ClinVar Miner

Variants in gene combination LOC126862264, MEFV 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 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
155 56 0 15 23 0 8 36

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 5 5 1 0
likely pathogenic 5 0 6 1 0
uncertain significance 5 6 0 18 9
likely benign 1 1 18 0 10
benign 0 0 9 10 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_000243.3(MEFV):c.1760-30T>A rs1231123 0.39404
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) rs11466047 0.00484
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_000243.3(MEFV):c.1759+8C>T rs77380520 0.00321
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys) rs104895192 0.00066
NM_000243.3(MEFV):c.1827C>G (p.Pro609=) rs104895135 0.00029
NM_000243.3(MEFV):c.1760-28T>A rs104895169 0.00022
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp) rs104895210 0.00021
NM_000243.3(MEFV):c.1770G>A (p.Leu590=) rs139692347 0.00014
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000243.3(MEFV):c.1759+7C>T rs772667365 0.00006
NM_000243.3(MEFV):c.2049G>A (p.Ser683=) rs104895092 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000243.3(MEFV):c.2109C>T (p.Ser703=) rs104895118 0.00004
NM_000243.3(MEFV):c.1758T>C (p.Asn586=) rs202228332 0.00003
NM_000243.3(MEFV):c.1779T>A (p.Ala593=) rs377657099 0.00003
NM_000243.3(MEFV):c.1803T>A (p.Ile601=) rs779572391 0.00003
NM_000243.3(MEFV):c.2123G>A (p.Arg708His) rs200375017 0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met) rs104895201 0.00003
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu) rs976279218 0.00002
NM_000243.3(MEFV):c.2103G>A (p.Ala701=) rs104895095 0.00002
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000243.3(MEFV):c.1899G>A (p.Pro633=) rs776315170 0.00001
NM_000243.3(MEFV):c.2078T>C (p.Met693Thr) rs749052818 0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met) rs104895102 0.00001
NM_000243.3(MEFV):c.1759+11C>T rs370349451
NM_000243.3(MEFV):c.1759+1G>A rs876660996
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs) rs1355225244
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091

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