ClinVar Miner

Variants in gene ABRAXAS1 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
199 37 0 9 11 0 1 18

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 1 0 0
uncertain significance 1 0 10 4
likely benign 0 10 0 9
benign 0 4 9 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
NM_139076.3(ABRAXAS1):c.-4T>C rs202166386
NM_139076.3(ABRAXAS1):c.1056T>G (p.Asp352Glu) rs773812911
NM_139076.3(ABRAXAS1):c.125A>G (p.Lys42Arg) rs201948472
NM_139076.3(ABRAXAS1):c.178+9T>C rs367733190
NM_139076.3(ABRAXAS1):c.18G>A (p.Thr6=) rs752871858
NM_139076.3(ABRAXAS1):c.246G>A (p.Glu82=) rs367969368
NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu) rs137876115
NM_139076.3(ABRAXAS1):c.381C>T (p.Asn127=) rs201470211
NM_139076.3(ABRAXAS1):c.422C>T (p.Thr141Ile) rs150207999
NM_139076.3(ABRAXAS1):c.476+5A>C rs753767582
NM_139076.3(ABRAXAS1):c.577C>T (p.Arg193Ter) rs201698934
NM_139076.3(ABRAXAS1):c.63G>A (p.Gln21=) rs745494968
NM_139076.3(ABRAXAS1):c.676T>C (p.Leu226=) rs769383568
NM_139076.3(ABRAXAS1):c.755G>A (p.Arg252Gln) rs114513239
NM_139076.3(ABRAXAS1):c.7G>C (p.Gly3Arg) rs370520589
NM_139076.3(ABRAXAS1):c.826_828del (p.Glu276del) rs748475674
NM_139076.3(ABRAXAS1):c.917T>C (p.Val306Ala) rs138986552
NM_139076.3(ABRAXAS1):c.941A>G (p.Asn314Ser) rs376489465

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