ClinVar Miner

Variants in gene ATP6V1B1 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
175 30 0 6 8 0 0 12

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

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
NM_001692.4(ATP6V1B1):c.1023C>T (p.Ser341=) rs117826071
NM_001692.4(ATP6V1B1):c.1276G>A (p.Val426Met) rs531239712
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=) rs372223196
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=) rs147576439
NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser) rs111306070
NM_001692.4(ATP6V1B1):c.688-7T>C rs193240706
NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr) rs527738649
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001692.4(ATP6V1B1):c.926A>G (p.Glu309Gly) rs201556073
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062

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