACNA1C):c.2232A>C (p.Leu744=) rs370145265
NM_000719.6(CACNA1C):c.2391G>A (p.Gly797=) rs374857905
NM_000719.6(CACNA1C):c.2437G>A (p.Gly813Arg) rs545511851
NM_000719.6(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048
NM_000719.6(CACNA1C):c.3049-10C>T rs186741807
NM_000719.6(CACNA1C):c.3114G>C (p.Leu1038=) rs114139824
NM_000719.6(CACNA1C):c.3201G>A (p.Ala1067=) rs758461435
NM_000719.6(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207
NM_000719.6(CACNA1C):c.3387G>A (p.Thr1129=) rs188224114
NM_000719.6(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008
NM_000719.6(CACNA1C):c.372-15G>A rs55792866
NM_000719.6(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000719.6(CACNA1C):c.3933C>T (p.Cys1311=) rs199569953
NM_000719.6(CACNA1C):c.3946-10C>T rs370630496
NM_000719.6(CACNA1C):c.3948C>T (p.Asn1316=) rs150092451
NM_000719.6(CACNA1C):c.4038C>T (p.Ile1346=) rs56180838
NM_000719.6(CACNA1C):c.4140+4G>A rs111442547
NM_000719.6(CACNA1C):c.4323G>A (p.Thr1441=) rs753892795
NM_000719.6(CACNA1C):c.4624-9C>T rs377568567
NM_000719.6(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568
NM_000719.6(CACNA1C):c.4726+13G>A rs561365937
NM_000719.6(CACNA1C):c.4726+9G>A rs369267978
NM_000719.6(CACNA1C):c.4727-9G>A rs757966245
NM_000719.6(CACNA1C):c.4761G>A (p.Ala1587=) rs756364065
NM_000719.6(CACNA1C):c.5064C>T (p.Ser1688=) rs139872789
NM_000719.6(CACNA1C):c.5097C>T (p.Ala1699=) rs113595214
NM_000719.6(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455
NM_000719.6(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706
NM_000719.6(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.6(CACNA1C):c.5292C>T (p.Asn1764=) rs72552065
NM_000719.6(CACNA1C):c.5360C>T (p.Thr1787Met) rs192749597
NM_000719.6(CACNA1C):c.537C>T (p.Ile179=) rs369673473
NM_000719.6(CACNA1C):c.5383G>A (p.Gly1795Arg) rs111298509
NM_000719.6(CACNA1C):c.5492C>T (p.Thr1831Met) rs186015395
NM_000719.6(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.6(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316
NM_000719.6(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896
NM_000719.6(CACNA1C):c.5644T>C (p.Ser1882Pro) rs369438564
NM_000719.6(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948
NM_000719.6(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586
NM_000719.6(CACNA1C):c.5680+11C>T rs66611965
NM_000719.6(CACNA1C):c.5680+15C>T rs114036394
NM_000719.6(CACNA1C):c.579C>T (p.Asn193=) rs561224137
NM_000719.6(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000719.6(CACNA1C):c.6344G>C (p.Gly2115Ala) rs199694744
NM_000719.6(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421
NM_000719.6(CACNA1C):c.966C>T (p.His322=) rs112539787
NM_000722.3(CACNA2D1):c.1735-6T>C rs111772206
NM_000722.3(CACNA2D1):c.1956-4delT rs3083235
NM_000722.3(CACNA2D1):c.1956-5_1956-4dupTT rs3083235
