ClinVar Miner

Variants in gene combination CAV3, OXTR 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
209 32 0 30 15 0 3 38

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 2 0 0
likely pathogenic 2 0 2 0 0
uncertain significance 2 2 0 15 7
likely benign 0 0 15 0 28
benign 0 0 7 28 0

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033337.3(CAV3):c.*645A>T rs11476 0.42415
NM_033337.3(CAV3):c.*811C>G rs10882 0.39333
NM_033337.3(CAV3):c.*783A>G rs7629329 0.30735
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_033337.3(CAV3):c.*543T>C rs13093809 0.10412
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_033337.3(CAV3):c.115-45C>T rs80340058 0.02576
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_033337.3(CAV3):c.*276C>T rs77367257 0.01623
NM_033337.3(CAV3):c.*805C>A rs186579720 0.00369
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_033337.3(CAV3):c.*20G>A rs137946394 0.00114
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00049
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) rs140575619 0.00049
NM_033337.3(CAV3):c.417C>T (p.Val139=) rs147250678 0.00043
NM_033337.3(CAV3):c.115-13G>C rs368367319 0.00020
NM_033337.3(CAV3):c.306G>A (p.Ala102=) rs149375325 0.00019
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096 0.00017
NM_033337.3(CAV3):c.168C>T (p.Gly56=) rs116840774 0.00010
NM_033337.3(CAV3):c.444G>A (p.Arg148=) rs376749605 0.00008
NM_033337.3(CAV3):c.204C>A (p.Ser68=) rs116840775 0.00007
NM_033337.3(CAV3):c.244G>A (p.Val82Ile) rs112626848 0.00005
NM_033337.3(CAV3):c.451G>A (p.Val151Ile) rs780870487 0.00005
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267 0.00004
NM_033337.3(CAV3):c.384C>T (p.Phe128=) rs773934743 0.00004
NM_033337.3(CAV3):c.442C>T (p.Arg148Trp) rs730880422 0.00002
NM_033337.3(CAV3):c.117G>C (p.Val39=) rs753959620 0.00001
NM_033337.3(CAV3):c.165C>T (p.Asp55=) rs759446749 0.00001
NM_033337.3(CAV3):c.*813del rs66667169
NM_033337.3(CAV3):c.115-45_115-29del rs116840772
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033337.3(CAV3):c.301T>C (p.Trp101Arg) rs199476337
NM_033337.3(CAV3):c.312G>A (p.Val104=) rs794727305
NM_033337.3(CAV3):c.399C>T (p.Phe133=) rs769859957
NM_033337.3(CAV3):c.402G>A (p.Ala134=) rs559206877
NM_033337.3(CAV3):c.402G>C (p.Ala134=) rs559206877

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