ClinVar Miner

Variants in gene P3H1 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
249 19 0 8 23 0 0 27

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 0 0 0
uncertain significance 0 0 0 7 16
likely benign 0 0 7 0 6
benign 0 0 16 6 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_001146289.1(P3H1):c.570_571del (p.Gly191fs) rs1553143741
NM_022356.3(P3H1):c.-45C>T rs183564323
NM_022356.3(P3H1):c.1026C>T (p.Ala342=) rs61100157
NM_022356.3(P3H1):c.1045G>A (p.Gly349Arg) rs6700677
NM_022356.3(P3H1):c.1233G>A (p.Arg411=) rs61746653
NM_022356.3(P3H1):c.1284C>T (p.Ile428=) rs61746642
NM_022356.3(P3H1):c.1322A>G (p.Asp441Gly) rs113593896
NM_022356.3(P3H1):c.139G>T (p.Ala47Ser) rs55716016
NM_022356.3(P3H1):c.1428C>T (p.Gly476=) rs141786883
NM_022356.3(P3H1):c.1473+5G>T rs114044880
NM_022356.3(P3H1):c.1504G>C (p.Gly502Arg) rs139259804
NM_022356.3(P3H1):c.1529A>G (p.Asn510Ser) rs149894086
NM_022356.3(P3H1):c.1569+3A>G rs76871760
NM_022356.3(P3H1):c.1647G>A (p.Met549Ile) rs11581921
NM_022356.3(P3H1):c.1720+4G>A rs371232413
NM_022356.3(P3H1):c.1721-4C>T rs200901466
NM_022356.3(P3H1):c.1812C>T (p.Pro604=) rs34809608
NM_022356.3(P3H1):c.1930C>A (p.Gln644Lys) rs3738497
NM_022356.3(P3H1):c.2055+13C>G rs76628300
NM_022356.3(P3H1):c.2055+18G>A rs137853890
NM_022356.3(P3H1):c.2152C>G (p.Pro718Ala) rs533729683
NM_022356.3(P3H1):c.327C>T (p.Phe109=) rs370773974
NM_022356.3(P3H1):c.611C>A (p.Pro204His) rs77208721
NM_022356.3(P3H1):c.693G>A (p.Ala231=) rs149113630
NM_022356.3(P3H1):c.756C>T (p.Tyr252=) rs770943260
NM_022356.3(P3H1):c.978C>T (p.Thr326=) rs74070022
NM_022356.4(P3H1):c.33A>G (p.Thr11=) rs144378478

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.