NM_000722.3(CACNA2D1):c.1983G>A (p.Ser661=) rs75158917
NM_000722.3(CACNA2D1):c.2264G>C (p.Ser755Thr) rs151327713
NM_000722.3(CACNA2D1):c.2673A>G (p.Val891=) rs142553634
NM_000722.3(CACNA2D1):c.2837-7A>G rs112176710
NM_000722.3(CACNA2D1):c.3134A>C (p.Asp1045Ala) rs35131433
NM_000722.3(CACNA2D1):c.831C>G (p.Ser277=) rs144936173
NM_000722.3(CACNA2D1):c.960C>T (p.Asp320=) rs199512133
NM_000724.3(CACNB2):c.1346C>T (p.Thr449Ile) rs143326262
NM_000724.3(CACNB2):c.1426C>T (p.Arg476Cys) rs202152674
NM_000724.3(CACNB2):c.1611C>A (p.Asp537Glu) rs144182966
NM_000724.3(CACNB2):c.425C>T (p.Ser142Phe) rs150528041
NM_001037.4(SCN1B):c.-9C>A rs66671189
NM_001037.4(SCN1B):c.207+14G>A rs16969924
NM_001037.4(SCN1B):c.28G>A (p.Gly10Ser) rs72552027
NM_001037.4(SCN1B):c.351C>T (p.Gly117=) rs3746255
NM_001037.4(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001037.4(SCN1B):c.501T>C (p.Ile167=) rs16969930
NM_001099404.1(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230
NM_001099404.1(SCN5A):c.3954G>A (p.Glu1318=) rs769473892
NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) rs149930872
NM_004982.3(KCNJ8):c.1265C>T (p.Ser422Leu) rs72554071
NM_005472.4(KCNE3):c.*17C>T rs11822977
NM_005472.4(KCNE3):c.-190+14C>G rs570472222
NM_005472.4(KCNE3):c.198T>C (p.Phe66=) rs2270676
NM_005472.4(KCNE3):c.296G>A (p.Arg99His) rs121908441
NM_005477.2(HCN4):c.458A>G (p.Glu153Gly) rs560874115
NM_005691.3(ABCC9):c.2093-7T>C rs185235724
NM_006514.3(SCN10A):c.1141A>G (p.Ile381Val) rs150923753
NM_006514.3(SCN10A):c.1453C>T (p.Arg485Cys) rs151153639
NM_006514.3(SCN10A):c.2816C>T (p.Pro939Leu) rs202174472
NM_006514.3(SCN10A):c.3238G>A (p.Asp1080Asn) rs376528831
NM_006514.3(SCN10A):c.3674T>C (p.Ile1225Thr) rs139638446
NM_006514.3(SCN10A):c.3803G>A (p.Arg1268Gln) rs138832868
NM_006514.3(SCN10A):c.3859G>A (p.Val1287Ile) rs145032037
NM_006514.3(SCN10A):c.4379G>A (p.Arg1460Gln) rs369399424
NM_006514.3(SCN10A):c.4416C>T (p.Ile1472=) rs144944369
NM_006514.3(SCN10A):c.4515G>A (p.Thr1505=) rs191624001
NM_006514.3(SCN10A):c.4694G>A (p.Ser1565Asn) rs200063383
NM_006514.3(SCN10A):c.5295G>A (p.Ser1765=) rs145313578
NM_006514.3(SCN10A):c.5496T>C (p.Thr1832=) rs112374164
NM_006514.3(SCN10A):c.55G>A (p.Glu19Lys) rs141810266
NM_006514.3(SCN10A):c.5834A>G (p.Glu1945Gly) rs372702302
NM_006514.3(SCN10A):c.648A>C (p.Thr216=) rs150977149
NM_015141.3(GPD1L):c.366+8G>A rs72546650
NM_015141.3(GPD1L):c.370A>G (p.Ile124Val) rs72552293
NM_015141.3(GPD1L):c.396G>A (p.Lys132=) rs61741845
NM_015141.3(GPD1L):c.408C>T (p.Asp136=) rs9835387
NM_015141.3(GPD1L):c.465C>T (p.Ala155=) rs113645050
NM_015141.3(GPD1L):c.520G>A (p.Glu174Lys) rs112122950
NM_015141.3(GPD1L):c.573C>G (p.Thr191=) rs72558073
NM_015141.3(GPD1L):c.651C>T (p.Asp217=) rs149641866
NM_015141.3(GPD1L):c.691C>T (p.Arg231Cys) rs143486835
