ClinVar Miner

Variants with conflicting interpretations studied for CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II

Coded as:
Minimum review status of the submission for CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II: Collection method of the submission for CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
37 48 0 30 40 1 1 69

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.

All conditions
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II pathogenic uncertain significance likely benign benign risk factor
uncertain significance 1 0 21 18 1
likely benign 0 4 0 15 0
benign 0 3 15 0 0

Condition to condition summary #

Total conditions: 5
Download table as spreadsheet
Condition 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
not provided 0 49 0 20 26 0 1 46
Hemolytic uremic syndrome, atypical, susceptibility to, 1 0 53 0 9 19 1 0 29
not specified 0 13 0 6 5 0 0 11
Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 0 10 0 4 0 0 1 5
CFH-related condition 0 4 0 1 3 0 0 4

All variants with conflicting interpretations #

Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.63625
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_000186.4(CFH):c.477T>C (p.Ser159=) rs34940854 0.01586
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser) rs12097550 0.01068
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
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_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00426
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_030787.4(CFHR5):c.1135G>C (p.Val379Leu) rs111327589 0.00395
NM_030787.4(CFHR5):c.254-5C>T rs185709089 0.00378
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_030787.4(CFHR5):c.732C>T (p.Asn244=) rs41306229 0.00250
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_030787.4(CFHR5):c.622T>C (p.Cys208Arg) rs41299613 0.00157
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) rs145975787 0.00130
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
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_000186.4(CFH):c.245-15T>C rs200079172 0.00052
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) rs55807605 0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00050
NM_000186.4(CFH):c.285T>C (p.Thr95=) rs148182625 0.00049
NM_000186.4(CFH):c.172T>G (p.Ser58Ala) rs141336681 0.00047
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_000186.4(CFH):c.2957-7A>G rs190778135 0.00031
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_000186.4(CFH):c.3133+4C>G rs374729595 0.00025
NM_000186.4(CFH):c.1949G>T (p.Gly650Val) rs143237092 0.00021
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
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_000186.4(CFH):c.3004G>C (p.Gly1002Arg) rs201816520 0.00014
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys) rs147403664 0.00010
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_000186.4(CFH):c.1418C>T (p.Ala473Val) rs371053403 0.00006
NM_000186.4(CFH):c.2196G>A (p.Thr732=) rs144325643 0.00006
NM_000186.4(CFH):c.3310+12T>C rs757045842 0.00006
NM_030787.4(CFHR5):c.1641G>A (p.Ala547=) rs74323799 0.00005
NM_000186.4(CFH):c.1736T>C (p.Val579Ala) rs201411537 0.00004
NM_000186.4(CFH):c.2596+8G>T rs375176505 0.00004
NM_000186.4(CFH):c.907C>T (p.Arg303Trp) rs142937931 0.00004
NM_030787.4(CFHR5):c.608-6T>C rs373318468 0.00004
NM_000186.4(CFH):c.770G>A (p.Arg257His) rs140107330 0.00003
NM_000186.4(CFH):c.16A>G (p.Lys6Glu) rs749875053 0.00002
NM_000186.4(CFH):c.2424A>G (p.Ile808Met) rs752302466 0.00002
NM_000186.4(CFH):c.3156C>T (p.Pro1052=) rs764539113 0.00002
NM_000186.4(CFH):c.2784C>A (p.Gly928=) rs755926856 0.00001
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser) rs149938052 0.00001
NM_000186.4(CFH):c.879G>A (p.Gln293=) rs769615121 0.00001
NM_030787.4(CFHR5):c.1155G>T (p.Arg385Ser) rs141358257 0.00001
NM_000186.3(CFH):c.-124G>T rs527444515
NM_000186.4(CFH):c.2956+13G>A rs572034879
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000186.4(CFH):c.7C>G (p.Leu3Val) rs139254423
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.384G>T (p.Ser128=) rs147791058
NM_030787.4(CFHR5):c.647A>G (p.Asn216Ser) rs147488267
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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