ClinVar Miner

Variants in gene SCN5A with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
810 334 2 110 77 1 70 223

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.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 39 32 8 3 1
likely pathogenic 40 1 45 1 0 0
uncertain significance 32 44 1 65 31 1
likely benign 8 0 65 0 70 1
benign 3 0 31 70 0 1
risk factor 1 0 1 1 1 0

All variants with conflicting interpretations #

Total variants: 223
Download table as spreadsheet
HGVS dbSNP
NM_000335.4(SCN5A):c.1282G>A (p.Glu428Lys) rs199473111
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.5690G>A (p.Arg1897His) rs370694515
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_001099404.1(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230
NM_001099404.1(SCN5A):c.3954G>A (p.Glu1318=) rs769473892
NM_001099404.1(SCN5A):c.892G>A (p.Gly298Ser) rs137854608
NM_001160160.1(SCN5A):c.4900G>A (p.Val1634Ile) rs199473293
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.1065C>T (p.Phe355=) rs45570333
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.1247A>G (p.Tyr416Cys) rs372395294
NM_198056.2(SCN5A):c.1273G>A (p.Ala425Thr) rs761117662
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.1595T>G (p.Phe532Cys) rs199473573
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.1705C>G (p.Arg569Gly) rs199473576
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.1890G>A (p.Thr630=) rs1204915217
NM_198056.2(SCN5A):c.1891-8G>A rs12720064
NM_198056.2(SCN5A):c.1963G>A (p.Glu655Lys) rs199473579
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.2001C>T (p.Ser667=) rs587781161
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.2431C>T (p.Arg811Cys) rs794728864
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.2496C>T (p.Ile832=)
NM_198056.2(SCN5A):c.2533delG (p.Val845Cysfs) rs794728912
NM_198056.2(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_198056.2(SCN5A):c.2632C>T (p.Arg878Cys) rs199473168
NM_198056.2(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_198056.2(SCN5A):c.268C>A (p.Gln90Lys) rs794728839
NM_198056.2(SCN5A):c.2770G>A (p.Val924Ile) rs199473177
NM_198056.2(SCN5A):c.283G>A (p.Val95Ile) rs199473054
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.3694C>T (p.Arg1232Trp) rs199473207
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.3882C>T (p.Ala1294=) rs372132916
NM_198056.2(SCN5A):c.3883G>A (p.Glu1295Lys) rs199473218
NM_198056.2(SCN5A):c.3912G>A (p.Thr1304=) rs764462471
NM_198056.2(SCN5A):c.393-5C>T rs368678204
NM_198056.2(SCN5A):c.3956G>T (p.Gly1319Val) rs199473220
NM_198056.2(SCN5A):c.3963+1G>A rs483353016
NM_198056.2(SCN5A):c.3988G>A (p.Ala1330Thr) rs199473224
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.4086G>A (p.Arg1362=) rs377173580
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.4300-14T>C rs56104887
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.4719C>T (p.Gly1573=) rs754221948
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.4877G>A (p.Arg1626His) rs199473283
NM_198056.2(SCN5A):c.4886G>A (p.Arg1629Gln) rs199473623
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.4978A>G (p.Ile1660Val) rs199473625
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.5064C>T (p.Ile1688=) rs145731678
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.5320A>T (p.Asn1774Tyr) rs199473633
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.5378T>A (p.Met1793Lys) rs794728897
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.568C>G (p.Arg190Gly) rs199473068
NM_198056.2(SCN5A):c.5712G>A (p.Ser1904=) rs376826051
NM_198056.2(SCN5A):c.5726A>G (p.Gln1909Arg) rs199473326
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.5830C>T (p.Arg1944Ter) rs794728940
NM_198056.2(SCN5A):c.5851G>A (p.Val1951Met) rs41315493
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.612-196G>A rs45475402
NM_198056.2(SCN5A):c.612-233G>C rs1553706324
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.739G>C (p.Val247Leu) rs199473078
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
Single allele rs1553699607

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