NM_015141.3(GPD1L):c.813G>T (p.Arg271=) rs35464343
NM_015141.3(GPD1L):c.817C>T (p.Arg273Cys) rs72552294
NM_015141.3(GPD1L):c.81T>C (p.Asn27=) rs34278284
NM_015141.3(GPD1L):c.839C>T (p.Ala280Val) rs72552291
NM_015141.3(GPD1L):c.876G>A (p.Glu292=) rs72546642
NM_015141.3(GPD1L):c.981G>A (p.Val327=) rs144877595
NM_017636.3(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325
NM_017636.3(TRPM4):c.1459_1494del36 (p.Lys487_Leu498del) rs878855029
NM_017636.3(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856
NM_018400.3(SCN3B):c.-9C>T rs553042856
NM_018400.3(SCN3B):c.198C>T (p.Pro66=) rs115752338
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_018400.3(SCN3B):c.438C>T (p.Thr146=) rs1275085
NM_198056.2(SCN5A):c.1008G>A (p.Pro336=) rs200285003
NM_198056.2(SCN5A):c.100C>T (p.Arg34Cys) rs6791924
NM_198056.2(SCN5A):c.103G>A (p.Gly35Ser) rs199473552
NM_198056.2(SCN5A):c.1044C>T (p.Pro348=) rs370346797
NM_198056.2(SCN5A):c.1050C>T (p.His350=) rs587781160
NM_198056.2(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_198056.2(SCN5A):c.1068T>C (p.Asp356=) rs41313703
NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097
NM_198056.2(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_198056.2(SCN5A):c.1127G>A (p.Arg376His) rs199473101
NM_198056.2(SCN5A):c.1141-3C>A rs41312433
NM_198056.2(SCN5A):c.1152C>T (p.Ser384=) rs372970828
NM_198056.2(SCN5A):c.1195C>T (p.Leu399=) rs369253900
NM_198056.2(SCN5A):c.1236C>T (p.Val412=) rs45565936
NM_198056.2(SCN5A):c.1302C>T (p.Phe434=) rs41313699
NM_198056.2(SCN5A):c.1333C>G (p.His445Asp) rs199473112
NM_198056.2(SCN5A):c.1335C>T (p.His445=) rs368045716
NM_198056.2(SCN5A):c.1338+2T>A rs786204839
NM_198056.2(SCN5A):c.1428_1431delCAAG (p.Ser476Argfs) rs794728906
NM_198056.2(SCN5A):c.1479G>A (p.Arg493=) rs138870926
NM_198056.2(SCN5A):c.1535C>T (p.Thr512Ile) rs199473118
NM_198056.2(SCN5A):c.1538G>A (p.Arg513His) rs397517951
NM_198056.2(SCN5A):c.1567C>T (p.Arg523Cys) rs199473119
NM_198056.2(SCN5A):c.1569T>A (p.Arg523=) rs41313693
NM_198056.2(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691
NM_198056.2(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_198056.2(SCN5A):c.1604G>A (p.Arg535Gln) rs199473121
NM_198056.2(SCN5A):c.1638T>C (p.Asp546=) rs771534167
NM_198056.2(SCN5A):c.1673A>G (p.His558Arg) rs1805124
NM_198056.2(SCN5A):c.1681C>T (p.Leu561=) rs45522138
NM_198056.2(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_198056.2(SCN5A):c.1734C>T (p.Pro578=) rs200868190
NM_198056.2(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_198056.2(SCN5A):c.1755C>T (p.His585=) rs201024847
NM_198056.2(SCN5A):c.1756_1761delGCCCTC (p.Ala586_Leu587del) rs397517953
NM_198056.2(SCN5A):c.1800G>A (p.Val600=) rs758101066
NM_198056.2(SCN5A):c.1821C>T (p.Gly607=) rs753835985
