ClinVar Miner

Variants in gene DNAI1 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
248 29 0 9 17 0 3 28

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 1 0
uncertain significance 1 1 0 14 4
likely benign 0 1 14 0 7
benign 0 0 4 7 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile) rs11793196
NM_012144.4(DNAI1):c.1019+7A>G rs200720794
NM_012144.4(DNAI1):c.1104C>T (p.Tyr368=) rs140711767
NM_012144.4(DNAI1):c.1155C>T (p.Gly385=) rs549401132
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter)
NM_012144.4(DNAI1):c.1371C>T (p.Asp457=) rs113249236
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=) rs764446899
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly) rs11999454
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp) rs376252276
NM_012144.4(DNAI1):c.1599C>T (p.Leu533=) rs150785761
NM_012144.4(DNAI1):c.1604C>A (p.Thr535Asn) rs76334696
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099
NM_012144.4(DNAI1):c.1665C>T (p.Val555=)
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val) rs16931549
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=) rs146244319
NM_012144.4(DNAI1):c.1923C>T (p.His641=) rs145218397
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=) rs146434058
NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu) rs560719255
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=) rs750785483
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser) rs11547035
NM_012144.4(DNAI1):c.297A>G (p.Gln99=) rs77344166
NM_012144.4(DNAI1):c.378A>G (p.Glu126=) rs3818577
NM_012144.4(DNAI1):c.389-1G>C rs200488444
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr) rs146501326
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg) rs146203427
NM_012144.4(DNAI1):c.672A>G (p.Thr224=) rs201101182
NM_012144.4(DNAI1):c.81+5del rs200411544
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517

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