ClinVar Miner

Variants in gene PDGFRB with conflicting interpretations

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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
516 42 0 20 19 0 1 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 likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 0 1 0 16 3
likely benign 0 0 16 0 18
benign 0 0 3 18 0

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) rs17110944 0.07088
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) rs74943037 0.02595
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys) rs41287110 0.01976
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558 0.00834
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=) rs2228439 0.00793
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112 0.00287
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947 0.00259
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=) rs41287108 0.00236
NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln) rs148974733 0.00159
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) rs2229560 0.00130
NM_002609.4(PDGFRB):c.714C>T (p.Ile238=) rs41287114 0.00087
NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser) rs199873101 0.00031
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=) rs55830572 0.00019
NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln) rs35731372 0.00010
NM_002609.4(PDGFRB):c.2705C>T (p.Thr902Ile) rs200865355 0.00006
NM_002609.4(PDGFRB):c.164C>T (p.Ser55Leu) rs147952898 0.00003
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn) rs750896639 0.00001
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met) rs138830253 0.00001
NM_002609.4(PDGFRB):c.1000C>T (p.Arg334Trp)
NM_002609.4(PDGFRB):c.1243+4A>T rs573720818
NM_002609.4(PDGFRB):c.1360C>T (p.Leu454Phe)
NM_002609.4(PDGFRB):c.1399G>A (p.Gly467Arg)
NM_002609.4(PDGFRB):c.1438G>A (p.Val480Met)
NM_002609.4(PDGFRB):c.1487G>A (p.Arg496His)
NM_002609.4(PDGFRB):c.1553C>T (p.Thr518Met)
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu) rs202213873
NM_002609.4(PDGFRB):c.1997A>G (p.Asn666Ser) rs2113894766
NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys) rs864309711
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys) rs138008832
NM_002609.4(PDGFRB):c.2129C>T (p.Pro710Leu)
NM_002609.4(PDGFRB):c.2281G>A (p.Val761Ile)
NM_002609.4(PDGFRB):c.2791G>A (p.Asp931Asn)
NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys)
NM_002609.4(PDGFRB):c.3181G>A (p.Asp1061Asn)
NM_002609.4(PDGFRB):c.3275C>T (p.Ser1092Leu)
NM_002609.4(PDGFRB):c.338G>A (p.Arg113Gln)
NM_002609.4(PDGFRB):c.542G>C (p.Gly181Ala)
NM_002609.4(PDGFRB):c.844G>A (p.Glu282Lys)
NM_002609.4(PDGFRB):c.938G>A (p.Ser313Asn)
NM_002609.4(PDGFRB):c.971C>T (p.Thr324Ile)

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