ClinVar Miner

Variants in gene F5 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
179 117 0 7 20 2 2 30

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 drug response risk factor
pathogenic 0 1 0 0 1 1 1
likely pathogenic 1 0 1 0 0 0 0
uncertain significance 0 1 0 12 8 0 0
likely benign 0 0 12 0 6 0 0
benign 1 0 8 6 0 1 0
drug response 1 0 0 0 1 0 0
risk factor 1 0 0 0 0 0 0

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_000130.4(F5):c.1034G>A (p.Arg345Gln) rs201078171
NM_000130.4(F5):c.1106C>T (p.Ala369Val) rs200934105
NM_000130.4(F5):c.1242A>G (p.Lys414=) rs6035
NM_000130.4(F5):c.1321C>T (p.Arg441Cys) rs747006175
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000130.4(F5):c.2222A>G (p.Asn741Ser) rs144979314
NM_000130.4(F5):c.2573A>G (p.Lys858Arg) rs4524
NM_000130.4(F5):c.2868T>C (p.Tyr956=) rs149067268
NM_000130.4(F5):c.2906A>G (p.Asn969Ser) rs9332604
NM_000130.4(F5):c.3438C>G (p.His1146Gln) rs6005
NM_000130.4(F5):c.3442T>C (p.Ser1148Pro) rs369276714
NM_000130.4(F5):c.3853C>A (p.Leu1285Ile) rs1046712
NM_000130.4(F5):c.4035A>G (p.Gln1345=) rs886045547
NM_000130.4(F5):c.4095C>T (p.Thr1365=) rs9332607
NM_000130.4(F5):c.4405T>C (p.Ser1469Pro) rs144262027
NM_000130.4(F5):c.5054C>G (p.Thr1685Ser) rs6011
NM_000130.4(F5):c.524A>G (p.His175Arg) rs201510575
NM_000130.4(F5):c.5290A>G (p.Met1764Val) rs6030
NM_000130.4(F5):c.5490G>A (p.Leu1830=) rs149092241
NM_000130.4(F5):c.5788+4A>T rs759428783
NM_000130.4(F5):c.6304C>T (p.Arg2102Cys) rs118203910
NM_000130.4(F5):c.6309G>A (p.Leu2103=) rs35369423
NM_000130.4(F5):c.730+7C>T rs6023
NM_000130.5(F5):c.1601= (p.Arg534=) rs6025
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del) rs575766548
NM_000130.5(F5):c.3845A>G (p.His1282Arg) rs143333036
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala) rs6007
NM_000130.5(F5):c.6193+7T>A rs185294741
NM_000130.5(F5):c.628C>A (p.Gln210Lys)
NM_000130.5(F5):c.6443T>C (p.Met2148Thr) rs9332701

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