ClinVar Miner

Variants in gene FREM2 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 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
437 21 0 7 15 0 0 22

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

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro) rs571694324
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu) rs139804851
NM_207361.6(FREM2):c.177T>C (p.Gly59=) rs370018440
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys) rs41292753
NM_207361.6(FREM2):c.2133G>A (p.Met711Ile) rs115446826
NM_207361.6(FREM2):c.2367G>A (p.Pro789=) rs140101984
NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly) rs146685625
NM_207361.6(FREM2):c.2754C>T (p.Val918=) rs140353326
NM_207361.6(FREM2):c.2823C>T (p.Pro941=) rs150154438
NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup) rs570476408
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921
NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg) rs114595447
NM_207361.6(FREM2):c.5642-9T>C rs148794835
NM_207361.6(FREM2):c.5954dup (p.Met1985fs) rs886043213
NM_207361.6(FREM2):c.6743-9C>T rs749834830
NM_207361.6(FREM2):c.7062G>A (p.Thr2354=) rs41286130
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212
NM_207361.6(FREM2):c.9009C>T (p.Val3003=) rs145657148
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met) rs114400765
NM_207361.6(FREM2):c.9071A>G (p.Asn3024Ser) rs115149211
NM_207361.6(FREM2):c.9113T>C (p.Val3038Ala) rs114688149
NM_207361.6(FREM2):c.9337A>G (p.Thr3113Ala) rs202106776

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