ClinVar Miner

Variants in gene HNF1B 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 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
277 39 2 12 7 0 4 23

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 7 1 0 0
likely pathogenic 7 0 4 0 0
uncertain significance 1 4 2 7 1
likely benign 0 0 7 0 5
benign 0 0 1 5 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000458.4(HNF1B):c.-31C>G rs771697321
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr) rs138986885
NM_000458.4(HNF1B):c.1045+12T>C rs141166864
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855
NM_000458.4(HNF1B):c.1561C>T (p.Gln521Ter) rs1057524479
NM_000458.4(HNF1B):c.1654-11_1654-9delinsC rs386134268
NM_000458.4(HNF1B):c.1654-4G>A rs193922485
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly) rs147816724
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter) rs193922486
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys) rs144425830
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) rs140562402
NM_000458.4(HNF1B):c.345-1G>T rs193922488
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer) rs193922489
NM_000458.4(HNF1B):c.494G>A (p.Arg165His) rs121918675
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys) rs202151409
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) rs144249535
NM_000458.4(HNF1B):c.789del (p.Ala263_Leu264insTer) rs1568665590
NM_000458.4(HNF1B):c.884G>A (p.Arg295His) rs886043813
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser) rs193922492
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser) rs193922493

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