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 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
1757 222 0 103 73 1 46 189

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 27 14 4 1 0
likely pathogenic 27 0 33 2 0 0
uncertain significance 14 33 0 63 24 0
likely benign 4 2 63 0 76 1
benign 1 0 24 76 0 1
risk factor 0 0 0 1 1 0

All variants with conflicting interpretations #

Total variants: 189
Download table as spreadsheet
HGVS dbSNP
NM_000335.4(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000335.4(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899
NM_000335.4(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.4(SCN5A):c.3570G>A (p.Trp1190Ter) rs1237724419
NM_000335.4(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616
NM_000335.4(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031
NM_000335.4(SCN5A):c.393-5C>A rs368678204
NM_000335.4(SCN5A):c.5461_5464del (p.Glu1822fs) rs794728924
NM_000335.4(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000335.4(SCN5A):c.694G>A (p.Val232Ile) rs45471994
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys) rs6791924
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703
NM_000335.5(SCN5A):c.1141-3C>A rs41312433
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828
NM_000335.5(SCN5A):c.1195C>T (p.Leu399=) rs369253900
NM_000335.5(SCN5A):c.1236C>T (p.Val412=) rs45565936
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138
NM_000335.5(SCN5A):c.1714G>T (p.Ala572Ser) rs184442491
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val) rs36210423
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217
NM_000335.5(SCN5A):c.1891-8G>A rs12720064
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) rs751050999
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.5(SCN5A):c.2437-13C>T rs45455099
NM_000335.5(SCN5A):c.2437-5C>A rs72549411
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile) rs199473177
NM_000335.5(SCN5A):c.2777G>A (p.Gly926Asp)
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.5(SCN5A):c.3508+10C>T rs41258454
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.5(SCN5A):c.3618C>T (p.Phe1206=) rs184934308
NM_000335.5(SCN5A):c.3663+10T>C rs200656652
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn) rs199473599
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met) rs199473600
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127
NM_000335.5(SCN5A):c.3879C>T (p.Ala1293=) rs372132916
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=) rs200334972
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.5(SCN5A):c.4009CTC[1] (p.Leu1338del) rs1559732656
NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=) rs377173580
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del) rs794728922
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939
NM_000335.5(SCN5A):c.4297-14T>C rs56104887
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=) rs200556220
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691
NM_000335.5(SCN5A):c.4745G>A (p.Arg1582His) rs199473621
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=) rs45437099
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099
NM_000335.5(SCN5A):c.5061C>T (p.Ile1687=) rs145731678
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=) rs368980118
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter) rs1480085793
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126
NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=) rs560476223
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233
NM_000335.5(SCN5A):c.5793G>A (p.Ala1931=) rs200594132
NM_000335.5(SCN5A):c.5799C>T (p.Ser1933=) rs375254452
NM_000335.5(SCN5A):c.5847C>T (p.Tyr1949=) rs367778922
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu) rs199473638
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561
NM_000335.5(SCN5A):c.703+6A>G rs781104838
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser) rs61746118
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) rs137854608
NM_000335.5(SCN5A):c.954C>T (p.Asn318=) rs372623225
NM_198056.2(SCN5A):c.1008G>A (p.Pro336=) rs200285003
NM_198056.2(SCN5A):c.103G>A (p.Gly35Ser) rs199473552
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.1127G>A (p.Arg376His) rs199473101
NM_198056.2(SCN5A):c.1281C>T (p.Thr427=) rs375989197
NM_198056.2(SCN5A):c.1535C>T (p.Thr512Ile) rs199473118
NM_198056.2(SCN5A):c.1575C>T (p.Ser525=) rs370684004
NM_198056.2(SCN5A):c.1595T>G (p.Phe532Cys) rs199473573
NM_198056.2(SCN5A):c.1755C>T (p.His585=) rs201024847
NM_198056.2(SCN5A):c.1756_1761del (p.Ala586_Leu587del) rs397517953
NM_198056.2(SCN5A):c.1800G>A (p.Val600=) rs758101066
NM_198056.2(SCN5A):c.1842A>G (p.Pro614=) rs766696979
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.2014G>A (p.Ala672Thr) rs199473140
NM_198056.2(SCN5A):c.2151G>A (p.Pro717=) rs191840835
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.2431C>T (p.Arg811Cys) rs794728864
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.310C>T (p.Arg104Trp) rs199473055
NM_198056.2(SCN5A):c.3391-16A>T rs376625229
NM_198056.2(SCN5A):c.3391-3T>C rs949932623
NM_198056.2(SCN5A):c.3391-7T>C rs41310769
NM_198056.2(SCN5A):c.3404G>T (p.Ser1135Ile) rs557957405
NM_198056.2(SCN5A):c.3539C>T (p.Ala1180Val) rs41310765
NM_198056.2(SCN5A):c.360C>T (p.Ile120=) rs587781158
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.373G>C (p.Val125Leu) rs199473059
NM_198056.2(SCN5A):c.3798C>T (p.Tyr1266=) rs371610895
NM_198056.2(SCN5A):c.3810C>T (p.Ala1270=) rs367927086
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.3954G>A (p.Glu1318=) rs769473892
NM_198056.2(SCN5A):c.3988G>A (p.Ala1330Thr) rs199473224
NM_198056.2(SCN5A):c.4008C>T (p.Asn1336=) rs746892102
NM_198056.2(SCN5A):c.4070C>T (p.Ala1357Val) rs370588133
NM_198056.2(SCN5A):c.4170C>T (p.Thr1390=) rs747356664
NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) rs137854612
NM_198056.2(SCN5A):c.4246-4C>T rs772447988
NM_198056.2(SCN5A):c.4296G>A (p.Arg1432=) rs199473246
NM_198056.2(SCN5A):c.435C>T (p.Cys145=) rs587781159
NM_198056.2(SCN5A):c.4404C>T (p.Val1468=) rs766197312
NM_198056.2(SCN5A):c.4470G>A (p.Glu1490=) rs375026424
NM_198056.2(SCN5A):c.4719C>T (p.Gly1573=) rs754221948
NM_198056.2(SCN5A):c.4813+3_4813+6dup
NM_198056.2(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_198056.2(SCN5A):c.4859C>T (p.Thr1620Met) rs199473282
NM_198056.2(SCN5A):c.4877G>A (p.Arg1626His) rs199473283
NM_198056.2(SCN5A):c.4885C>T (p.Arg1629Ter) rs199473284
NM_198056.2(SCN5A):c.4911C>T (p.Ile1637=) rs200569112
NM_198056.2(SCN5A):c.4912C>T (p.Arg1638Ter) rs761505217
NM_198056.2(SCN5A):c.4917G>A (p.Gly1639=) rs1419998623
NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His) rs28937316
NM_198056.2(SCN5A):c.4935G>A (p.Thr1645=) rs376150162
NM_198056.2(SCN5A):c.495C>T (p.Thr165=) rs62242804
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.5126C>T (p.Thr1709Met) rs199473297
NM_198056.2(SCN5A):c.5129C>T (p.Ser1710Leu) rs137854604
NM_198056.2(SCN5A):c.5175G>A (p.Pro1725=) rs372629753
NM_198056.2(SCN5A):c.5286C>T (p.Ile1762=) rs375323548
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.5367C>T (p.Asp1789=) rs375752426
NM_198056.2(SCN5A):c.5378T>A (p.Met1793Lys) rs794728897
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.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.5770G>A (p.Ala1924Thr) rs137854603
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.6010T>G (p.Phe2004Val) rs41311117
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.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.934+4C>T rs182050752

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