NM_198056.2(SCN5A):c.1842A>G (p.Pro614=) rs766696979
NM_198056.2(SCN5A):c.1891-8G>A rs12720064
NM_198056.2(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681
NM_198056.2(SCN5A):c.1993G>T (p.Ala665Ser) rs756474485
NM_198056.2(SCN5A):c.2013C>T (p.Ser671=) rs751050999
NM_198056.2(SCN5A):c.2014G>A (p.Ala672Thr) rs199473140
NM_198056.2(SCN5A):c.2103delG (p.Leu702Cysfs) rs794728911
NM_198056.2(SCN5A):c.2151G>A (p.Pro717=) rs191840835
NM_198056.2(SCN5A):c.2181C>T (p.Ile727=) rs186942072
NM_198056.2(SCN5A):c.21T>A (p.Pro7=) rs587781157
NM_198056.2(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_198056.2(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_198056.2(SCN5A):c.2259C>T (p.Asn753=) rs878911306
NM_198056.2(SCN5A):c.2364C>T (p.Ile788=) rs183177363
NM_198056.2(SCN5A):c.2437-5C>A rs72549411
NM_198056.2(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_198056.2(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584
NM_198056.2(SCN5A):c.2533delG (p.Val845Cysfs) rs794728912
NM_198056.2(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_198056.2(SCN5A):c.2770G>A (p.Val924Ile) rs199473177
NM_198056.2(SCN5A):c.2788-6C>T rs41260344
NM_198056.2(SCN5A):c.2865_2866delGA (p.Glu955Aspfs) rs756159737
NM_198056.2(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180
NM_198056.2(SCN5A):c.2911C>T (p.Arg971Cys) rs61737825
NM_198056.2(SCN5A):c.2957G>A (p.Arg986Gln) rs41313667
NM_198056.2(SCN5A):c.3010_3022delTGCATTGCCACCC (p.Cys1004Profs) rs1064792926
NM_198056.2(SCN5A):c.3047C>T (p.Thr1016Met) rs199473185
NM_198056.2(SCN5A):c.3068G>A (p.Arg1023His) rs199473592
NM_198056.2(SCN5A):c.3094G>A (p.Glu1032Lys) rs369565476
NM_198056.2(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617
NM_198056.2(SCN5A):c.3183A>G (p.Glu1061=) rs7430407
NM_198056.2(SCN5A):c.3228+6C>G rs368048551
NM_198056.2(SCN5A):c.3246G>A (p.Val1082=) rs41312407
NM_198056.2(SCN5A):c.3249C>T (p.Ser1083=) rs111422496
NM_198056.2(SCN5A):c.3262G>A (p.Ala1088Thr) rs369704754
NM_198056.2(SCN5A):c.3269C>T (p.Pro1090Leu) rs1805125
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198056.2(SCN5A):c.3347G>A (p.Arg1116Gln) rs369678002
NM_198056.2(SCN5A):c.3352C>T (p.Gln1118Ter) rs869025520
NM_198056.2(SCN5A):c.3363G>A (p.Ala1121=) rs9858585
NM_198056.2(SCN5A):c.3391-3T>C rs949932623
NM_198056.2(SCN5A):c.3391-7T>C rs41310769
NM_198056.2(SCN5A):c.3413A>C (p.Glu1138Ala) rs199473198
NM_198056.2(SCN5A):c.3539C>T (p.Ala1180Val) rs41310765
NM_198056.2(SCN5A):c.3540G>A (p.Ala1180=) rs370990219
NM_198056.2(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_198056.2(SCN5A):c.3621C>T (p.Phe1207=) rs184934308
NM_198056.2(SCN5A):c.3629T>C (p.Phe1210Ser) rs794728875
NM_198056.2(SCN5A):c.3666+10T>C rs200656652
NM_198056.2(SCN5A):c.3667-7T>A rs373156650
NM_198056.2(SCN5A):c.3718G>C (p.Glu1240Gln) rs199473211
