ClinVar Miner

Variants in gene combination LOC102724058, SCN1A with conflicting interpretations

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X axis minimum submission review status: X axis collection method:
Minimum conflict level:
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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
642 130 0 34 33 0 18 73

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 0 11 4 1 1
likely pathogenic 11 0 16 3 1
uncertain significance 4 16 0 29 10
likely benign 1 3 29 0 23
benign 1 1 10 23 0

All variants with conflicting interpretations #

Total variants: 73
Download table as spreadsheet
NM_006920.6(SCN1A):c.3068T>C (p.Ile1023Thr) rs121918818
NM_006920.6(SCN1A):c.3166G>A (p.Ala1056Thr) rs2298771
NM_006920.6(SCN1A):c.3297T>C (p.Ser1099=) rs587781145
NM_006920.6(SCN1A):c.3448G>A (p.Ala1150Thr) rs201079458
NM_006920.6(SCN1A):c.3465G>A (p.Gln1155=) rs145410000
NM_006920.6(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006920.6(SCN1A):c.3523G>T (p.Val1175Leu) rs780607306
NM_006920.6(SCN1A):c.3540T>C (p.Cys1180=) rs750943685
NM_006920.6(SCN1A):c.3552T>C (p.Asn1184=) rs138181528
NM_006920.6(SCN1A):c.3558A>G (p.Glu1186=) rs371596040
NM_006920.6(SCN1A):c.3665G>A (p.Gly1222Asp) rs1553532470
NM_006920.6(SCN1A):c.3672+10del rs570862962
NM_006920.6(SCN1A):c.3672+5G>A rs1060502189
NM_006920.6(SCN1A):c.3681A>C (p.Glu1227Asp) rs121917973
NM_006920.6(SCN1A):c.3690T>C (p.Tyr1230=) rs36031496
NM_006920.6(SCN1A):c.3699G>A (p.Gln1233=) rs369688121
NM_006920.6(SCN1A):c.3701G>A (p.Arg1234Gln) rs121917912
NM_006920.6(SCN1A):c.3716C>T (p.Thr1239Met) rs140731963
NM_006920.6(SCN1A):c.3743T>C (p.Phe1248Ser) rs398123591
NM_006920.6(SCN1A):c.3785C>T (p.Ala1262Val) rs794726841
NM_006920.6(SCN1A):c.3846+5G>A rs796052999
NM_006920.6(SCN1A):c.3853T>C (p.Leu1285=) rs375896308
NM_006920.6(SCN1A):c.3866C>T (p.Thr1289Ile) rs146878122
NM_006920.6(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.6(SCN1A):c.3915G>A (p.Arg1305=) rs149579028
NM_006920.6(SCN1A):c.4096A>G (p.Ile1366Val) rs762317674
NM_006920.6(SCN1A):c.4138A>C (p.Asn1380His) rs1295072436
NM_006920.6(SCN1A):c.4288G>A (p.Ala1430Thr) rs121917974
NM_006920.6(SCN1A):c.4306-5G>A rs1057522587
NM_006920.6(SCN1A):c.4319C>T (p.Pro1440Leu) rs121917945
NM_006920.6(SCN1A):c.4360A>G (p.Ile1454Val) rs138231868
NM_006920.6(SCN1A):c.4514C>T (p.Ser1505Leu) rs139300715
NM_006920.6(SCN1A):c.4515G>A (p.Ser1505=) rs78041051
NM_006920.6(SCN1A):c.4518A>G (p.Lys1506=) rs374087499
NM_006920.6(SCN1A):c.4523C>T (p.Pro1508Leu) rs372425457
NM_006920.6(SCN1A):c.4524G>A (p.Pro1508=) rs368785509
NM_006920.6(SCN1A):c.4548+12C>T rs886055042
NM_006920.6(SCN1A):c.4690C>T (p.Arg1564Cys) rs121918807
NM_006920.6(SCN1A):c.4691G>A (p.Arg1564His) rs368834365
NM_006920.6(SCN1A):c.4698T>C (p.Asn1566=) rs145296488
NM_006920.6(SCN1A):c.4729T>C (p.Cys1577Arg) rs121917919
NM_006920.6(SCN1A):c.4754G>A (p.Arg1585His) rs575368466
NM_006920.6(SCN1A):c.4760A>T (p.Tyr1587Phe) rs377325221
NM_006920.6(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.6(SCN1A):c.4822A>G (p.Met1608Val) rs373967247
NM_006920.6(SCN1A):c.4839G>A (p.Leu1613=) rs142910512
NM_006920.6(SCN1A):c.4854C>T (p.Phe1618=) rs587780445
NM_006920.6(SCN1A):c.4872C>T (p.Phe1624=) rs774858072
NM_006920.6(SCN1A):c.4874G>A (p.Arg1625Gln) rs121917995
NM_006920.6(SCN1A):c.4880T>A (p.Ile1627Asn) rs1057521079
NM_006920.6(SCN1A):c.4912C>T (p.Leu1638=) rs148546224
NM_006920.6(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.6(SCN1A):c.4964C>T (p.Ser1655Phe) rs794726760
NM_006920.6(SCN1A):c.5033T>C (p.Met1678Thr) rs1559104676
NM_006920.6(SCN1A):c.5088T>A (p.Phe1696Leu) rs796053033
NM_006920.6(SCN1A):c.5098G>A (p.Gly1700Ser) rs796053098
NM_006920.6(SCN1A):c.5184C>T (p.Pro1728=) rs149315236
NM_006920.6(SCN1A):c.5253A>G (p.Gly1751=) rs150570058
NM_006920.6(SCN1A):c.5273A>G (p.Tyr1758Cys) rs886039460
NM_006920.6(SCN1A):c.5313C>T (p.Ile1771=) rs121918763
NM_006920.6(SCN1A):c.5385G>A (p.Glu1795=) rs140237315
NM_006920.6(SCN1A):c.5499A>G (p.Pro1833=) rs886043063
NM_006920.6(SCN1A):c.5530C>T (p.Pro1844Ser) rs794727415
NM_006920.6(SCN1A):c.5535G>A (p.Met1845Ile) rs144691638
NM_006920.6(SCN1A):c.5599_5601delinsAAT (p.Glu1867Asn)
NM_006920.6(SCN1A):c.5693C>T (p.Thr1898Ile) rs121918793
NM_006920.6(SCN1A):c.5733T>C (p.Ile1911=) rs587781149
NM_006920.6(SCN1A):c.5749C>G (p.Arg1917Gly) rs121917956
NM_006920.6(SCN1A):c.5764del (p.Arg1922fs) rs587780446
NM_006920.6(SCN1A):c.5776C>G (p.Gln1926Glu) rs1358776988
NM_006920.6(SCN1A):c.5831T>C (p.Ile1944Thr) rs35735053
NM_006920.6(SCN1A):c.5844G>T (p.Met1948Ile) rs763997333
NM_006920.6(SCN1A):c.5918C>A (p.Pro1973His) rs146733308

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