ClinVar Miner

Variants in gene LOXHD1 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 Variants with at least 2 submissions 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 kind of conflict
256 50 0 30 43 0 1 65

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 4 1 0 0
likely pathogenic 4 0 1 0 0
uncertain significance 1 1 0 29 22
likely benign 0 0 29 0 26
benign 0 0 22 26 0

All variants with conflicting interpretations #

Total variants: 65
Download table as spreadsheet
HGVS dbSNP
NM_144612.6(LOXHD1):c.1028G>A (p.Arg343His) rs183531840
NM_144612.6(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175
NM_144612.6(LOXHD1):c.1431+10G>T rs57330753
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_144612.6(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227
NM_144612.6(LOXHD1):c.1708G>A (p.Asp570Asn) rs140437150
NM_144612.6(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621
NM_144612.6(LOXHD1):c.177G>A (p.Thr59=) rs116413527
NM_144612.6(LOXHD1):c.1815C>T (p.Asp605=) rs201388780
NM_144612.6(LOXHD1):c.1843C>A (p.Arg615=) rs112463030
NM_144612.6(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386
NM_144612.6(LOXHD1):c.1887C>T (p.Ser629=) rs189550119
NM_144612.6(LOXHD1):c.1944C>T (p.Ser648=) rs369039902
NM_144612.6(LOXHD1):c.2027A>G (p.Asp676Gly) rs16978578
NM_144612.6(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744
NM_144612.6(LOXHD1):c.2100G>A (p.Thr700=) rs367826075
NM_144612.6(LOXHD1):c.2175C>T (p.Asn725=) rs2086005
NM_144612.6(LOXHD1):c.2264G>T (p.Gly755Val) rs188517529
NM_144612.6(LOXHD1):c.2370C>T (p.Asp790=) rs34723936
NM_144612.6(LOXHD1):c.2473G>A (p.Val825Met) rs36086089
NM_144612.6(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157
NM_144612.6(LOXHD1):c.274G>A (p.Val92Ile) rs115275492
NM_144612.6(LOXHD1):c.2825_2827delAGA (p.Lys942del) rs142960762
NM_144612.6(LOXHD1):c.3024C>T (p.Val1008=) rs370616818
NM_144612.6(LOXHD1):c.3061+8G>T rs764128579
NM_144612.6(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614
NM_144612.6(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674
NM_144612.6(LOXHD1):c.3426G>A (p.Val1142=) rs200068167
NM_144612.6(LOXHD1):c.3463A>G (p.Arg1155Gly) rs1893566
NM_144612.6(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927
NM_144612.6(LOXHD1):c.3999C>T (p.Cys1333=) rs117297079
NM_144612.6(LOXHD1):c.4031G>T (p.Cys1344Phe) rs368870055
NM_144612.6(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337
NM_144612.6(LOXHD1):c.4148C>T (p.Thr1383Met) rs7244681
NM_144612.6(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496
NM_144612.6(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144612.6(LOXHD1):c.4523G>A (p.Arg1508Lys) rs199518750
NM_144612.6(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197
NM_144612.6(LOXHD1):c.457C>T (p.Arg153Cys) rs112618498
NM_144612.6(LOXHD1):c.4714C>T rs75949023
NM_144612.6(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576
NM_144612.6(LOXHD1):c.4824C>G (p.Val1608=) rs114557260
NM_144612.6(LOXHD1):c.4868A>G (p.Glu1623Gly) rs12606417
NM_144612.6(LOXHD1):c.5050G>A (p.Ala1684Thr) rs376122149
NM_144612.6(LOXHD1):c.5127C>T (p.Gly1709=) rs373924055
NM_144612.6(LOXHD1):c.5213+13G>A rs59128481
NM_144612.6(LOXHD1):c.5214-3C>T rs528236655
NM_144612.6(LOXHD1):c.5398C>T (p.Arg1800Trp) rs201994383
NM_144612.6(LOXHD1):c.5503C>T (p.Leu1835=) rs202043044
NM_144612.6(LOXHD1):c.5506+12G>A rs200518261
NM_144612.6(LOXHD1):c.5616C>A (p.Asn1872Lys) rs61733519
NM_144612.6(LOXHD1):c.5667G>A (p.Lys1889=) rs201366522
NM_144612.6(LOXHD1):c.5864-15C>T rs397517864
NM_144612.6(LOXHD1):c.5913C>T (p.Asn1971=) rs146200756
NM_144612.6(LOXHD1):c.5962A>G (p.Met1988Val) rs141749060
NM_144612.6(LOXHD1):c.5997-11delG rs143514947
NM_144612.6(LOXHD1):c.6057T>C (p.Cys2019=) rs199645176
NM_144612.6(LOXHD1):c.6107C>T (p.Ala2036Val) rs1377016
NM_144612.6(LOXHD1):c.611-15T>C rs146912450
NM_144612.6(LOXHD1):c.6147C>T (p.Tyr2049=) rs374858340
NM_144612.6(LOXHD1):c.6276C>G (p.Val2092=) rs141737883
NM_144612.6(LOXHD1):c.6413G>A (p.Arg2138Gln) rs148468627
NM_144612.6(LOXHD1):c.6555C>T (p.Ala2185=) rs189873733
NM_144612.6(LOXHD1):c.710A>G (p.Asn237Ser) rs539278802

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