ClinVar Miner

Variants in gene PDX1 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
118 20 0 15 11 2 1 21

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 1 0 0 0
likely pathogenic 1 0 0 0 0 0
uncertain significance 1 0 0 11 8 1
likely benign 0 0 11 0 14 0
benign 0 0 8 14 0 1
risk factor 0 0 1 0 1 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441 0.01287
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_000209.4(PDX1):c.-18C>T rs193922351 0.00540
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358 0.00115
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935 0.00097
NM_000209.4(PDX1):c.165C>A (p.Gly55=) rs530567443 0.00078
NM_000209.4(PDX1):c.6C>T (p.Asn2=) rs146936598 0.00078
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902 0.00038
NM_000209.4(PDX1):c.418G>A (p.Ala140Thr) rs143517122 0.00022
NM_000209.4(PDX1):c.848G>A (p.Arg283Gln) rs754817283 0.00019
NM_000209.4(PDX1):c.164G>A (p.Gly55Asp) rs753249965 0.00014
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) rs137852785 0.00011
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.217dup (p.Leu73fs) rs1445970498
NM_000209.4(PDX1):c.285G>A (p.Pro95=) rs797045885
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.693C>T (p.Ser231=) rs200411304
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) rs192902098

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