NM_198056.2(SCN5A):c.3727G>A (p.Asp1243Asn) rs199473599
NM_198056.2(SCN5A):c.3751G>A (p.Val1251Met) rs199473600
NM_198056.2(SCN5A):c.3784G>A (p.Gly1262Ser) rs137854616
NM_198056.2(SCN5A):c.3840+1G>A rs1366120635
NM_198056.2(SCN5A):c.3873G>A (p.Leu1291=) rs41313033
NM_198056.2(SCN5A):c.3878T>C (p.Phe1293Ser) rs41311127
NM_198056.2(SCN5A):c.3912G>A (p.Thr1304=) rs764462471
NM_198056.2(SCN5A):c.3956G>T (p.Gly1319Val) rs199473220
NM_198056.2(SCN5A):c.3963+1G>A rs483353016
NM_198056.2(SCN5A):c.4000A>G (p.Ile1334Val) rs199473226
NM_198056.2(SCN5A):c.4070C>T (p.Ala1357Val) rs370588133
NM_198056.2(SCN5A):c.4071G>A (p.Ala1357=) rs187370816
NM_198056.2(SCN5A):c.4147C>T (p.Gln1383Ter) rs1553695282
NM_198056.2(SCN5A):c.4218G>A (p.Gly1406=) rs41311123
NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) rs137854612
NM_198056.2(SCN5A):c.4245+1G>C rs794728879
NM_198056.2(SCN5A):c.4282G>T (p.Ala1428Ser) rs200034939
NM_198056.2(SCN5A):c.42C>T (p.Arg14=) rs183988524
NM_198056.2(SCN5A):c.4302T>C (p.Tyr1434=) rs200556220
NM_198056.2(SCN5A):c.435C>T (p.Cys145=) rs587781159
NM_198056.2(SCN5A):c.436G>A (p.Val146Met) rs199473061
NM_198056.2(SCN5A):c.4437+13C>T rs148598985
NM_198056.2(SCN5A):c.4470G>A (p.Glu1490=) rs375026424
NM_198056.2(SCN5A):c.4478A>G (p.Lys1493Arg) rs199473260
NM_198056.2(SCN5A):c.4493T>C (p.Met1498Thr) rs199473263
NM_198056.2(SCN5A):c.4501C>G (p.Leu1501Val) rs199473266
NM_198056.2(SCN5A):c.4509C>T (p.Ser1503=) rs45548237
NM_198056.2(SCN5A):c.4748G>A (p.Arg1583His) rs199473621
NM_198056.2(SCN5A):c.4783G>A (p.Asp1595Asn) rs137854607
NM_198056.2(SCN5A):c.4788C>T (p.Phe1596=) rs141789366
NM_198056.2(SCN5A):c.4814-5C>T rs765962519
NM_198056.2(SCN5A):c.4824C>T (p.Leu1608=) rs45437099
NM_198056.2(SCN5A):c.4850_4852delTCT (p.Phe1617del) rs749697698
NM_198056.2(SCN5A):c.4859C>T (p.Thr1620Met) rs199473282
NM_198056.2(SCN5A):c.486C>T (p.Tyr162=) rs45489099
NM_198056.2(SCN5A):c.4894C>T (p.Arg1632Cys) rs878855292
NM_198056.2(SCN5A):c.4895G>A (p.Arg1632His) rs199473286
NM_198056.2(SCN5A):c.4911C>T (p.Ile1637=) rs200569112
NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His) rs28937316
NM_198056.2(SCN5A):c.4934C>T (p.Thr1645Met) rs199473288
NM_198056.2(SCN5A):c.4935G>A (p.Thr1645=) rs376150162
NM_198056.2(SCN5A):c.4981G>A (p.Gly1661Arg) rs199473292
NM_198056.2(SCN5A):c.5038G>A (p.Ala1680Thr) rs199473294
NM_198056.2(SCN5A):c.5175G>A (p.Pro1725=) rs372629753
NM_198056.2(SCN5A):c.5202C>T (p.Asn1734=) rs368980118
NM_198056.2(SCN5A):c.52C>T (p.Arg18Trp) rs199473044
NM_198056.2(SCN5A):c.5337G>A (p.Thr1779=) rs41311121
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) rs137854601
NM_198056.2(SCN5A):c.5367C>T (p.Asp1789=) rs375752426
NM_198056.2(SCN5A):c.5436G>A (p.Ser1812=) rs780761880
NM_198056.2(SCN5A):c.5454C>T (p.Ala1818=) rs370114378
