ClinVar Miner

Variants in gene HNF1A with conflicting interpretations

See also:
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 Variants with at least 2 submissions 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 kind of conflict
161 32 0 17 7 1 3 24

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 4 2 1 1 0
likely pathogenic 4 0 0 0 0 0
uncertain significance 2 0 0 7 2 0
likely benign 1 0 7 0 13 1
benign 1 0 2 13 0 1
risk factor 0 0 0 1 1 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000545.6(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.6(HNF1A):c.1310-12C>T rs193922579
NM_000545.6(HNF1A):c.1375C>T (p.Leu459=) rs2259820
NM_000545.6(HNF1A):c.1377G>A (p.Leu459=) rs118028009
NM_000545.6(HNF1A):c.1425G>A (p.Pro475=) rs145589373
NM_000545.6(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196
NM_000545.6(HNF1A):c.1501+7G>A rs2464195
NM_000545.6(HNF1A):c.1502-14T>C rs765596650
NM_000545.6(HNF1A):c.1539C>T (p.Thr513=) rs193922584
NM_000545.6(HNF1A):c.1545G>A (p.Thr515=) rs55834942
NM_000545.6(HNF1A):c.1624-15G>A rs193922585
NM_000545.6(HNF1A):c.1624-19G>A rs193922586
NM_000545.6(HNF1A):c.1720G>A (p.Gly574Ser) rs1169305
NM_000545.6(HNF1A):c.1722C>A (p.Gly574=) rs141304623
NM_000545.6(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242
NM_000545.6(HNF1A):c.1A>G (p.Met1Val) rs193922592
NM_000545.6(HNF1A):c.276C>T (p.Leu92=) rs34056805
NM_000545.6(HNF1A):c.293C>T (p.Ala98Val) rs1800574
NM_000545.6(HNF1A):c.336G>A (p.Pro112=) rs371365341
NM_000545.6(HNF1A):c.51C>G (p.Leu17=) rs1169289
NM_000545.6(HNF1A):c.599G>A (p.Arg200Gln) rs893256143
NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) rs1169288
NM_000545.6(HNF1A):c.827C>A (p.Ala276Asp) rs137853245
NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) rs137853247

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.