ClinVar Miner

Variants in gene combination SCN1A, SCN9A with conflicting interpretations

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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
967 54 3 31 28 0 2 57

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
pathogenic 3 1 0 1 1
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 25 8
likely benign 1 0 25 0 30
benign 1 0 8 30 0

All variants with conflicting interpretations #

Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962
NM_001365536.1(SCN9A):c.1177C>T (p.Leu393=) rs184773311
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys) rs200415928
NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys) rs763256222
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673
NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=) rs200065104
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr) rs121908918
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001365536.1(SCN9A):c.1975-8T>A rs752961542
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919
NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His) rs200374987
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys) rs202055175
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354
NM_001365536.1(SCN9A):c.2409T>C (p.Tyr803=) rs142219317
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) rs41268671
NM_001365536.1(SCN9A):c.2517+6C>T rs145316463
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr) rs80356474
NM_001365536.1(SCN9A):c.2605C>T (p.Leu869Phe) rs80356476
NM_001365536.1(SCN9A):c.2606T>A (p.Leu869His) rs80356475
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=) rs199653503
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=) rs201430964
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) rs188145203
NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=) rs111674454
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238
NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr) rs151241025
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) rs144941725
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064
NM_001365536.1(SCN9A):c.4356C>T (p.Phe1452=) rs201145311
NM_001365536.1(SCN9A):c.4378T>G (p.Phe1460Val) rs80356478
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) rs187558439
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg) rs202084411
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=) rs199550149
NM_001365536.1(SCN9A):c.4941C>T (p.Ile1647=) rs747837371
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) rs79805025
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968

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