NM_198056.2(SCN5A):c.5455G>A (p.Asp1819Asn) rs137854619
NM_198056.2(SCN5A):c.5457T>C (p.Asp1819=) rs1805126
NM_198056.2(SCN5A):c.5464_5467delTCTG (p.Glu1823Hisfs) rs794728924
NM_198056.2(SCN5A):c.5476C>T (p.Arg1826Cys) rs199473635
NM_198056.2(SCN5A):c.5494C>G (p.Gln1832Glu) rs199473320
NM_198056.2(SCN5A):c.5546A>G (p.His1849Arg) rs794728898
NM_198056.2(SCN5A):c.559A>G (p.Thr187Ala) rs869025517
NM_198056.2(SCN5A):c.5607C>T (p.Asp1869=) rs560476223
NM_198056.2(SCN5A):c.5712G>A (p.Ser1904=) rs376826051
NM_198056.2(SCN5A):c.5733C>T (p.Ala1911=) rs781163189
NM_198056.2(SCN5A):c.5770G>A (p.Ala1924Thr) rs137854603
NM_198056.2(SCN5A):c.5796G>A (p.Ala1932=) rs200594132
NM_198056.2(SCN5A):c.5802C>T (p.Ser1934=) rs375254452
NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) rs757532106
NM_198056.2(SCN5A):c.5885C>T (p.Pro1962Leu) rs199473638
NM_198056.2(SCN5A):c.5938G>T (p.Val1980Phe) rs772258197
NM_198056.2(SCN5A):c.6003C>T (p.Leu2001=) rs538707712
NM_198056.2(SCN5A):c.6010T>C (p.Phe2004Leu) rs41311117
NM_198056.2(SCN5A):c.6011T>C (p.Phe2004Ser) rs794728842
NM_198056.2(SCN5A):c.6014C>T (p.Pro2005Leu) rs779649600
NM_198056.2(SCN5A):c.6016C>G (p.Pro2006Ala) rs45489199
NM_198056.2(SCN5A):c.611+1G>A rs794728843
NM_198056.2(SCN5A):c.630G>A (p.Val210=) rs193922727
NM_198056.2(SCN5A):c.647C>T (p.Ser216Leu) rs41276525
NM_198056.2(SCN5A):c.656G>A (p.Arg219His) rs878855296
NM_198056.2(SCN5A):c.680T>C (p.Leu227Pro) rs760011764
NM_198056.2(SCN5A):c.687T>C (p.Thr229=) rs770390440
NM_198056.2(SCN5A):c.689T>C (p.Ile230Thr) rs199473073
NM_198056.2(SCN5A):c.717C>T (p.Ile239=) rs41285129
NM_198056.2(SCN5A):c.80G>A (p.Arg27His) rs199473045
NM_198056.2(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_198056.2(SCN5A):c.856G>T (p.Ala286Ser) rs61746118
NM_198056.2(SCN5A):c.87A>G (p.Ala29=) rs6599230
NM_198056.2(SCN5A):c.885G>A (p.Glu295=) rs373342830
NM_198056.2(SCN5A):c.954C>T (p.Asn318=) rs372623225
NM_201590.2(CACNB2):c.*10G>T rs4747352
NM_201590.2(CACNB2):c.1044+6T>C rs147857449
NM_201590.2(CACNB2):c.1356C>T (p.Arg452=) rs34813638
NM_201590.2(CACNB2):c.1398T>C (p.Pro466=) rs150280879
NM_201590.2(CACNB2):c.1508C>T (p.Ser503Leu) rs137886839
NM_201590.2(CACNB2):c.1539C>T (p.Tyr513=) rs2228645
NM_201590.2(CACNB2):c.1557T>C (p.Asp519=) rs781283574
NM_201590.2(CACNB2):c.1623C>T (p.His541=) rs61733967
NM_201590.2(CACNB2):c.1632T>C (p.Ser544=) rs34503140
NM_201590.2(CACNB2):c.1654C>G (p.Arg552Gly) rs61733968
NM_201590.2(CACNB2):c.1803T>G (p.Asp601Glu) rs58225473
NM_201590.2(CACNB2):c.192G>A (p.Ala64=) rs182163363
NM_201590.2(CACNB2):c.711G>A (p.Leu237=) rs138423466
NM_201590.2(CACNB2):c.831G>A (p.Ser277=) rs76956014
NM_201590.2(CACNB2):c.892+7C>T rs4314963
NM_201590.2(CACNB2):c.978T>C (p.His326=) rs151199943

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