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 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
410 158 4 44 49 1 14 90

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 association drug response
pathogenic 4 5 10 6 3 0 0
likely pathogenic 5 0 2 0 0 0 0
uncertain significance 11 3 0 47 16 1 1
likely benign 6 0 46 0 39 0 0
benign 3 0 15 39 0 0 0

All variants with conflicting interpretations #

Total variants: 90
Download table as spreadsheet
HGVS dbSNP
NM_001365536.1(SCN9A):c.1109C>T (p.Thr370Met) rs200391162
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203
NM_001365536.1(SCN9A):c.1149C>T (p.Val383=) rs794726989
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.1208T>C (p.Met403Thr) rs199986805
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.1287T>A (p.Arg429=) rs6747673
NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=) rs200065104
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) rs201990547
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.1482G>T (p.Lys494Asn) rs777699798
NM_001365536.1(SCN9A):c.1554C>T (p.Val518=) rs201054032
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572
NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His) rs199748300
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=) rs200876333
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu) rs200671761
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr) rs121908918
NM_001365536.1(SCN9A):c.1979C>T (p.Thr660Met) rs200965749
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.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.2496A>C (p.Ser832=) rs200185692
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.2649C>T (p.Val883=) rs200618289
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp) rs202152511
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.3019C>T (p.Arg1007Cys) rs121908910
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) rs188145203
NM_001365536.1(SCN9A):c.3036A>G (p.Lys1012=) rs200375962
NM_001365536.1(SCN9A):c.3051G>C (p.Lys1017Asn) rs147623238
NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=) rs111674454
NM_001365536.1(SCN9A):c.3329C>T (p.Ser1110Leu) rs145258166
NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) rs200817435
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.3402G>T (p.Leu1134Phe) rs200160858
NM_001365536.1(SCN9A):c.3403C>T (p.Pro1135Ser) rs184563685
NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr) rs151241025
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr) rs73019664
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.3759T>C (p.Tyr1253=) rs201640757
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748
NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs) rs606231279
NM_001365536.1(SCN9A):c.4110T>C (p.Cys1370=) rs199673396
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294
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.4413C>T (p.Asp1471=) rs727504144
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.4733G>A (p.Trp1578Ter) rs200070962
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258
NM_001365536.1(SCN9A):c.4868T>C (p.Leu1623Pro) rs1131691776
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
NM_001365536.1(SCN9A):c.5791G>C (p.Asp1931His) rs200410805
NM_001365536.1(SCN9A):c.5949C>G (p.Ser1983Arg) rs201640210
NM_002977.3(SCN9A):c.1314+1G>T rs1295192882
NM_002977.3(SCN9A):c.1942-3del rs35888674
NM_002977.3(SCN9A):c.1942-8T>A rs752961542
NM_002977.3(SCN9A):c.2484+6C>T rs145316463
NM_002977.3(SCN9A):c.3769-4A>G rs75230218
NM_002977.3(SCN9A):c.4366-14G>T rs112927502
NM_002977.3(SCN9A):c.4470+1G>T rs746241591
NM_002977.3(SCN9A):c.4470+8_4470+9insT rs767624579
Single allele

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