ClinVar Miner

Variants in gene C3 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
1050 101 0 21 16 3 0 35

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 risk factor
pathogenic 0 1 0 0 0 0
likely pathogenic 1 0 0 0 0 0
uncertain significance 0 0 0 15 5 2
likely benign 0 0 15 0 20 1
benign 0 0 5 20 0 2
risk factor 0 0 2 1 2 0

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000064.4(C3):c.304C>G (p.Arg102Gly) rs2230199 0.14228
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422 0.01362
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200 0.01155
NM_000064.4(C3):c.4457-5C>T rs344554 0.00979
NM_000064.4(C3):c.1976-19C>T rs11569433 0.00656
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
NM_000064.4(C3):c.3970-8C>T rs11569540 0.00476
NM_000064.4(C3):c.3958C>A (p.Arg1320=) rs141718696 0.00386
NM_000064.4(C3):c.4878T>C (p.Thr1626=) rs1803223 0.00261
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657 0.00237
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr) rs11569541 0.00226
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) rs117793540 0.00198
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434 0.00183
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_000064.4(C3):c.1344C>T (p.Thr448=) rs150934856 0.00086
NM_000064.4(C3):c.4767G>A (p.Lys1589=) rs144589541 0.00083
NM_000064.4(C3):c.3490-10T>G rs372843505 0.00053
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635 0.00026
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231 0.00023
NM_000064.4(C3):c.2050G>A (p.Gly684Ser) rs201872466 0.00020
NM_000064.4(C3):c.1923C>T (p.Asp641=) rs113044084 0.00019
NM_000064.4(C3):c.1623C>T (p.Ser541=) rs202078483 0.00016
NM_000064.4(C3):c.2861G>A (p.Arg954His) rs139864704 0.00012
NM_000064.4(C3):c.2047+7G>A rs770932217 0.00011
NM_000064.4(C3):c.2951-5T>C rs375107570 0.00007
NM_000064.4(C3):c.4803C>T (p.His1601=) rs762332809 0.00004
NM_000064.4(C3):c.4520G>A (p.Arg1507His) rs551187980 0.00003
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn) rs121909585
NM_000064.4(C3):c.4350+6G>C rs369993135
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905

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