ClinVar Miner

Variants in gene FREM1 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
739 87 0 16 17 0 1 33

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 2 0 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 0 1 0 16 2
likely benign 0 0 16 0 14
benign 0 0 2 14 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001379081.2(FREM1):c.3819T>A (p.Asp1273Glu) rs7025814 0.06135
NM_001379081.2(FREM1):c.4963G>A (p.Val1655Met) rs114410606 0.00315
NM_001379081.2(FREM1):c.6528C>T (p.Ser2176=) rs144454947 0.00247
NM_001379081.2(FREM1):c.4711G>A (p.Asp1571Asn) rs115421185 0.00244
NM_001379081.2(FREM1):c.1464C>T (p.Ser488=) rs200064797 0.00155
NM_001379081.2(FREM1):c.795C>A (p.Asp265Glu) rs140222993 0.00128
NM_001379081.2(FREM1):c.4442+3G>A rs181859461 0.00119
NM_001379081.2(FREM1):c.6258C>T (p.Tyr2086=) rs187325866 0.00119
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=) rs200894045 0.00092
NM_001379081.2(FREM1):c.5622G>C (p.Trp1874Cys) rs61745612 0.00087
NM_001379081.2(FREM1):c.3146C>G (p.Ser1049Cys) rs199961802 0.00085
NM_001379081.2(FREM1):c.3359A>T (p.Gln1120Leu) rs143844459 0.00068
NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser) rs76714828 0.00064
NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp) rs200482899 0.00052
NM_001379081.2(FREM1):c.5854A>T (p.Ile1952Leu) rs201002953 0.00031
NM_001379081.2(FREM1):c.4945A>G (p.Ile1649Val) rs199891537 0.00030
NM_001379081.2(FREM1):c.6021C>G (p.Pro2007=) rs200987019 0.00030
NM_001379081.2(FREM1):c.4859T>C (p.Val1620Ala) rs190763692 0.00029
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn) rs200650442 0.00025
NM_001379081.2(FREM1):c.3471+9C>T rs377668876 0.00013
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg) rs281875281 0.00013
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met) rs201617511 0.00011
NM_001379081.2(FREM1):c.571G>A (p.Gly191Arg) rs370556388 0.00009
NM_001379081.2(FREM1):c.1492C>T (p.Arg498Trp) rs200642807 0.00006
NM_001379081.2(FREM1):c.4879G>T (p.Ala1627Ser) rs370198850 0.00006
NM_001379081.2(FREM1):c.3932T>C (p.Ile1311Thr) rs182527895 0.00004
NM_001379081.2(FREM1):c.4801C>A (p.Gln1601Lys) rs550726565 0.00001
NM_001379081.2(FREM1):c.2097_2100del (p.Lys699fs) rs769407804
NM_001379081.2(FREM1):c.3330G>A (p.Arg1110=)
NM_001379081.2(FREM1):c.4563C>A (p.Ala1521=) rs60091943
NM_001379081.2(FREM1):c.459G>T (p.Ala153=)
NM_001379081.2(FREM1):c.6474G>A (p.Gly2158=)

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