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 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
1017 92 0 30 29 0 19 70

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 12 7 0 0
likely pathogenic 12 0 13 0 1
uncertain significance 7 13 0 25 9
likely benign 0 0 25 0 18
benign 0 1 9 18 0

All variants with conflicting interpretations #

Total variants: 70
Download table as spreadsheet
HGVS dbSNP
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) rs121918818
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771
NM_001165963.4(SCN1A):c.3330T>C (p.Ser1110=) rs587781145
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458
NM_001165963.4(SCN1A):c.3498G>A (p.Gln1166=) rs145410000
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799
NM_001165963.4(SCN1A):c.3556G>T (p.Val1186Leu) rs780607306
NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=) rs138181528
NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=) rs371596040
NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln) rs794726854
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp) rs1553532470
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=) rs369688121
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro) rs398123592
NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=) rs375896308
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=) rs149579028
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro) rs794726821
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674
NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His) rs1295072436
NM_001165963.4(SCN1A):c.4319C>T (p.Ala1440Val) rs1559122124
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=) rs78041051
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe) rs377325221
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) rs121917915
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445
NM_001165963.4(SCN1A):c.4905C>T (p.Phe1635=) rs774858072
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu) rs397514458
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) rs121918629
NM_001165963.4(SCN1A):c.5168C>T (p.Ser1723Phe) rs796053099
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058
NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser) rs797045940
NM_001165963.4(SCN1A):c.5346C>T (p.Ile1782=) rs121918763
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=) rs886043063
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser) rs794727415
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) rs121918793
NM_001165963.4(SCN1A):c.5766T>C (p.Ile1922=) rs587781149
NM_001165963.4(SCN1A):c.5809C>G (p.Gln1937Glu) rs1358776988
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053
NM_001165963.4(SCN1A):c.5877G>T (p.Met1959Ile) rs763997333
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308
NM_006920.6(SCN1A):c.3672+10del rs570862962
NM_006920.6(SCN1A):c.3672+5G>A rs1060502189
NM_006920.6(SCN1A):c.3846+5G>A rs796052999
NM_006920.6(SCN1A):c.4306-5G>A rs1057522587
NM_006920.6(SCN1A):c.4395C>A (p.Asn1465Lys) rs1573984110
NM_006920.6(SCN1A):c.4444-2A>G rs863225036
NM_006920.6(SCN1A):c.5228G>A (p.Gly1743Glu) rs796053036

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