ClinVar Miner

Variants in gene CFH 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
95 55 1 7 21 4 0 31

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 uncertain significance likely benign benign risk factor
pathogenic 1 0 0 0 3
uncertain significance 0 0 9 13 1
likely benign 0 9 0 7 1
benign 0 13 7 0 1
risk factor 3 1 1 1 0

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
NM_000186.3(CFH):c.-124G>T rs527444515
NM_000186.3(CFH):c.1736T>C (p.Val579Ala) rs201411537
NM_000186.3(CFH):c.184G>A (p.Val62Ile) rs800292
NM_000186.3(CFH):c.1949G>T (p.Gly650Val) rs143237092
NM_000186.3(CFH):c.2196G>A (p.Thr732=) rs144325643
NM_000186.3(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.3(CFH):c.2850G>T (p.Gln950His) rs149474608
NM_000186.3(CFH):c.285T>C (p.Thr95=) rs148182625
NM_000186.3(CFH):c.2957-7A>G rs190778135
NM_000186.3(CFH):c.3004G>C (p.Gly1002Arg) rs201816520
NM_000186.3(CFH):c.3133+4C>G rs374729595
NM_000186.3(CFH):c.3178G>C (p.Val1060Leu) rs55771831
NM_000186.3(CFH):c.3207T>C (p.Ser1069=) rs62641697
NM_000186.3(CFH):c.3310+12T>C rs757045842
NM_000186.3(CFH):c.350+9T>C rs201686629
NM_000186.3(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.3(CFH):c.3590T>C (p.Val1197Ala) rs460184
NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys) rs121913059
NM_000186.3(CFH):c.428-14T>C rs184188486
NM_000186.3(CFH):c.770G>A (p.Arg257His) rs140107330
NM_000186.4(CFH):c.1418C>T (p.Ala473Val)
NM_000186.4(CFH):c.16A>G (p.Lys6Glu)
NM_000186.4(CFH):c.172T>G (p.Ser58Ala)
NM_000186.4(CFH):c.2424A>G (p.Ile808Met)
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser)
NM_000186.4(CFH):c.3156C>T (p.Pro1052=)
NM_000186.4(CFH):c.879G>A (p.Gln293=)
NM_000186.4(CFH):c.907C>T (p.Arg303Trp)

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