ClinVar Miner

Variants in gene HNF4A 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
102 82 1 11 6 0 4 20

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 0 3 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 3 1 1 6 2
likely benign 0 0 6 0 11
benign 0 0 2 11 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000457.4(HNF4A):c.*167T>A rs11574744
NM_000457.4(HNF4A):c.1083C>T (p.Phe361=)
NM_000457.4(HNF4A):c.116-5C>T rs745975
NM_000457.4(HNF4A):c.1203C>T (p.Asn401=) rs61737145
NM_000457.4(HNF4A):c.1204G>A (p.Val402Ile) rs137853337
NM_000457.4(HNF4A):c.1309C>T (p.Pro437Ser) rs150776703
NM_000457.4(HNF4A):c.1387A>G (p.Ile463Val) rs147638455
NM_000457.4(HNF4A):c.150G>A (p.Ala50=) rs41282026
NM_000457.4(HNF4A):c.201C>T (p.Ala67=) rs736823
NM_000457.4(HNF4A):c.290+17dupT rs371937621
NM_000457.4(HNF4A):c.406C>T (p.Arg136Trp) rs137853336
NM_000457.4(HNF4A):c.416C>T (p.Thr139Ile) rs1800961
NM_000457.4(HNF4A):c.459T>C (p.Asn153=) rs113308087
NM_000457.4(HNF4A):c.492+6G>A rs182980547
NM_000457.4(HNF4A):c.505G>A (p.Val169Ile) rs142204928
NM_000457.4(HNF4A):c.735A>G (p.Leu245=) rs139591750
NM_000457.4(HNF4A):c.792G>A (p.Val264=) rs145280017
NM_000457.4(HNF4A):c.810C>T (p.Asp270=) rs6031592
NM_000457.4(HNF4A):c.991C>T (p.Arg331Cys) rs193922479
NM_000457.4(HNF4A):c.998G>A (p.Arg333His) rs1375557127

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