ClinVar Miner

Variants in gene RHO 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
276 27 0 18 3 1 4 23

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 drug response protective other
pathogenic 0 13 2 0 0 0 0 0
likely pathogenic 13 0 1 0 0 0 0 0
uncertain significance 3 2 0 3 2 1 1 1
likely benign 0 0 2 0 5 0 0 0
benign 0 0 1 5 0 0 0 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000539.3(RHO):c.1020G>A (p.Thr340=) rs559747229
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) rs142322202
NM_000539.3(RHO):c.1033G>A (p.Val345Met) rs104893795
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773
NM_000539.3(RHO):c.360C>T (p.Gly120=) rs79765751
NM_000539.3(RHO):c.361+12del rs376995477
NM_000539.3(RHO):c.381C>G (p.Ser127=) rs146311684
NM_000539.3(RHO):c.480C>A (p.Thr160=) rs151063543
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.512C>T (p.Pro171Leu)
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) rs104893776
NM_000539.3(RHO):c.538C>A (p.Pro180Thr) rs1560046837
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) rs1424131846
NM_000539.3(RHO):c.632A>C (p.His211Pro) rs28933993
NM_000539.3(RHO):c.647T>A (p.Met216Lys)
NM_000539.3(RHO):c.745G>T (p.Glu249Ter) rs104893783
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360
NM_000539.3(RHO):c.789CTG[1] (p.Cys264del) rs121918590
NM_000539.3(RHO):c.891C>T (p.Ser297=) rs142285818
Single allele

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