ClinVar Miner

Variants in gene HNF1B 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 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
487 52 0 25 30 3 10 60

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 likely risk allele uncertain risk allele
pathogenic 0 10 3 0 0 0 0
likely pathogenic 10 0 8 0 0 0 0
uncertain significance 3 8 0 26 10 2 1
likely benign 0 0 26 0 15 0 0
benign 0 0 10 15 0 0 0
likely risk allele 0 0 2 0 0 0 0
uncertain risk allele 0 0 1 0 0 0 0

All variants with conflicting interpretations #

Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000458.3(HNF1B):c.-178G>A rs148442901 0.00528
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855 0.00325
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489 0.00228
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370 0.00127
NM_000458.4(HNF1B):c.1045+12T>C rs141166864 0.00097
NM_000458.4(HNF1B):c.1207-18T>C rs199849203 0.00026
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val) rs141193981 0.00022
NM_000458.4(HNF1B):c.852C>T (p.His284=) rs149581999 0.00022
NM_000458.4(HNF1B):c.1668C>A (p.Ala556=) rs144354798 0.00019
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479 0.00015
NM_000458.4(HNF1B):c.420C>T (p.Val140=) rs370134885 0.00011
NM_000458.4(HNF1B):c.1534+11G>A rs373875820 0.00009
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) rs751225159 0.00009
NM_000458.4(HNF1B):c.1637T>C (p.Met546Thr) rs551889844 0.00009
NM_000458.4(HNF1B):c.1654-9T>A rs200579660 0.00009
NM_000458.4(HNF1B):c.*22G>A rs200421746 0.00007
NM_000458.4(HNF1B):c.1339+17G>A rs374854968 0.00006
NM_000458.4(HNF1B):c.313G>A (p.Glu105Lys) rs199572129 0.00006
NM_000458.4(HNF1B):c.36C>T (p.Leu12=) rs749370057 0.00006
NM_000458.4(HNF1B):c.1239C>T (p.Val413=) rs201113814 0.00005
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
NM_000458.4(HNF1B):c.1008C>T (p.His336=) rs150268130 0.00004
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=) rs780554506 0.00004
NM_000458.4(HNF1B):c.100C>T (p.Leu34=) rs373201245 0.00003
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly) rs375644184 0.00002
NM_000458.4(HNF1B):c.345-11T>G rs200782591 0.00001
NM_000458.4(HNF1B):c.66C>A (p.Thr22=) rs906719754 0.00001
NM_000458.4(HNF1B):c.983C>T (p.Pro328Leu) rs764132839 0.00001
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
NM_000458.4(HNF1B):c.1207-7C>T rs1215174368
NM_000458.4(HNF1B):c.1338A>G (p.Gln446=) rs776536485
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=) rs761684626
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
NM_000458.4(HNF1B):c.1488C>T (p.Ala496=) rs773569563
NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp) rs2034119580
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000458.4(HNF1B):c.202G>C (p.Gly68Arg) rs767576616
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000458.4(HNF1B):c.345-4C>T rs200590728
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.493C>T (p.Arg165Cys)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.526C>T (p.Gln176Ter)
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln)
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro) rs2147545592
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000458.4(HNF1B):c.913A>G (p.Lys305Glu) rs2147545316
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)

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.