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:

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
1278 214 4 55 35 0 15 97

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 4 11 7 0 1
likely pathogenic 11 0 9 0 0
uncertain significance 7 9 0 26 17
likely benign 0 0 26 0 44
benign 1 0 17 44 0

All variants with conflicting interpretations #

Total variants: 97
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.64500
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.07904
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.05928
NM_000186.4(CFH):c.3138C>T (p.Thr1046=) rs61822181 0.05563
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr) rs35343172 0.02118
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01924
NM_000186.4(CFH):c.477T>C (p.Ser159=) rs34940854 0.01586
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01517
NM_000186.4(CFH):c.1652T>C (p.Ile551Thr) rs35453854 0.01471
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01319
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_000186.4(CFH):c.3102T>C (p.Asn1034=) rs34594237 0.00750
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00703
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00395
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00269
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00242
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) rs145975787 0.00130
NM_000186.4(CFH):c.1707C>T (p.Cys569=) rs144976181 0.00129
NM_000186.4(CFH):c.2651C>A (p.Ser884Tyr) rs114743644 0.00114
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00078
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00058
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.285T>C (p.Thr95=) rs148182625 0.00048
NM_000186.4(CFH):c.172T>G (p.Ser58Ala) rs141336681 0.00047
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00043
NM_000186.4(CFH):c.2077G>A (p.Asp693Asn) rs148403790 0.00042
NM_000186.4(CFH):c.245-8C>T rs537160602 0.00038
NM_000186.4(CFH):c.2957-7A>G rs190778135 0.00031
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 0.00018
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg) rs201816520 0.00014
NM_000186.4(CFH):c.2946A>G (p.Pro982=) rs553471643 0.00011
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys) rs147403664 0.00010
NM_000186.4(CFH):c.2821G>T (p.Val941Phe) rs529491401 0.00009
NM_000186.4(CFH):c.558A>T (p.Gly186=) rs752610166 0.00008
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_000186.4(CFH):c.1275G>A (p.Ala425=) rs545227407 0.00006
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_000186.4(CFH):c.907C>T (p.Arg303Trp) rs142937931 0.00006
NM_000186.4(CFH):c.1736T>C (p.Val579Ala) rs201411537 0.00005
NM_000186.4(CFH):c.2596+8G>T rs375176505 0.00004
NM_000186.4(CFH):c.807T>C (p.Asn269=) rs757654697 0.00004
NM_000186.4(CFH):c.770G>A (p.Arg257His) rs140107330 0.00003
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) rs570523689 0.00002
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.791-20T>G rs377743610 0.00002
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.1690T>C (p.Cys564Arg) rs1668856710 0.00001
NM_000186.4(CFH):c.2575C>T (p.Gln859Ter) rs1669420365 0.00001
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.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000186.4(CFH):c.496C>T (p.Arg166Trp) rs746222626 0.00001
NM_000186.4(CFH):c.524G>C (p.Arg175Pro) rs139360826 0.00001
NM_000186.4(CFH):c.879G>A (p.Gln293=) rs769615121 0.00001
NM_000186.3(CFH):c.-124G>T rs527444515
NM_000186.4(CFH):c.1252C>T (p.Pro418Ser) rs369496377
NM_000186.4(CFH):c.158G>A (p.Arg53His) rs976333015
NM_000186.4(CFH):c.1606T>C (p.Cys536Arg) rs121913052
NM_000186.4(CFH):c.1986A>G (p.Arg662=) rs950210342
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000186.4(CFH):c.245-9del rs35507625
NM_000186.4(CFH):c.245-9dup rs35507625
NM_000186.4(CFH):c.2602dup (p.Ile868fs) rs2149113459
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.4(CFH):c.2783-3del rs748791414
NM_000186.4(CFH):c.2783-3dup rs748791414
NM_000186.4(CFH):c.2783-8T>A rs1351891195
NM_000186.4(CFH):c.2871C>A (p.Tyr957Ter)
NM_000186.4(CFH):c.2876G>A (p.Cys959Tyr) rs121913053
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.4(CFH):c.2956+13G>A rs572034879
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000186.4(CFH):c.3326G>A (p.Cys1109Tyr)
NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter) rs1652987369
NM_000186.4(CFH):c.350+15C>T rs190197472
NM_000186.4(CFH):c.350+6T>G rs387906550
NM_000186.4(CFH):c.3546G>C (p.Arg1182Ser) rs1653042358
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe) rs2149118712
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.4(CFH):c.3644G>A (p.Arg1215Gln)
NM_000186.4(CFH):c.380G>T (p.Arg127Leu) rs121913058
NM_000186.4(CFH):c.427+14G>C rs755841584
NM_000186.4(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000186.4(CFH):c.694C>T (p.Arg232Ter) rs755790570
NM_000186.4(CFH):c.7C>G (p.Leu3Val) rs139254423

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