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
2005 151 0 52 34 0 19 95

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 26 2 0 0
likely pathogenic 26 0 17 1 0
uncertain significance 2 17 0 30 12
likely benign 0 1 30 0 26
benign 0 0 12 26 0

All variants with conflicting interpretations #

Total variants: 95
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_001165963.4(SCN1A):c.3705+33T>G rs76743139 0.00915
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) rs121918818 0.00084
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=) rs149579028 0.00073
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512 0.00048
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00047
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058 0.00040
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638 0.00038
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 0.00019
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674 0.00016
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=) rs371596040 0.00014
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=) rs149315236 0.00014
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405 0.00011
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973 0.00008
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509 0.00008
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445 0.00008
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=) rs369688121 0.00006
NM_001165963.4(SCN1A):c.4570C>A (p.Pro1524Thr) rs143088184 0.00006
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365 0.00006
NM_001165963.4(SCN1A):c.4905C>T (p.Phe1635=) rs774858072 0.00005
NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=) rs138181528 0.00004
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715 0.00003
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_001165963.4(SCN1A):c.3220G>A (p.Asp1074Asn) rs751514645 0.00002
NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=) rs375896308 0.00002
NM_001165963.4(SCN1A):c.4284+7G>A rs745918943 0.00002
NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser) rs1373733895 0.00001
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val) rs779306054 0.00001
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591 0.00001
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe) rs121918801 0.00001
NM_001165963.4(SCN1A):c.4524T>C (p.Tyr1508=) rs778620898 0.00001
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247 0.00001
NM_001165963.4(SCN1A):c.5346C>T (p.Ile1782=) rs121918763 0.00001
NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=) rs886043063 0.00001
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341 0.00001
NM_001165963.4(SCN1A):c.5963G>A (p.Arg1988Gln) rs769477807 0.00001
NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val) rs751750112 0.00001
NM_001165963.4(SCN1A):c.3429+1G>T rs1574166948
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=) rs796052994
NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr) rs1574060743
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp) rs1553532470
NM_001165963.4(SCN1A):c.3705+10del rs570862962
NM_001165963.4(SCN1A):c.3705+5G>A rs1060502189
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro) rs398123592
NM_001165963.4(SCN1A):c.3879+5G>A rs796052999
NM_001165963.4(SCN1A):c.3879+5G>T rs796052999
NM_001165963.4(SCN1A):c.4002+2420G>A
NM_001165963.4(SCN1A):c.4003-1G>A rs1574007140
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro) rs1553525337
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met) rs1574006637
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp) rs1691073965
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe) rs1690574155
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn) rs1573991676
NM_001165963.4(SCN1A):c.4338+5G>A rs796053011
NM_001165963.4(SCN1A):c.4339-5G>A rs1057522587
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001165963.4(SCN1A):c.4548del (p.Lys1518fs) rs796053081
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001165963.4(SCN1A):c.4581+5G>C rs1559114303
NM_001165963.4(SCN1A):c.4582-2A>G rs2105449932
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp) rs2105449751
NM_001165963.4(SCN1A):c.4783_4784del (p.Leu1595fs) rs1689682880
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) rs121917915
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro) rs1573953706
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
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.5008T>C (p.Leu1670=)
NM_001165963.4(SCN1A):c.5053G>T (p.Ala1685Ser) rs760249153
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
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.5177G>A (p.Trp1726Ter)
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn) rs796053035
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu) rs796053036
NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser) rs797045940
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser) rs794727415
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) rs121918793
NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp) rs756519197

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