ClinVar Miner

Variants in gene TGFB2 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
555 42 0 25 11 0 2 34

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 9 1 0 0
likely pathogenic 9 0 1 0 0
uncertain significance 1 1 0 10 4
likely benign 0 0 10 0 16
benign 0 0 4 16 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003238.6(TGFB2):c.643+7A>C rs7531245 0.01418
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=) rs141225367 0.00359
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_003238.6(TGFB2):c.303G>A (p.Lys101=) rs147052890 0.00072
NM_003238.6(TGFB2):c.-5A>T rs200702935 0.00060
NM_003238.6(TGFB2):c.357G>A (p.Pro119=) rs138514914 0.00054
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_003238.6(TGFB2):c.347-14C>G rs371982231 0.00014
NM_003238.6(TGFB2):c.1140C>T (p.Cys380=) rs201129153 0.00006
NM_003238.6(TGFB2):c.644-4C>T rs11466408 0.00006
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=) rs142741166 0.00004
NM_003238.6(TGFB2):c.1087-13T>G rs374394434 0.00002
NM_003238.6(TGFB2):c.37C>A (p.His13Asn) rs763918203 0.00001
NM_003238.6(TGFB2):c.501G>A (p.Glu167=) rs550789732 0.00001
NM_003238.6(TGFB2):c.918G>A (p.Ala306=) rs767936611 0.00001
NM_003238.6(TGFB2):c.274G>T (p.Glu92Ter) rs1656706610
NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_003238.6(TGFB2):c.450_451del (p.Arg150fs)
NM_003238.6(TGFB2):c.458G>A (p.Arg153His) rs1057518684
NM_003238.6(TGFB2):c.510+12TTG[11] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[12] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[13] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[9] rs10482769
NM_003238.6(TGFB2):c.510+9C>T rs1481374757
NM_003238.6(TGFB2):c.821dup (p.Asn274fs) rs863223796
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln) rs1057521150
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys) rs869312903
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003238.6(TGFB2):c.933-1G>A
NM_003238.6(TGFB2):c.933-6del rs11285412
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352

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