ClinVar Miner

Variants in gene SCN1A 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
570 91 1 29 24 1 17 66

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 drug response risk factor
pathogenic 0 13 8 1 1 0 0
likely pathogenic 13 0 10 1 1 0 0
uncertain significance 8 10 1 21 7 0 0
likely benign 1 1 21 0 17 0 0
benign 1 1 7 17 0 0 0
drug response 0 0 0 0 0 0 1
risk factor 0 0 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 66
Download table as spreadsheet
HGVS dbSNP
NM_001165963.1(SCN1A):c.1000C>G (p.Leu334Val) rs201870762
NM_001165963.1(SCN1A):c.1065T>C (p.Gly355=) rs757535449
NM_001165963.1(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.1(SCN1A):c.1131A>C (p.Arg377=) rs114137271
NM_001165963.1(SCN1A):c.1150T>A (p.Trp384Arg) rs1057523858
NM_001165963.1(SCN1A):c.1171-10_1171-9delTT rs372840031
NM_001165963.1(SCN1A):c.1212A>G (p.Val404=) rs7580482
NM_001165963.1(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.1(SCN1A):c.1378-3T>C rs150964803
NM_001165963.1(SCN1A):c.1410C>T (p.Ser470=) rs142571794
NM_001165963.1(SCN1A):c.144C>T (p.Gly48=) rs886043534
NM_001165963.1(SCN1A):c.1499G>A (p.Arg500Gln) rs200176684
NM_001165963.1(SCN1A):c.1662+9C>A rs7559148
NM_001165963.1(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_001165963.1(SCN1A):c.1818T>C (p.Asp606=) rs727504141
NM_001165963.1(SCN1A):c.2044-5delT rs549232924
NM_001165963.1(SCN1A):c.2044-5dupT rs549232924
NM_001165963.1(SCN1A):c.2176+11A>C rs201604887
NM_001165963.1(SCN1A):c.2292T>C (p.Val764=) rs6432860
NM_001165963.1(SCN1A):c.2378C>T (p.Thr793Met) rs762038032
NM_001165963.1(SCN1A):c.2421C>T (p.Phe807=) rs145101180
NM_001165963.1(SCN1A):c.2594G>A (p.Arg865Gln) rs1057517862
NM_001165963.1(SCN1A):c.265-4A>G rs776470979
NM_001165963.1(SCN1A):c.2729A>G (p.Gln910Arg) rs1064795735
NM_001165963.1(SCN1A):c.2839G>A (p.Val947Met) rs796052986
NM_001165963.1(SCN1A):c.2889T>C (p.Ala963=) rs144679294
NM_001165963.1(SCN1A):c.2941C>A (p.Leu981Ile) rs1057518112
NM_001165963.1(SCN1A):c.2985T>G (p.Phe995Leu) rs794726746
NM_001165963.1(SCN1A):c.3060C>A (p.His1020Gln) rs150154265
NM_001165963.1(SCN1A):c.333A>G (p.Leu111=) rs201592683
NM_001165963.1(SCN1A):c.345T>C (p.Asn115=) rs61741123
NM_001165963.1(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001165963.1(SCN1A):c.579C>T (p.Leu193=) rs116478064
NM_001165963.1(SCN1A):c.602+2dupT rs796053054
NM_001165963.1(SCN1A):c.68C>T (p.Ala23Val) rs139397227
NM_001165963.1(SCN1A):c.694+10A>G rs373417440
NM_001165963.1(SCN1A):c.694+5G>C rs727504142
NM_001165963.1(SCN1A):c.769T>C (p.Cys257Arg) rs794726771
NM_001165963.1(SCN1A):c.791T>C (p.Ile264Thr) rs745664511
NM_001165963.1(SCN1A):c.852T>C (p.Asn284=) rs748747434
NM_001165963.1(SCN1A):c.90A>G (p.Ala30=) rs750748658
NM_001165963.1(SCN1A):c.965-1G>A rs794726824
NM_001165963.2(SCN1A):c.1329A>G (p.Glu443=) rs1553546728
NM_001165963.2(SCN1A):c.1680T>C (p.Arg560=) rs145662732
NM_001165963.2(SCN1A):c.1797G>A (p.Glu599=) rs145035963
NM_001165963.2(SCN1A):c.1803C>T (p.Asn601=) rs139403702
NM_001165963.2(SCN1A):c.2590C>T (p.Leu864=) rs140035595
NM_001165963.2(SCN1A):c.2665G>A (p.Ala889Thr) rs1266877537
NM_001165963.2(SCN1A):c.2T>C (p.Met1Thr) rs1553561023
NM_001165963.2(SCN1A):c.3039A>G (p.Gln1013=) rs780391343
NM_001165963.2(SCN1A):c.974_976delATT (p.Tyr325del) rs1553548194
NM_001165963.2(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001202435.2(SCN1A):c.602+1G>A rs794726827
NM_006920.4(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_006920.4(SCN1A):c.1216G>T (p.Val406Phe) rs121918768
NM_006920.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_006920.4(SCN1A):c.2552G>A (p.Arg851Gln) rs121918785
NM_006920.4(SCN1A):c.2591C>T (p.Thr864Met) rs121918623
NM_006920.4(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_006920.4(SCN1A):c.2758C>T (p.Arg920Cys) rs121918788
NM_006920.4(SCN1A):c.603-91G>A rs3812718
NM_006920.4(SCN1A):c.80G>C (p.Arg27Thr) rs121917906
NM_006920.5(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_006920.5(SCN1A):c.563A>T (p.Asp188Val) rs121917953
NM_006920.5(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817

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