ClinVar Miner

Variants in gene CFHR5 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
155 24 0 19 23 0 2 40

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
pathogenic 0 2 0 1
uncertain significance 2 0 18 9
likely benign 0 18 0 19
benign 1 9 19 0

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_030787.4(CFHR5):c.507C>T (p.Asp169=) rs34533956 0.01500
NM_030787.4(CFHR5):c.254-8T>G rs114023763 0.01451
NM_030787.4(CFHR5):c.330A>C (p.Val110=) rs61745675 0.01447
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser) rs12097550 0.01068
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser) rs139017763 0.00815
NM_030787.4(CFHR5):c.1704T>A (p.Cys568Ter) rs143140599 0.00764
NM_030787.4(CFHR5):c.429T>C (p.Thr143=) rs140215003 0.00665
NM_030787.4(CFHR5):c.243G>A (p.Pro81=) rs7532068 0.00444
NM_030787.4(CFHR5):c.1135G>C (p.Val379Leu) rs111327589 0.00395
NM_030787.4(CFHR5):c.254-5C>T rs185709089 0.00378
NM_030787.4(CFHR5):c.732C>T (p.Asn244=) rs41306229 0.00250
NM_030787.4(CFHR5):c.622T>C (p.Cys208Arg) rs41299613 0.00157
NM_030787.4(CFHR5):c.432A>T (p.Lys144Asn) rs181511327 0.00076
NM_030787.4(CFHR5):c.1412G>A (p.Gly471Glu) rs144438200 0.00066
NM_030787.4(CFHR5):c.835T>A (p.Tyr279Asn) rs143240067 0.00048
NM_030787.4(CFHR5):c.232T>C (p.Ser78Pro) rs146025130 0.00046
NM_030787.4(CFHR5):c.508G>A (p.Val170Met) rs201073457 0.00019
NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys) rs201084185 0.00019
NM_030787.4(CFHR5):c.533A>G (p.Asn178Ser) rs200427185 0.00013
NM_030787.4(CFHR5):c.1116C>T (p.Asn372=) rs556270179 0.00009
NM_030787.4(CFHR5):c.1322G>A (p.Arg441His) rs776063846 0.00006
NM_030787.4(CFHR5):c.242C>T (p.Pro81Leu) rs544857720 0.00006
NM_030787.4(CFHR5):c.1641G>A (p.Ala547=) rs74323799 0.00005
NM_030787.4(CFHR5):c.608-6T>C rs373318468 0.00004
NM_030787.4(CFHR5):c.1029G>A (p.Lys343=) rs555221057 0.00002
NM_030787.4(CFHR5):c.1155G>T (p.Arg385Ser) rs141358257 0.00001
NM_030787.4(CFHR5):c.1350G>A (p.Gly450=) rs77159278
NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg) rs141321678
NM_030787.4(CFHR5):c.206G>A (p.Arg69His) rs375843181
NM_030787.4(CFHR5):c.254-2_266dup rs781568341
NM_030787.4(CFHR5):c.384G>T (p.Ser128=) rs147791058
NM_030787.4(CFHR5):c.427A>C (p.Thr143Pro) rs138529008
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs) rs565457964
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_030787.4(CFHR5):c.647A>G (p.Asn216Ser) rs147488267
NM_030787.4(CFHR5):c.678del (p.Glu226fs) rs368209619
NM_030787.4(CFHR5):c.903T>C (p.Tyr301=) rs886045751
NM_030787.4(CFHR5):c.970+2T>G rs550747814
NM_030787.4(CFHR5):c.993C>A (p.Cys331Ter) rs751010317

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