ClinVar Miner

Variants in gene MEFV with conflicting interpretations

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
247 62 2 29 25 0 10 51

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 7 9 4 3
likely pathogenic 7 0 5 3 3
uncertain significance 9 5 2 17 13
likely benign 4 3 17 0 23
benign 3 3 13 23 0

All variants with conflicting interpretations #

Total variants: 51
Download table as spreadsheet
HGVS dbSNP
NM_000243.2(MEFV):c.*9C>T rs11466048
NM_000243.2(MEFV):c.-15C>G rs11466015
NM_000243.2(MEFV):c.1043G>A (p.Arg348His) rs104895198
NM_000243.2(MEFV):c.1092G>T (p.Pro364=) rs11466022
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.124C>T (p.Arg42Trp) rs61754767
NM_000243.2(MEFV):c.1260+10C>T rs104895137
NM_000243.2(MEFV):c.1261-11T>G rs77086855
NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.2(MEFV):c.1422G>A (p.Glu474=) rs224208
NM_000243.2(MEFV):c.1428A>G (p.Gln476=) rs224207
NM_000243.2(MEFV):c.1467G>A (p.Gln489=) rs61732424
NM_000243.2(MEFV):c.1518C>T (p.Ile506=) rs104895099
NM_000243.2(MEFV):c.1530T>C (p.Asp510=) rs224206
NM_000243.2(MEFV):c.1587+33C>G rs146820856
NM_000243.2(MEFV):c.1760-4G>A rs79662406
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1803T>A (p.Ile601=) rs779572391
NM_000243.2(MEFV):c.195C>T (p.Tyr65=) rs104895077
NM_000243.2(MEFV):c.198C>T (p.Ala66=) rs149380763
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2118G>A (p.Pro706=) rs2234939
NM_000243.2(MEFV):c.2163C>T (p.Phe721=) rs11466047
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.2(MEFV):c.297C>T (p.Asn99=) rs104895175
NM_000243.2(MEFV):c.306T>C (p.Asp102=) rs224225
NM_000243.2(MEFV):c.329T>C (p.Leu110Pro) rs11466018
NM_000243.2(MEFV):c.333G>A (p.Gly111=) rs61732425
NM_000243.2(MEFV):c.372C>T (p.Pro124=) rs104895078
NM_000243.2(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.2(MEFV):c.42G>A (p.Glu14=) rs113314808
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.443A>T (p.Glu148Val) rs104895076
NM_000243.2(MEFV):c.495C>A (p.Ala165=) rs224223
NM_000243.2(MEFV):c.501G>C (p.Glu167Asp) rs104895079
NM_000243.2(MEFV):c.549G>A (p.Pro183=) rs587781035
NM_000243.2(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.2(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.2(MEFV):c.605G>A (p.Arg202Gln) rs224222
NM_000243.2(MEFV):c.657C>T (p.Gly219=) rs104895182
NM_000243.2(MEFV):c.663G>C (p.Pro221=) rs104895162
NM_000243.2(MEFV):c.800C>T (p.Thr267Ile) rs104895081
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.932C>T (p.Ala311Val) rs74346519
NM_000243.2(MEFV):c.942C>T (p.Arg314=) rs224213
NM_000243.2(MEFV):c.97G>T (p.Val33Leu) rs11466016

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