ClinVar Miner

Variants in gene CYP7B1 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 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
158 21 0 4 8 0 2 13

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

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_004820.5(CYP7B1):c.1036T>C (p.Leu346=) rs535728519
NM_004820.5(CYP7B1):c.122+19A>T rs7842714
NM_004820.5(CYP7B1):c.123-19dup rs8192895
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His) rs121908611
NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=) rs201281307
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=) rs114797034
NM_004820.5(CYP7B1):c.260-15dup rs8192896
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) rs200737038
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp) rs754730601
NM_004820.5(CYP7B1):c.522T>C (p.Ser174=) rs371522442
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=) rs571177831
NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser) rs181854355

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