ClinVar Miner

Variants in gene DNAI2 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
651 102 0 21 21 0 2 42

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 0 0 0
likely pathogenic 2 0 2 0 0
uncertain significance 0 2 0 20 1
likely benign 0 0 20 0 19
benign 0 0 1 19 0

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_023036.6(DNAI2):c.725-27C>T rs72848284 0.02780
NM_023036.6(DNAI2):c.1131G>A (p.Pro377=) rs59499600 0.01236
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val) rs35636875 0.01015
NM_023036.6(DNAI2):c.234G>A (p.Glu78=) rs35985071 0.00904
NM_023036.6(DNAI2):c.1431C>G (p.Thr477=) rs144035254 0.00581
NM_023036.6(DNAI2):c.1462C>T (p.Leu488Phe) rs61736879 0.00529
NM_023036.6(DNAI2):c.865-18C>T rs117075898 0.00470
NM_023036.6(DNAI2):c.747C>T (p.Gly249=) rs148488355 0.00458
NM_023036.6(DNAI2):c.468-4G>T rs146462823 0.00321
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser) rs115299472 0.00205
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn) rs117932646 0.00161
NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu) rs147470752 0.00092
NM_023036.6(DNAI2):c.754G>A (p.Val252Met) rs140326154 0.00087
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu) rs151241589 0.00081
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=) rs139935771 0.00066
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val) rs145602856 0.00036
NM_023036.6(DNAI2):c.828G>A (p.Thr276=) rs149918986 0.00029
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=) rs551163932 0.00025
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=) rs139915367 0.00022
NM_023036.6(DNAI2):c.1723-1G>T rs201909971 0.00021
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser) rs201457010 0.00021
NM_023036.6(DNAI2):c.1629G>A (p.Ala543=) rs201925425 0.00019
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=) rs142571722 0.00016
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr) rs146769635 0.00014
NM_023036.6(DNAI2):c.1485A>G (p.Val495=) rs200587166 0.00009
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=) rs142710343 0.00009
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362 0.00008
NM_023036.6(DNAI2):c.855G>A (p.Thr285=) rs144909415 0.00008
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser) rs148073122 0.00007
NM_023036.6(DNAI2):c.396G>A (p.Glu132=) rs777369529 0.00006
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro) rs373836524 0.00004
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=) rs200043910 0.00004
NM_023036.6(DNAI2):c.1494C>T (p.Ser498=) rs761516740 0.00004
NM_023036.6(DNAI2):c.663G>A (p.Thr221=) rs368232107 0.00004
NM_023036.6(DNAI2):c.891G>A (p.Met297Ile) rs750750518 0.00004
NM_023036.6(DNAI2):c.933G>A (p.Lys311=) rs570168701 0.00004
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln) rs775926673 0.00002
NM_023036.6(DNAI2):c.610+1G>A rs758109864 0.00002
NM_023036.6(DNAI2):c.123C>T (p.Phe41=) rs542439989
NM_023036.6(DNAI2):c.1644C>T (p.Ala548=) rs9908476
NM_023036.6(DNAI2):c.685T>G (p.Ser229Ala) rs576683556
NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp) rs897911822

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