ClinVar Miner

Variants in gene HNF1A 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
252 45 0 15 7 1 4 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 1 2 1 0 0
likely pathogenic 1 0 2 0 0 0
uncertain significance 2 2 0 6 2 0
likely benign 1 0 6 0 14 1
benign 0 0 2 14 0 1
risk factor 0 0 0 1 1 0

All variants with conflicting interpretations #

Total variants: 24
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NM_000545.6(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596
NM_000545.6(HNF1A):c.1107+9C>G rs17847497
NM_000545.6(HNF1A):c.1165T>G (p.Leu389Val) rs115080759
NM_000545.6(HNF1A):c.1310-12C>T rs193922579
NM_000545.6(HNF1A):c.1323G>A (p.Thr441=) rs138996307
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.1424C>T (p.Pro475Leu) rs193922580
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+6C>T rs374306837
NM_000545.6(HNF1A):c.1501+7G>A rs2464195
NM_000545.6(HNF1A):c.1502-14T>C rs765596650
NM_000545.6(HNF1A):c.1545G>A (p.Thr515=) rs55834942
NM_000545.6(HNF1A):c.1592G>C (p.Ser531Thr) rs137853246
NM_000545.6(HNF1A):c.1624-19G>A rs193922586
NM_000545.6(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587
NM_000545.6(HNF1A):c.29C>T (p.Thr10Met) rs774637975
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.92G>A (p.Gly31Asp) rs137853247
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242

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