ClinVar Miner

Variants in gene combination C1QTNF5, MFRP 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
55 57 1 11 7 0 2 20

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 3 1 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 1 1 0 5 2
likely benign 0 0 5 1 8
benign 0 0 2 8 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NG_012235.1:g.10361G>A rs377666251
NG_012235.1:g.10975G>C rs185696769
NG_012235.1:g.12377C>G rs200181343
NG_012235.1:g.5548G>A rs149376662
NM_015645.4(C1QTNF5):c.-1002G>A rs138370910
NM_015645.4(C1QTNF5):c.-1867G>A rs61736238
NM_015645.4(C1QTNF5):c.-2282A>G rs4639950
NM_015645.4(C1QTNF5):c.-2477C>G rs139436396
NM_015645.4(C1QTNF5):c.489C>G (p.Ser163Arg) rs111033578
NM_031433.3(MFRP):c.1124+11C>G rs199473709
NM_031433.3(MFRP):c.1387+3G>A rs11217241
NM_031433.3(MFRP):c.406G>A (p.Val136Met) rs3814762
NM_031433.3(MFRP):c.491_492insT (p.Asn167Glnfs) rs730882143
NM_031433.3(MFRP):c.492C>T (p.Tyr164=) rs36015759
NM_031433.3(MFRP):c.540T>C (p.His180=) rs2510143
NM_031433.3(MFRP):c.629G>T (p.Gly210Val) rs150902999
NM_031433.3(MFRP):c.642-2A>G rs376898612
NM_031433.3(MFRP):c.773-9C>T rs187321874
NM_031433.3(MFRP):c.955C>T (p.Gln319Ter) rs1555037395
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter) rs786205471

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