ClinVar Miner

Variants in gene CACNB4 with conflicting interpretations

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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
259 9 0 14 9 0 1 22

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 uncertain significance likely benign benign
pathogenic 0 0 0 1
uncertain significance 0 0 5 5
likely benign 0 5 0 14
benign 1 5 14 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=) rs1805028 0.05818
NM_000726.5(CACNB4):c.762T>A (p.Ile254=) rs61736804 0.05586
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_000726.5(CACNB4):c.*624A>T rs755272601 0.00332
NM_000726.5(CACNB4):c.599-15G>A rs41270209 0.00314
NM_000726.5(CACNB4):c.*1942T>C rs139629003 0.00300
NM_000726.5(CACNB4):c.*5022A>G rs548177540 0.00298
NM_000726.5(CACNB4):c.655A>G (p.Met219Val) rs201870832 0.00239
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00148
NM_000726.5(CACNB4):c.*2188T>G rs548234328 0.00122
NM_000726.5(CACNB4):c.*1814G>A rs181447432 0.00103
NM_000726.5(CACNB4):c.*737C>T rs558590558 0.00096
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_000726.5(CACNB4):c.64-238T>G rs369342902 0.00042
NM_000726.5(CACNB4):c.*4T>C rs556761275 0.00019
NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys) rs762394421 0.00013
NM_000726.5(CACNB4):c.1031G>A (p.Arg344Gln) rs776608168 0.00009
NM_000726.5(CACNB4):c.771G>A (p.Thr257=) rs2293219 0.00008
NM_000726.5(CACNB4):c.1437G>A (p.Gln479=) rs794727118 0.00002
NM_000726.5(CACNB4):c.288C>T (p.Ala96=) rs558998873 0.00001
NM_000726.5(CACNB4):c.1191G>A (p.Ala397=) rs369276166
NM_000726.5(CACNB4):c.222A>T (p.Arg74=) rs553682728

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