ClinVar Miner

Variants with conflicting interpretations studied for Primary hyperoxaluria

Coded as:
Minimum review status of the submission for Primary hyperoxaluria: Y axis collection method of the submission for Primary hyperoxaluria:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
66 8 0 14 20 0 0 25

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.

All conditions
Primary hyperoxaluria likely pathogenic uncertain significance likely benign benign
pathogenic 4 0 0 0
uncertain significance 0 0 2 1
likely benign 0 12 0 10
benign 0 5 0 0

Condition to condition summary #

Total conditions: 6
Download table as spreadsheet
Condition 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
Primary hyperoxaluria, type I 0 7 0 3 13 0 0 14
not specified 0 3 0 9 2 0 0 11
not provided 0 4 0 5 0 0 0 5
Primary hyperoxaluria, type II 0 3 0 1 3 0 0 4
Primary hyperoxaluria, type III 0 1 0 0 2 0 0 2
Nephrocalcinosis; Nephrolithiasis 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_000030.3(AGXT):c.*289A>C rs4344931
NM_000030.3(AGXT):c.*41C>A rs4273214
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.358+13C>T rs34995778
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000030.3(AGXT):c.942+14T>G rs886055843
NM_012203.2(GRHPR):c.288-11C>T rs2736664
NM_012203.2(GRHPR):c.493+9C>T rs41303225
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314
NM_012203.2(GRHPR):c.579A>G (p.Ala193=) rs309458
NM_012203.2(GRHPR):c.734+9G>A rs56401536
NM_012203.2(GRHPR):c.862_863TG[2] (p.Val289fs) rs180177321
NM_138413.4(HOGA1):c.396G>A (p.Ala132=) rs41290456
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752

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